Imperial College London

ProfessorMarjo-RiittaJarvelin

Faculty of MedicineSchool of Public Health

Chair in Lifecourse Epidemiology
 
 
 
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Contact

 

+44 (0)20 7594 3345m.jarvelin

 
 
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Location

 

156Norfolk PlaceSt Mary's Campus

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Summary

 

Publications

Publication Type
Year
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912 results found

Palaniswamy S, Piltonen T, Koiranen M, Mazej D, Järvelin MR, Abass K, Rautio A, Sebert Set al., 2019, The association between blood copper concentration and biomarkers related to cardiovascular disease risk – analysis of 206 individuals in the Northern Finland Birth Cohort 1966, Journal of Trace Elements in Medicine and Biology, Vol: 51, Pages: 12-18, ISSN: 0946-672X

© 2018 Elsevier GmbH Background: Copper is an abundant trace element in humans where alterations in the circulating concentration could inform on chronic disease aetiology. To date, data are lacking to study how copper may associate with cardiovascular disease (CVD) risk factors in young and healthy population. Molecular evidence suggests an important role of copper in liver metabolism, an essential organ in maintaining cardiovascular health and inflammation, therefore supporting copper as an associated biomarker of the risk. Objective: We performed a cross-sectional analysis to examine the possible associations between blood copper levels and risk factors for CVD and pre-inflammatory process. Design: The data has been collected from a sub-sample set of the Northern Finland Birth Cohort 1966 (NFBC1966) at 31 years. Participants: The study included 206 individuals, 116 men and 90 women. To reduce environmental individual variations affecting both copper and the metabolic profile in the study sample, the participants were selected as: i) being born in Finnish Lapland and ii) living in their birth place for the last five years preceding blood sampling. Main outcome measures: Fasting blood copper concentration was measured by inductively coupled plasma mass spectrometer. The CVD risk factors included 6 metabolic clusters (30 cardiovascular and pro-inflammatory factors) assessed by nuclear magnetic resonance. Multivariate linear regression analysis was performed to test the linear association between blood copper and 6 metabolic clusters for CVD risk. Associations were assessed under correction for multiple testing. Results: Copper (Cu) levels were comparable in men and women, with no difference between sexes (p-value <0.60). In multiple regression models, sex adjusted, copper was associated with 9 metabolites from 4 metabolic clusters. After adjustment with BMI, copper was associated with 4 metabolites from 3 metabolic clusters: glutamine, beta-hydroxybutyrate

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Amini M, Vonk JM, Abbasi A, Prins BP, Bruinenberg M, Franke L, Van Der Harst P, Navis G, Koppelman GH, Wolffenbuttel BHR, Boezen HM, Snieder H, Chasman DI, Alizadeh BZet al., 2018, Blood Eosinophil Count and Metabolic, Cardiac and Pulmonary Outcomes: A Mendelian Randomization Study, Twin Research and Human Genetics, Vol: 21, Pages: 89-100, ISSN: 1832-4274

Copyright © The Author(s) 2018. Blood eosinophil count is associated with a variety of common complex outcomes in epidemiological observation. The aim of this study was to explore the causal association between determined blood eosinophil count and 20 common complex outcomes (10 metabolic, 6 cardiac, and 4 pulmonary). Through Mendelian randomization, we investigated genetic evidence for the genetically determined eosinophil in association with each outcomes using individual-level LifeLines cohort data (n = 13,301), where a weighted eosinophil genetic risk score comprising five eosinophil associated variants was created. We further examined the associations of the genetically determined eosinophil with those outcomes using summary statistics obtained from genome-wide association study consortia (6 consortia and 14 outcomes). Blood eosinophil count, by a 1-SD genetically increased, was not statistically associated with common complex outcomes in the LifeLines. Using the summary statistics, we showed that a higher genetically determined eosinophil count had a significant association with lower odds of obesity (odds ratio (OR) 0.81, 95% confidence interval (CI) [0.74, 0.89]) but not with the other traits and diseases. To conclude, an elevated eosinophil count is unlikely to be causally associated to higher risk of metabolic, cardiac, and pulmonary outcomes. Further studies with a stronger genetic risk score for eosinophil count may support these results.

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Asai Y, Eslami A, van Ginkel CD, Akhabir L, Wan M, Ellis G, Ben-Shoshan M, Martino D, Ferreira MA, Allen K, Mazer B, de Groot H, de Jong NW, Gerth van Wijk RN, Dubois AEJ, Chin R, Cheuk S, Hoffman J, Jorgensen E, Witte JS, Melles RB, Hong X, Wang X, Hui J, Musk AW, Hunter M, James AL, Koppelman GH, Sandford AJ, Clarke AE, Daley Det al., 2018, Genome-wide association study and meta-analysis in multiple populations identifies new loci for peanut allergy and establishes C11orf30/EMSY as a genetic risk factor for food allergy, Journal of Allergy and Clinical Immunology, Vol: 141, Pages: 991-1001, ISSN: 0091-6749

