Imperial College London

ProfessorJohnChambers

Faculty of MedicineSchool of Public Health

Professor of Cardiovascular Epidemiology
 
 
 
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Contact

 

+44 (0)7866 365 776john.chambers

 
 
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Location

 

172Medical SchoolSt Mary's Campus

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Summary

 

Publications

Publication Type
Year
to

325 results found

Muilwijk M, Loh M, Mahmood S, Palaniswamy S, Siddiqui S, Silva W, Frost GS, Gage HM, Jarvelin M-R, Rannan-Eliya RP, Ahmad S, Jha S, Kasturiratne A, Katulanda P, Khawaja K, Kooner JS, Wickremasinghe AR, van Valkengoed IGM, Chambers JCet al., 2022, The iHealth-T2D study: a cluster randomised trial for the prevention of type 2 diabetes amongst South Asians with central obesity and prediabetes-a statistical analysis plan, TRIALS, Vol: 23

Journal article

Dixon PH, Levine AP, Cebola I, Chan MMY, Amin AS, Aich A, Mozere M, Maude H, Mitchell AL, Zhang J, NIHR BioResource, Genomics England Research Consortium Collaborators, Chambers J, Syngelaki A, Donnelly J, Cooley S, Geary M, Nicolaides K, Thorsell M, Hague WM, Estiu MC, Marschall H-U, Gale DP, Williamson Cet al., 2022, GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements, Nature Communications, Vol: 13, ISSN: 2041-1723

Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting 0.5–2% of pregnancies. The majority of cases present in the third trimester with pruritus, elevated serum bile acids and abnormal serum liver tests. ICP is associated with an increased risk of adverse outcomes, including spontaneous preterm birth and stillbirth. Whilst rare mutations affecting hepatobiliary transporters contribute to the aetiology of ICP, the role of common genetic variation in ICP has not been systematically characterised to date. Here, we perform genome-wide association studies (GWAS) and meta-analyses for ICP across three studies including 1,138 cases and 153,642 controls. Eleven loci achieve genome-wide significance and have been further investigated and fine-mapped using functional genomics approaches. Our results pinpoint common sequence variation in liver-enriched genes and liver-specific cis-regulatory elements as contributing mechanisms to ICP susceptibility.

Journal article

Leong W-Y, Gupta A, Hasan M, Mahmood S, Siddiqui S, Ahmed S, Goon I, Loh M, Mina T, Lam B, Yew YW, Lee J, Lee ES, Riboli E, Elliott P, Tan GP, Chotirmall S, Wickremasinghe A, Kooner J, Irfan K, Chambers Jet al., 2022, Reference equations for evaluation of spirometry function tests in South Asia, and amongst South Asians living in other countries, European Respiratory Journal, ISSN: 0903-1936

Background:There is little data to accurate interpretation of spirometry data in SouthAsia, a major global region with high reported burden for chronicrespiratory disease.Method:We measured lung function in 7,453 healthy men and women aged over18 years, from Bangladesh, North India, South India, Pakistan and SriLanka, as part of the South Asia Biobank study. We first assessed theaccuracy of existing equations for predicting normal forced vital capacity(FVC), forced expiratory volume in 1s (FEV1), and FEV1/FVC ratio. Wethen used our data to derive (N=5,589) and internally validate(N=1,864) new prediction equations amongst South Asians, with furtherexternal validation amongst 339 healthy South Asians living inSingapore.Results:GLI2012 and NHANESIII consistently overestimated expiratory volumes(best fit GLI-SEA, mean [sd] z-score: FEV1 -1.29 [1.04]; FVC -1.12[1.12]). Age, height and weight were strong predictors of lung functionin our participants (P<0.001), and sex specific reference equations usingthese three variables were highly accurate in both internal validation (z-scores: FEV1 0.03 [0.99]; FVC 0.04 [0.97]; FEV1/FVC -0.03 [0.99]) andexternal validation (z-scores: FEV1 0.31 [0.99]; FVC 0.24 [0.97];FEV1/FVC 0.16 [0.91]). Further adjustment for study regions improvesthe model fit, with highest accuracy for estimation of region specific lungfunction in South Asia.Conclusion:We present improved equations for predicting lung function in SouthAsians. These offer the opportunity to enhance diagnosis andmanagement of acute and chronic lung diseases in this major globalpopulation.