© 2017 The Authors Background: Peanut allergy (PA) is a complex disease with both environmental and genetic risk factors. Previously, PA loci were identified in filaggrin (FLG) and HLA in candidate gene studies, and loci in HLA were identified in a genome-wide association study and meta-analysis. Objective: We sought to investigate genetic susceptibility to PA. Methods: Eight hundred fifty cases and 926 hyper-control subjects and more than 7.8 million genotyped and imputed single nucleotide polymorphisms (SNPs) were analyzed in a genome-wide association study to identify susceptibility variants for PA in the Canadian population. A meta-analysis of 2 phenotypes (PA and food allergy) was conducted by using 7 studies from the Canadian, American (n = 2), Australian, German, and Dutch (n = 2) populations. Results: An SNP near integrin α6 (ITGA6) reached genome-wide significance with PA (P = 1.80 × 10−8), whereas SNPs associated with Src kinase–associated phosphoprotein 1 (SKAP1), matrix metallopeptidase 12 (MMP12)/MMP13, catenin α3 (CTNNA3), rho GTPase–activating protein 24 (ARHGAP24), angiopoietin 4 (ANGPT4), chromosome 11 open reading frame (C11orf30/EMSY), and exocyst complex component 4 (EXOC4) reached a threshold suggestive of association (P ≤ 1.49 × 10−6). In the meta-analysis of PA, loci in or near ITGA6, ANGPT4, MMP12/MMP13, C11orf30, and EXOC4 were significant (P ≤ 1.49 × 10−6). When a phenotype of any food allergy was used for meta-analysis, the C11orf30 locus reached genome-wide significance (P = 7.50 × 10−11), whereas SNPs associated with ITGA6, ANGPT4, MMP12/MMP13, and EXOC4 and additional C11orf30 SNPs were suggestive (P ≤ 1.49 × 10−6). Functional annotation indicated that SKAP1 regulates expression of CBX1, which colocalizes with the EMSY protein coded by C11orf30. Conclusion: This study identifies multiple novel loci as risk factors for PA and food allergy an

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Asai Y, Eslami A, van Ginkel CD, Akhabir L, Wan M, Yin D, Ellis G, Ben-Shoshan M, Marenholz I, Martino D, Ferreira MA, Allen K, Mazer B, de Groot H, de Jong NW, Gerth van Wijk R, Dubois AEJ, Grosche S, Ashley S, Rüschendorf F, Kalb B, Beyer K, Nöthen MM, Lee YA, Chin R, Cheuk S, Hoffman J, Jorgensen E, Witte JS, Melles RB, Hong X, Wang X, Hui J, Musk AW, Hunter M, James AL, Koppelman GH, Sandford AJ, Clarke AE, Daley Det al., 2018, A Canadian genome-wide association study and meta-analysis confirm HLA as a risk factor for peanut allergy independent of asthma, Journal of Allergy and Clinical Immunology, Vol: 141, Pages: 1513-1516, ISSN: 0091-6749

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Aslibekyan S, Agha G, Colicino E, Do AN, Lahti J, Ligthart S, Marioni RE, Marzi C, Mendelson MM, Tanaka T, Wielscher M, Absher DM, Ferrucci L, Franco OH, Gieger C, Grallert H, Hernandez D, Huan T, Iurato S, Joehanes R, Just AC, Kunze S, Lin H, Liu C, Meigs JB, van Meurs JBJ, Moore AZ, Peters A, Prokisch H, Raikkonen K, Rathmann W, Roden M, Schramm K, Schwartz JD, Starr JM, Uitterlinden AG, Vokonas P, Waldenberger M, Yao C, Zhi D, Baccarelli AA, Bandinelli S, Deary IJ, Dehghan A, Eriksson J, Herder C, Jarvelin M-R, Levy D, Arnett DKet al., 2018, Association of methylation signals with incident coronary heart disease in an epigenome-wide assessment of circulating tumor necrosis factor alpha, JAMA CARDIOLOGY, Vol: 3, Pages: 463-472, ISSN: 2380-6583

Importance Tumor necrosis factor α (TNF-α) is a proinflammatory cytokine with manifold consequences for mammalian pathophysiology, including cardiovascular disease. A deeper understanding of TNF-α biology may enhance treatment precision.Objective To conduct an epigenome-wide analysis of blood-derived DNA methylation and TNF-α levels and to assess the clinical relevance of findings.Design, Setting, and Participants This meta-analysis assessed epigenome-wide associations in circulating TNF-α concentrations from 5 cohort studies and 1 interventional trial, with replication in 3 additional cohort studies. Follow-up analyses investigated associations of identified methylation loci with gene expression and incident coronary heart disease; this meta-analysis included 11 461 participants who experienced 1895 coronary events.Exposures Circulating TNF-α concentration.Main Outcomes and Measures DNA methylation at approximately 450 000 loci, neighboring DNA sequence variation, gene expression, and incident coronary heart disease.Results The discovery cohort included 4794 participants, and the replication study included 816 participants (overall mean [SD] age, 60.7 [8.5] years). In the discovery stage, circulating TNF-α levels were associated with methylation of 7 cytosine-phosphate-guanine (CpG) sites, 3 of which were located in or near DTX3L-PARP9 at cg00959259 (β [SE] = −0.01 [0.003]; P = 7.36 × 10−8), cg08122652 (β [SE] = −0.008 [0.002]; P = 2.24 × 10−7), and cg22930808(β [SE] = −0.01 [0.002]; P = 6.92 × 10−8); NLRC5 at cg16411857 (β [SE] = −0.01 [0.002]; P = 2.14 × 10−13) and cg07839457 (β [SE] = −0.02 [0.003]; P = 6.31 ×

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Balkhiyarova Z, Kaakinen MA, Draisma HHM, Timonen M, Veijola J, Jarvelin M-R, Nouwen A, Prokopenko Iet al., 2018, Dissecting shared pathophysiology of type 2 diabetes and depressive symptoms using multi-phenotype genome-wide association study, 54th Annual Meeting of the European-Association-for-the-Study-of-Diabetes (EASD), Publisher: SPRINGER, Pages: S128-S128, ISSN: 0012-186X

CONFERENCE PAPER

Beaumont RN, Warrington NM, Cavadino A, Tyrrell J, Nodzenski M, Horikoshi M, Geller F, Myhre R, Richmond RC, Paternoster L, Bradfield JP, Kreiner-Moller E, Huikari V, Metrustry S, Lunetta KL, Painter JN, Hottenga J-J, Allard C, Barton SJ, Espinosa A, Marsh JA, Potter C, Zhang G, Ang W, Berry DJ, Bouchard L, Das S, Hakonarson H, Heikkinen J, Helgeland O, Hocher B, Hofman A, Inskip HM, Jones SE, Kogevinas M, Lind PA, Marullo L, Medland SE, Murray A, Murray JC, Njolstad PR, Nohr EA, Reichetzeder C, Ring SM, Ruth KS, Santa-Marina L, Scholtens DM, Sebert S, Sengpiel V, Tuke MA, Vaudel M, Weedon MN, Willemsen G, Wood AR, Yaghootkar H, Muglia LJ, Bartels M, Relton CL, Pennell CE, Chatzi L, Estivill X, Holloway JW, Boomsma DI, Montgomery GW, Murabito JM, Spector TD, Power C, Jarvelin M-R, Bisgaard H, Grant SFA, Sorensen TIA, Jaddoe VW, Jacobsson B, Melbye M, McCarthy MI, Hattersley AT, Hayes MG, Frayling TM, Hivert M-F, Felix JF, Hypponen E, Lowe WL, Evans DM, Lawlor DA, Feenstra B, Freathy RMet al., 2018, Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics, HUMAN MOLECULAR GENETICS, Vol: 27, Pages: 742-756, ISSN: 0964-6906

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Beckmeyer-Borowko A, Imboden M, Rezwan FI, Wielscher M, Amaral AFS, Jeong A, Schaffner E, Auvinen J, Sebert S, Karhunen V, Bettschart R, Turk A, Pons M, Stolz D, Kronenberg F, Arathimos R, Sharp GC, Relton C, Henderson AJ, Jarvelin M-R, Jarvis D, Holloway JW, Probst-Hensch NMet al., 2018, SERPINA1 methylation and lung function in tobacco-smoke exposed European children and adults: a meta-analysis of ALEC population-based cohorts, RESPIRATORY RESEARCH, Vol: 19, ISSN: 1465-993X

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Bjorkqvist J, Pesonen A-K, Kuula L, Matinolli H-M, Lano A, Sipola-Leppanen M, Tikanmaki M, Wolke D, Jarvelin M-R, Eriksson JG, Andersson S, Vaarasmaki M, Heinonen K, Raikkonen K, Hovi P, Kajantie Eet al., 2018, Premature birth and circadian preference in young adulthood: evidence from two birth cohorts, CHRONOBIOLOGY INTERNATIONAL, Vol: 35, Pages: 555-564, ISSN: 0742-0528

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Demenais F, Margaritte-Jeannin P, Barnes KC, Cookson WOC, Altmueller J, Ang W, Barr RG, Beaty TH, Becker AB, Beilby J, Bisgaard H, Bjornsdottir US, Bleecker E, Bonnelykke K, Boomsma DI, Bouzigon E, Brightling CE, Brossard M, Brusselle GG, Burchard E, Burkart KM, Bush A, Chan-Yeung M, Chung KF, Alves AC, Curtin JA, Custovic A, Daley D, de Jongste JC, Del-Rio-Navarro BE, Donohue KM, Duijts L, Eng C, Eriksson JG, Farrall M, Fedorova Y, Feenstra B, Ferreira MA, Freidin MB, Gajdos Z, Gauderman J, Gehring U, Geller F, Genuneit J, Gharib SA, Gilliland F, Granell R, Graves PE, Gudbjartsson DF, Haahtela T, Heckbert SR, Heederik D, Heinrich J, Heliovaara M, Henderson J, Himes BE, Hirose H, Hirschhorn JN, Hofman A, Holt P, Hottenga J, Hudson TJ, Hui J, Imboden M, Ivanov V, Jaddoe VWV, James A, Janson C, Jarvelin M-R, Jarvis D, Jones G, Jonsdottir I, Jousilahti P, Kabesch M, Kahonen M, Kantor DB, Karunas AS, Khusnutdinova E, Koppelman GH, Kozyrskyj AL, Kreiner E, Kubo M, Kumar R, Kumar A, Kuokkanen M, Lahousse L, Laitinen T, Laprise C, Lathrop M, Lau S, Lee Y-A, Lehtimaki T, Letort S, Levin AM, Li G, Liang L, Loehr LR, London SJ, Loth DW, Manichaikul A, Marenholz I, Martinez FJ, Matheson MC, Mathias RA, Matsumoto K, Mbarek H, McArdle WL, Melbye M, Melen E, Meyers D, Michel S, Mohamdi H, Musk AW, Myers RA, Nieuwenhuis MAE, Noguchi E, O'Connor GT, Ogorodova LM, Palmer CD, Palotie A, Park JE, Pennell CE, Pershagen G, Polonikov A, Postma DS, Probst-Hensch N, Puzyrev VP, Raby BA, Raitakari OT, Ramasamy A, Rich SS, Robertson CF, Romieu I, Salam MT, Salomaa V, Schlunssen V, Scott R, Selivanova PA, Sigsgaard T, Simpson A, Siroux V, Smith LJ, Solodilova M, Standl M, Stefansson K, Strachan DP, Stricker BH, Takahashi A, Thompson PJ, Thorleifsson G, Thorsteinsdottir U, Tiesler CMT, Torgerson DG, Tsunoda T, Uitterlinden AG, van der Valk RJP, Vaysse A, Vedantam S, von Berg A, von Mutius E, Vonk JM, Waage J, Wareham NJ, Weiss ST, White WB, Wickman M, Widen E, Willemsen G, Williams LK, Wouterset al., 2018, Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks, NATURE GENETICS, Vol: 50, Pages: 42-+, ISSN: 1061-4036