Journal article

Mahajan A, Spracklen CN, Zhang W, Ng MCY, Petty LE, Kitajima H, Yu GZ, Rueger S, Speidel L, Kim YJ, Horikoshi M, Mercader JM, Taliun D, Moon S, Kwak S-H, Robertson NR, Rayner NW, Loh M, Kim B-J, Chiou J, Miguel-Escalada I, Parolo PDB, Lin K, Bragg F, Preuss MH, Takeuchi F, Nano J, Guo X, Lamri A, Nakatochi M, Scott RA, Lee J-J, Huerta-Chagoya A, Graff M, Chai J-F, Parra EJ, Yao J, Bielak LF, Tabara Y, Hai Y, Steinthorsdottir V, Cook JP, Kals M, Grarup N, Schmidt EM, Pan I, Sofer T, Wuttke M, Sarnowski C, Gieger C, Nousome D, Trompet S, Long J, Sun M, Tong L, Chen W-M, Ahmad M, Noordam R, Lim VJY, Tam CHT, Joo YY, Chen C-H, Raffield LM, Lecoeur C, Prins BP, Nicolas A, Yanek LR, Chen G, Jensen RA, Tajuddin S, Kabagambe EK, An P, Xiang AH, Choi HS, Cade BE, Tan J, Flanagan J, Abaitua F, Adair LS, Adeyemo A, Aguilar-Salinas CA, Akiyama M, Anand SS, Bertoni A, Bian Z, Bork-Jensen J, Brandslund I, Brody JA, Brummett CM, Buchanan TA, Canouil M, Chan JCN, Chang L-C, Chee M-L, Chen J, Chen S-H, Chen Y-T, Chen Z, Chuang L-M, Cushman M, Das SK, de Silva HJ, Dedoussis G, Dimitrov L, Doumatey AP, Du S, Duan Q, Eckardt K-U, Emery LS, Evans DS, Evans MK, Fischer K, Floyd JS, Ford I, Fornage M, Franco OH, Frayling TM, Freedman B, Fuchsberger C, Genter P, Gerstein HC, Giedraitis V, Gonzalez-Villalpando C, Gonzalez-Villalpando ME, Goodarzi MO, Gordon-Larsen P, Gorkin D, Gross M, Guo Y, Hackinger S, Han S, Hattersley AT, Herder C, Howard A-G, Hsueh W, Huang M, Huang W, Hung Y-J, Hwang MY, Hwu C-M, Ichihara S, Ikram MA, Ingelsson M, Islam MT, Isono M, Jang H-M, Jasmine F, Jiang G, Jonas JB, Jorgensen ME, Jorgensen T, Kamatani Y, Kandeel FR, Kasturiratne A, Katsuya T, Kaur V, Kawaguchi T, Keaton JM, Kho AN, Khor C-C, Kibriya MG, Kim D-H, Kohara K, Kriebel J, Kronenberg F, Kuusisto J, Lall K, Lange LA, Lee M-S, Lee NR, Leong A, Li L, Li Y, Li-Gao R, Ligthart S, Lindgren CM, Linneberg A, Liu C-T, Liu J, Locke AE, Louie T, Luan J, Luk AO, Luo X, Lv J, Lyssenko V, Mamakou V, Mani KR, Meitinet al., 2022, Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation, NATURE GENETICS, Vol: 54, Pages: 560-+, ISSN: 1061-4036

Journal article

Loh M, Zhang W, Ng HK, Schmid K, Lamri A, Tong L, Ahmad M, Lee J-J, Ng MCY, Petty LE, Spracklen CN, Takeuchi F, Islam MT, Jasmine F, Kasturiratne A, Kibriya M, Mohlke KL, Pare G, Prasad G, Shahriar M, Chee ML, de Silva HJ, Engert JC, Gerstein HC, Mani KR, Sabanayagam C, Vujkovic M, Wickremasinghe AR, Wong TY, Yajnik CS, Yusuf S, Ahsan H, Bharadwaj D, Anand SS, Below JE, Boehnke M, Bowden DW, Chandak GR, Cheng C-Y, Kato N, Mahajan A, Sim X, McCarthy MI, Morris AP, Kooner JS, Saleheen D, Chambers JCet al., 2022, Identification of genetic effects underlying type 2 diabetes in South Asian and European populations (vol 5, 329, 2022), COMMUNICATIONS BIOLOGY, Vol: 5

Journal article

Jarvelin M-R, 2022, DNA methylation signature of chronic low-gradeinflammation and its role in cardio-respiratorydiseases, Nature Communications, Vol: 13, ISSN: 2041-1723

We performed a multi-ethnic Epigenome Wide Association study on 22,774 individuals to describe the DNA methylation signature of chronic low-grade inflammation as measured by C-Reactive protein (CRP). We find 1,511 independent differentially methylated loci associated with CRP. These CpG sites show correlation structures across chromosomes, and are primarily situated in euchromatin, depleted in CpG islands. These genomic loci are predominantly situated in transcription factor binding sites and genomic enhancer regions. Mendelian randomization analysis suggests altered CpG methylation is a consequence of increased blood CRP levels. Mediation analysis reveals obesity and smoking as important underlying driving factors for changed CpG methylation. Finally, we find that an activated CpG signature significantly increases the risk for cardiometabolic diseases and COPD.