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Evangelou E, Warren HR, Mosen-Ansorena D, Mifsu B, Pazoki R, Gao H, Ntritsos G, Dimou N, Cabrer CP, Karaman I, Ng F, Evangelou M, Witkowska K, Tzanis E, Hellwege JN, Giri A, Edwards DRV, Sun Y, Cho K, Gaziano JM, Wilson PWF, Tsao PS, Kovesdy CP, Esko T, Magi R, Milani L, Almgren P, Boutin T, Debette S, Ding J, Giulianini F, Holliday EG, Jackson AU, Li-Gao R, Lin W-Y, Luan J, Mangino M, Oldmeadow C, Prins BP, Qian Y, Sargurupremraj M, Shah N, Surendran P, Theriault S, Verweij N, Willems SM, Zhao J-H, Amouyel P, Connell J, de Mutsert R, Doney ASF, Farrall M, Menni C, Morris AD, Noordam R, Pare G, Poulter NR, Shields DC, Stanton A, Thom S, Abecasis G, Amin N, Arking DE, Ayers KL, Barbieri CM, Batini C, Bis JC, Blake T, Bochud M, Boehnke M, Boerwinkle E, Boomsma D, Bottinger EP, Braund PS, Brumat M, Campbell A, Campbell H, Chakravarti A, Chambers JC, Chauhan G, Ciullo M, Cocca M, Collins F, Cordell HJ, Davies G, de Borst MH, de Geus EJ, Deary IJ, Deelen J, Del Greco FM, Demirkale CY, Doerr M, Ehret GB, Elosua R, Enroth S, Erzurumluoglu AM, Ferreira T, Franberg M, Franco OH, Gandin I, Gasparini P, Giedraitis V, Gieger C, Girotto G, Goel A, Gow AJ, Gudnason V, Guo X, Gyllensten U, Hamsten A, Harris TB, Harris SE, Hartman CA, Havulinna AS, Hicks AA, Hofer E, Hofman A, Hottenga J-J, Huffman JE, Hwang S-J, Ingelsson E, James A, Jansen R, Jarvelin M-R, Joehanes R, Johansson A, Johnson AD, Joshi PK, Jousilahti P, Jukema JW, Jula A, Kahonen M, Kathiresan S, Keavney BD, Khaw K-T, Knekt P, Knight J, Kolcic I, Kooner JS, Koskinen S, Kristiansson K, Kutalik Z, Laan M, Larson M, Launer LJ, Lehne B, Lehtimaki T, Liewald DCM, Lin L, Lind L, Lindgren CM, Liu Y, Loos RJF, Lopez LM, Lu Y, Lyytikainen L-P, Mahajan A, Mamasoula C, Marrugat J, Marten J, Milaneschi Y, Morgan A, Morris AP, Morrison AC, Munson PJ, Nalls MA, Nandakumar P, Nelson CP, Niiranen T, Nolte IM, Nutile T, Oldehinkel AJ, Oostra BA, O'Reilly PF, Org E, Padmanabhan S, Palmas W, Palotie A, Pattie A, Penninx BWJH, Perola Met al., 2018, Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits, NATURE GENETICS, Vol: 50, Pages: 1412-+, ISSN: 1061-4036

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Felix JF, Joubert BR, Baccarelli AA, Sharp GC, Almqvist C, Annesi-Maesano I, Arshad H, Baiz N, Bakermans-Kranenburg MJ, Bakulski KM, Binder EB, Bouchard L, Breton CV, Brunekreef B, Brunst KJ, Burchard EG, Bustamante M, Chatzi L, Munthe-Kaas MC, Corpeleijn E, Czamara D, Dabelea D, Smith GD, De Boever P, Duijts L, Dwyer T, Eng C, Eskenazi B, Everson TM, Falahi F, Fallin MD, Farchi S, Fernandez MF, Gao L, Gaunt TR, Ghantous A, Gillman MW, Gonseth S, Grote V, Gruzieva O, Haberg SE, Herceg Z, Hivert M-F, Holland N, Holloway JW, Hoyo C, Hu D, Huang R-C, Huen K, Jarvelin M-R, Jima DD, Just AC, Karagas MR, Karlsson R, Karmaus W, Kechris KJ, Kere J, Kogevinas M, Koletzko B, Koppelman GH, Kupers LK, Ladd-Acosta C, Lahti J, Lambrechts N, Langie SAS, Lie RT, Liu AH, Magnus MC, Magnus P, Maguire RL, Marsit CJ, McArdle W, Melen E, Melton P, Murphy SK, Nawrot TS, Nistico L, Nohr EA, Nordlund B, Nystad W, Oh SS, Oken E, Page CM, Perron P, Pershagen G, Pizzi C, Plusquin M, Raikkonen K, Reese SE, Reischl E, Richiardi L, Ring S, Roy RP, Rzehak P, Schoeters G, Schwartz DA, Sebert S, Snieder H, Sorensen TIA, Starling AP, Sunyer J, ATaylor J, Tiemeier H, Ullemar V, Vafeiadi M, Van Ijzendoorn MH, Vonk JM, Vriens A, Vrijheid M, Wang P, Wiemels JL, Wilcox AJ, Wright RJ, Xu C-J, Xu Z, Yang IV, Yousefi P, Zhang H, Zhang W, Zhao S, Agha G, Relton CL, Jaddoe VWV, London SJet al., 2018, Cohort Profile: Pregnancy And Childhood Epigenetics (PACE) Consortium, INTERNATIONAL JOURNAL OF EPIDEMIOLOGY, Vol: 47, Pages: 22-+, ISSN: 0300-5771

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Ferreira MAR, Vonk JM, Baurecht H, Marenholz I, Tian C, Hoffman JD, Helmer Q, Tillander A, Ullemar V, Lu Y, Rüschendorf F, Hinds DA, Hübner N, Weidinger S, Magnusson PKE, Jorgenson E, Lee YA, Boomsma DI, Karlsson R, Almqvist C, Koppelman GH, Paternoster Let al., 2018, Eleven loci with new reproducible genetic associations with allergic disease risk, Journal of Allergy and Clinical Immunology, ISSN: 0091-6749

© 2018 American Academy of Allergy, Asthma & Immunology Background: A recent genome-wide association study (GWAS) identified 99 loci that contain genetic risk variants shared between asthma, hay fever, and eczema. Many more risk loci shared between these common allergic diseases remain to be discovered, which could point to new therapeutic opportunities. Objective: We sought to identify novel risk loci shared between asthma, hay fever, and eczema by applying a gene-based test of association to results from a published GWAS that included data from 360,838 subjects. Methods: We used approximate conditional analysis to adjust the results from the published GWAS for the effects of the top risk variants identified in that study. We then analyzed the adjusted GWAS results with the EUGENE gene-based approach, which combines evidence for association with disease risk across regulatory variants identified in different tissues. Novel gene-based associations were followed up in an independent sample of 233,898 subjects from the UK Biobank study. Results: Of the 19,432 genes tested, 30 had a significant gene-based association at a Bonferroni-corrected P value of 2.5 × 10−6. Of these, 20 were also significantly associated (P <.05/30 =.0016) with disease risk in the replication sample, including 19 that were located in 11 loci not reported to contain allergy risk variants in previous GWASs. Among these were 9 genes with a known function that is directly relevant to allergic disease: FOSL2, VPRBP, IPCEF1, PRR5L, NCF4, APOBR, IL27, ATXN2L, and LAT. For 4 genes (eg, ATXN2L), a genetically determined decrease in gene expression was associated with decreased allergy risk, and therefore drugs that inhibit gene expression or function are predicted to ameliorate disease symptoms. The opposite directional effect was observed for 14 genes, including IL27, a cytokine known to suppress TH2 responses. Conclusion: Using a gene-based approach, we identified 11 risk loc

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Gormley P, Kurki MI, Hiekkala ME, Veerapen K, Häppölä P, Mitchell AA, Lal D, Palta P, Surakka I, Kaunisto MA, Hämäläinen E, Vepsäläinen S, Havanka H, Harno H, Ilmavirta M, Nissilä M, Säkö E, Sumelahti M-L, Liukkonen J, Sillanpää M, Metsähonkala L, Koskinen S, Lehtimäki T, Raitakari O, Männikkö M, Ran C, Belin AC, Jousilahti P, Anttila V, Salomaa V, Artto V, Färkkilä M, 23andMe Research Team, International Headache Genetics Consortium IHGC, Runz H, Daly MJ, Neale BM, Ripatti S, Kallela M, Wessman M, Palotie Aet al., 2018, Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families., Neuron, Vol: 98, Pages: 743-753.e4

Complex traits, including migraine, often aggregate in families, but the underlying genetic architecture behind this is not well understood. The aggregation could be explained by rare, penetrant variants that segregate according to Mendelian inheritance or by the sufficient polygenic accumulation of common variants, each with an individually small effect, or a combination of the two hypotheses. In 8,319 individuals across 1,589 migraine families, we calculated migraine polygenic risk scores (PRS) and found a significantly higher common variant burden in familial cases (n = 5,317, OR = 1.76, 95% CI = 1.71-1.81, p = 1.7 × 10-109) compared to population cases from the FINRISK cohort (n = 1,101, OR = 1.32, 95% CI = 1.25-1.38, p = 7.2 × 10-17). The PRS explained 1.6% of the phenotypic variance in the population cases and 3.5% in the familial cases (including 2.9% for migraine without aura, 5.5% for migraine with typical aura, and 8.2% for hemiplegic migraine). The results demonstrate a significant contribution of common polygenic variation to the familial aggregation of migraine.

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Guerra S, Melén E, Sunyer J, Xu CJ, Lavi I, Benet M, Bustamante M, Carsin AE, Dobaño C, Guxens M, Tischer C, Vrijheid M, Kull I, Bergström A, Kumar A, Söderhäll C, Gehring U, Dijkstra DJ, van der Vlies P, Wickman M, Bousquet J, Postma DS, Anto JM, Koppelman GHet al., 2018, Genetic and epigenetic regulation of YKL-40 in childhood, Journal of Allergy and Clinical Immunology, Vol: 141, Pages: 1105-1114, ISSN: 0091-6749

© 2017 American Academy of Allergy, Asthma & Immunology Background: Circulating levels of the chitinase-like protein YKL-40 are influenced by genetic variation in its encoding gene (chitinase 3–like 1 [CHI3L1]) and are increased in patients with several diseases, including asthma. Epigenetic regulation of circulating YKL-40 early in life is unknown. Objective: We sought to determine (1) whether methylation levels at CHI3L1 CpG sites mediate the association of CHI3L1 single nucleotide polymorphisms (SNPs) with YKL-40 levels in the blood and (2) whether these biomarkers (CHI3L1 SNPs, methylation profiles, and YKL-40 levels) are associated with asthma in early childhood. Methods: We used data from up to 2405 participants from the Spanish Infancia y Medio Ambiente; the Swedish Barn/Children, Allergy, Milieu, Stockholm, Epidemiological survey; and the Dutch Prevention and Incidence of Asthma and Mite Allergy birth cohorts. Associations between 68 CHI3L1 SNPs, methylation levels at 14 CHI3L1 CpG sites in whole-blood DNA, and circulating YKL-40 levels at 4 years of age were tested by using correlation analysis, multivariable regression, and mediation analysis. Each of these biomarkers was also tested for association with asthma at 4 years of age by using multivariable logistic regression. Results: YKL-40 levels were significantly associated with 7 SNPs and with methylation at 5 CpG sites. Consistent associations between these 7 SNPs (particularly rs10399931 and rs4950928) and 5 CpG sites were observed. Alleles linked to lower YKL-40 levels were associated with higher methylation levels. Participants with high YKL-40 levels (defined as the highest YKL-40 tertile) had increased odds for asthma compared with subjects with low YKL-40 levels (meta-analyzed adjusted odds ratio, 1.90 [95% CI, 1.08-3.36]). In contrast, neither SNPs nor methylation levels at CpG sites in CHI3L1 were associated with asthma. Conclusions: The effects of CHI3L1 genetic variation on cir

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Huels A, Kluemper C, MacIntyre EA, Brauer M, Melen E, Bauer M, Berdel D, Bergstrom A, Brunekreef B, Chan-Yeung M, Fuertes E, Gehring U, Gref A, Heinrich J, Standl M, Lehmann I, Kerkhof M, Koppelman GH, Kozyrskyj AL, Pershagen G, Carlsten C, Kraemer U, Schikowski Tet al., 2018, Atopic dermatitis: Interaction between genetic variants of GSTP1, TNF, TLR2, and TLR4 and air pollution in early life, PEDIATRIC ALLERGY AND IMMUNOLOGY, Vol: 29, Pages: 596-605, ISSN: 0905-6157

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Imkamp K, Berg M, Vermeulen CJ, Heijink IH, Guryev V, Kerstjens HAM, Koppelman GH, van den Berge M, Faiz Aet al., 2018, Nasal epithelium as a proxy for bronchial epithelium for smoking-induced gene expression and expression Quantitative Trait Loci, Journal of Allergy and Clinical Immunology, Vol: 142, Pages: 314-317.e15, ISSN: 0091-6749

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Jiang X, O'Reilly PF, Aschard H, Hsu Y-H, Richards JB, Dupuis J, Ingelsson E, Karasik D, Pilz S, Berry D, Kestenbaum B, Zheng J, Luan J, Sofianopoulou E, Streeten EA, Albanes D, Lutsey PL, Yao L, Tang W, Econs MJ, Wallaschofski H, Voelzke H, Zhou A, Power C, McCarthy MI, Michos ED, Boerwinkle E, Weinstein SJ, Freedman ND, Huang W-Y, Van Schoor NM, van der Velde N, de Groot LCPGM, Enneman A, Cupples LA, Booth SL, Vasan RS, Liu C-T, Zhou Y, Ripatti S, Ohlsson C, Vandenput L, Lorentzon M, Eriksson JG, Shea MK, Houston DK, Kritchevsky SB, Liu Y, Lohman KK, Ferrucci L, Peacock M, Gieger C, Beekman M, Slagboom E, Deelen J, van Heemst D, Kleber ME, Maerz W, de Boer IH, Wood AC, Rotter JI, Rich SS, Robinson-Cohen C, den Heijer M, Jarvelin M-R, Cavadino A, Joshi PK, Wilson JF, Hayward C, Lind L, Michaelsson K, Trompet S, Zillikens MC, Uitterlinden AG, Rivadeneira F, Broer L, Zgaga L, Campbell H, Theodoratou E, Farrington SM, Timofeeva M, Dunlop MG, Valdes AM, Tikkanen E, Lehtimaki T, Lyytikainen L-P, Kahonen M, Raitakari OT, Mikkila V, Ikram MA, Sattar N, Jukema JW, Wareham NJ, Langenberg C, Forouhi NG, Gundersen TE, Khaw K-T, Butterworth AS, Danesh J, Spector T, Wang TJ, Hypponen E, Kraft P, Kiel DPet al., 2018, Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels, NATURE COMMUNICATIONS, Vol: 9, ISSN: 2041-1723

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Karjula S, Morin-Papunen L, Auvinen J, Franks S, Jarvelin MR, Tapanainen J, Jokelainen J, Miettunen J, Piltonen Tet al., 2018, Long-term health related quality of life (HRQoL), life satisfaction and health status in women with PCOS-a population-based follow-up analysis at ages 31 and 46, 34th Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology (ESHRE), Publisher: OXFORD UNIV PRESS, Pages: 444-445, ISSN: 0268-1161

CONFERENCE PAPER

Kaseva N, Vaarasmaki M, Matinolli H-M, Sipola-Leppanen M, Tikanmaki M, Heinonen K, Lano A, Wolke D, Andersson S, Jarvelin M-R, Raikkonen K, Eriksson JG, Kajantie Eet al., 2018, Pre-pregnancy overweight or obesity and gestational diabetes as predictors of body composition in offspring twenty years later: evidence from two birth cohort studies, INTERNATIONAL JOURNAL OF OBESITY, Vol: 42, Pages: 872-879, ISSN: 0307-0565

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Kroon MAGM, Akkerman-Nijland AM, Rottier BL, Koppelman GH, Akkerman OW, Touw DJet al., 2018, Drugs during pregnancy and breast feeding in women diagnosed with Cystic Fibrosis - An update, Journal of Cystic Fibrosis, Vol: 17, Pages: 17-25, ISSN: 1569-1993

JOURNAL ARTICLE

Laru J, Nedelec R, Ojaniemi M, Jarvelin MR, Tapanainen JS, Franks S, Sebert S, Piltonen TT, Morin-Papunen Let al., 2018, Childhood and adolescence body mass index associates with impaired reproductive function - a prospective, population-based cohort study, 34th Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology (ESHRE), Publisher: OXFORD UNIV PRESS, Pages: 448-449, ISSN: 0268-1161

CONFERENCE PAPER

Lee JJ, Wedow R, Okbay A, Kong E, Maghzian O, Zacher M, Tuan AN-V, Bowers P, Sidorenko J, Linner RK, Fontana MA, Kundu T, Lee C, Li H, Li R, Royer R, Timshel PN, Walters RK, Willoughby EA, Yengo L, Alver M, Bao Y, Clark DW, Day FR, Furlotte NA, Joshi PK, Kemper KE, Kleinman A, Langenberg C, Magi R, Trampush JW, Verma SS, Wu Y, Lam M, Zhao JH, Zheng Z, Boardman JD, Campbell H, Freese J, Harris KM, Hayward C, Herd P, Kumari M, Lencz T, Luan J, Malhotra AK, Metspalu A, Milani L, Ong KK, Perry JRB, Porteous DJ, Ritchie MD, Smart MC, Smith BH, Tung JY, Wareham NJ, Wilson JF, Beauchamp JP, Conley DC, Esko T, Lehrer SF, Magnusson PKE, Oskarsson S, Pers TH, Robinson MR, Thom K, Watson C, Chabris CF, Meyer MN, Laibson DI, Yang J, Johannesson M, Koellinger PD, Turley P, Visscher PM, Benjamin DJ, Cesarini Det al., 2018, Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals, NATURE GENETICS, Vol: 50, Pages: 1112-+, ISSN: 1061-4036

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Liuhanen J, Suvisaari J, Kajantie E, Miettunen J, Sarin A-P, Jarvelin M-R, Lonnqvist J, Veijola J, Paunio Tet al., 2018, Interaction between compound genetic risk for schizophrenia and high birth weight contributes to social anhedonia and schizophrenia in women, PSYCHIATRY RESEARCH, Vol: 259, Pages: 148-153, ISSN: 0165-1781

JOURNAL ARTICLE

Lowry E, Rautio N, Karhunen V, Miettunen J, Ala-Mursula L, Auvinen J, Keinänen-Kiukaanniemi S, Puukka K, Prokopenko I, Herzig K-H, Lewin A, Sebert S, Järvelin M-Ret al., 2018, Understanding the complexity of glycaemic health: systematic bio-psychosocial modelling of fasting glucose in middle-age adults; a DynaHEALTH study., Int J Obes (Lond)

BACKGROUND: The prevention of the risk of type 2 diabetes (T2D) is complicated by multidimensional interplays between biological and psychosocial factors acting at the individual level. To address the challenge we took a systematic approach, to explore the bio-psychosocial predictors of blood glucose in mid-age. METHODS: Based on the 31-year and 46-year follow-ups (5,078 participants, 43% male) of Northern Finland Birth Cohort 1966, we used a systematic strategy to select bio-psychosocial variables at 31 years to enable a data-driven approach. As selection criteria, the variable must be (i) a component of the metabolic syndrome or an indicator of psychosocial health using WHO guidelines, (ii) easily obtainable in general health check-ups and (iii) associated with fasting blood glucose at 46 years (P < 0.10). Exploratory and confirmatory factor analysis were used to derive latent factors, and stepwise linear regression allowed exploration of relationships between factors and fasting glucose. RESULTS: Of all 26 variables originally considered, 19 met the selection criteria and were included in an exploratory factor analysis. Two variables were further excluded due to low loading (<0.3). We derived four latent factors, which we named as socioeconomic, metabolic, psychosocial and blood pressure status. The combination of metabolic and psychosocial factors, adjusted for sex, provided best prediction of fasting glucose at 46 years (explaining 10.7% of variation in glucose; P < 0.001). Regarding different bio-psychosocial pathways and relationships, the importance of psychosocial factors in addition to established metabolic risk factors was highlighted. CONCLUSIONS: The present study supports evidence for the bio-psychosocial nature of adult glycemic health and exemplifies an evidence-based approach to model the bio-psychosocial relationships. The factorial model may help further research and public health practice in focusing also on p

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Macare C, Ducci F, Zhang Y, Ruggeri B, Jia T, Kaakinen M, Kalsi G, Charoen P, Casoni F, Peters J, Bromberg U, Hil M, Buxton J, Blakemore A, Veijola J, Buchel C, Banaschewski T, Bokde ALW, Conrod P, Flor H, Frouin V, Gallinat J, Garavan H, Gowland PA, Heinz A, Itternnann B, Lathrop M, Martinot J-L, Paus T, Desrivieres S, Munafo M, Jarvelin M-R, Schumanna Get al., 2018, A neurobiological pathway to smoking in adolescence: TTC12-ANKK1-DRD2 variants and reward response, EUROPEAN NEUROPSYCHOPHARMACOLOGY, Vol: 28, Pages: 1103-1114, ISSN: 0924-977X

JOURNAL ARTICLE

Matinolli H-M, Mannisto S, Sipola-Leppanen M, Tikanmaki M, Heinonen K, Eriksson JG, Wolke D, Lano A, Jarvelin M-R, Vaarasmaki M, Raikkonen K, Kajantie Eet al., 2018, Food and nutrient intakes in young adults born preterm, PEDIATRIC RESEARCH, Vol: 83, Pages: 589-596, ISSN: 0031-3998

JOURNAL ARTICLE

Metrustry SJ, Karhunen V, Edwards MH, Menni C, Geisendorfer T, Huber A, Reichel C, Dennison EM, Cooper C, Spector T, Jarvelin M-R, Valdes AMet al., 2018, Metabolomic signatures of low birthweight: Pathways to insulin resistance and oxidative stress, PLOS ONE, Vol: 13, ISSN: 1932-6203

JOURNAL ARTICLE

Nedelec R, Jokelainen J, Miettunen J, Ruokonen A, Herzig K-H, Männikkö M, Järvelin M-R, Sebert Set al., 2018, Early determinants of metabolically healthy obesity in young adults: study of the Northern Finland Birth Cohort 1966., Int J Obes (Lond)

BACKGROUND: A body of literature suggests a metabolically healthy phenotype in individuals with obesity. Despite important clinical implications, the early origins of metabolically healthy obesity (MHO) have received little attention. OBJECTIVE: To assess the prevalence of MHO among the Northern Finland Birth Cohort 1966 (NFBC1966) at 31 years of age, examine its determinants in early life taking into account the sex specificity. METHODS: We studied 3205 term-born cohort participants with data available for cardio-metabolic health outcomes at 31 years, and longitudinal height and weight data. After stratifying the population by sex, adult BMI and a strict definition of metabolic health (i.e., no risk factors meaning metabolic health), we obtained six groups. Repeated childhood height and weight measures were used to model early growth and early adiposity phenotypes. We employed marginal means adjusted for mother and child covariates including socio-economic status, birth weight and gestational-age, to compare differences between the groups. RESULTS: The prevalence of adult MHO was 6% in men and 13.5% in women. Differences in adult metabolic status were linked to alterations in BMI and age at adiposity peak in infancy (p < 0.0003 in men and p = 0.027 in women), and BMI and age at adiposity rebound (AR) (p < 0.0001 irrespective of sex). Compared to MHO, metabolically unhealthy obese (MUO) women were five and a half months younger at AR (p = 0.007) with a higher BMI while MUO men were four months older (p = 0.036) with no difference in BMI at AR. CONCLUSION: At the time of AR, MHO women appeared to be older than their MUO counterparts while MHO men were younger. These original results support potential risk factors at the time of adiposity rebound linked to metabolic health in adulthood. These variations by sex warrant independent replication.

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Parra GR, Smith GL, Mason WA, Savolainen J, Chmelka MB, Miettunen J, Jarvelin M-R, Moilanen I, Veijola Jet al., 2018, Profiles of Contextual Risk at Birth and Adolescent Substance Use, JOURNAL OF CHILD AND FAMILY STUDIES, Vol: 27, Pages: 717-724, ISSN: 1062-1024

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