Journal article

Loh M, Zhang W, Ng HK, Schmid K, Lamri A, Tong L, Ahmad M, Lee J-J, Ng MCY, Petty LE, Spracklen CN, Takeuchi F, Islam MT, Jasmine F, Kasturiratne A, Kibriya M, Mohlke KL, Pare G, Prasad G, Shahriar M, Chee ML, de Silva HJ, Engert JC, Gerstein HC, Mani KR, Sabanayagam C, Vujkovic M, Wickremasinghe AR, Wong TY, Yajnik CS, Yusuf S, Ahsan H, Bharadwaj D, Anand SS, Below JE, Boehnke M, Bowden DW, Chandak GR, Cheng C-Y, Kato N, Mahajan A, Sim X, McCarthy MI, Morris AP, Kooner JS, Saleheen D, Chambers Jet al., 2022, Identification of genetic effects underlying Type 2 Diabetes in South Asian and European populations, Communications Biology, Vol: 5, ISSN: 2399-3642

South Asians are at high risk of developing type 2 diabetes (T2D). We carried out a genome-wide association meta-analysis with South Asian T2D cases (n=16,677) and controls (n=33,856), followed by combined analyses with Europeans (neff=231,420). We identify 21 novel genetic loci for significant association with T2D (P=4.7x10-8 to 5.2x10-12), to the best of our knowledge at the point of analysis. The loci are enriched for regulatory features, including DNA methylation and gene expression in relevant tissues, and highlight CHMP4B, PDHB, LRIG1 and other genes linked to adiposity and glucose metabolism. A polygenic risk score based on South Asian-derived summary statistics shows ~4-fold higher risk for T2D between the top and bottom quartile. Our results provide further insights into the genetic mechanisms underlying T2D, and highlight the opportunities for discovery from joint analysis of data from across ancestral populations.

Journal article

Ruamviboonsuk P, Tiwari R, Sayres R, Nganthavee V, Hemarat K, Kongprayoon A, Raman R, Levinstein B, Liu Y, Schaekermann M, Lee R, Virmani S, Widner K, Chambers J, Hersch F, Peng L, Webster DRet al., 2022, Real-time diabetic retinopathy screening by deep learning in a multisite national screening programme: a prospective interventional cohort study, LANCET DIGITAL HEALTH, Vol: 4

Journal article

Warren H, Edwards T, Vaez A, Keaton J, Kamali Z, Xie T, Ani A, Evangelou E, Hellwege J, Yengo L, Young W, Traylor M, Giri A, Visscher P, Chasman D, Morris A, Caulfield M, Hwang S-J, Kooner J, Conen D, Attia J, Morrison A, Loos R, Kristiansson K, Schmidt R, Hicks A, Pramstaller P, Nelson C, Samani N, Risch L, Gyllensten U, Melander O, Riese H, Wilson J, Campbell H, Psaty B, Lu Y, Rotter J, Guo X, Rice K, Vollenweider P, Sundstrom J, Langenberg C, Tobin M, Giedraitis V, Luan J, Tuomilehto J, Kutalik Z, Ripatti S, Salomaa V, Girotto G, Trompet S, Jukema JW, Harst PVD, Ridker P, Giulianini F, Vitart V, Goel A, Watkins H, Harris S, Deary I, Most PVD, Oldehinkel A, Keavney B, Hayward C, Campbell A, Boehnke M, Scott L, Boutin T, Mamasoula C, Jarvelin M-R, Peters A, Gieger C, Lakatta E, Cucca F, Hui J, Knekt P, Enroth S, de Borst M, Polasek O, Concas MP, Catamo E, Cocca M, Li-Gao R, Hofer E, Schmidt H, Spedicati B, Waldenberger M, Strachan D, Laan M, Teumer A, Dörr M, Gudnason V, Cook J, Ruggiero D, Kolcic I, Boerwinkle E, Traglia M, Lehtimäki T, Raitakari O, Johnson A, Newton-Cheh C, Brown M, Dominiczak A, Sever P, Poulter N, Chambers J, Elosua R, Siscovick D, Esko T, Metspalu A, Strawbridge R, Laakso M, Hamsten A, Hottenga J-J, de Geus E, Morris A, Palmer C, Nolte I, Milaneschi Y, Marten J, Wright A, Zeggini E, Howson J, O'Donnell C, Spector T, Nalls M, Simonsick E, Liu Y, Duijn CV, Butterworth A, Danesh J, Menni C, Wareham N, Khaw K, Denny J, Levy D, Munroe P, Snieder Het al., 2022, Genome-wide analysis in over 1 million individuals reveals over 2,000 independent genetic signals for blood pressure

<jats:title>Abstract</jats:title> <jats:p>Hypertension is a leading cause of premature death affecting more than a billion individuals worldwide. Here we report on the genetic determinants of blood pressure (BP) traits (systolic, diastolic, and pulse pressure) in the largest single-stage genome-wide analysis to date (N = 1,028,980 European-descent individuals). We identified 2,103 independent genetic signals (P &lt; 5x10<jats:sup>− 8</jats:sup>) for BP traits, including 113 novel loci. These associations explain ~ 40% of common SNP heritability of systolic and diastolic BP. Comparison of top versus bottom deciles of polygenic risk scores (PRS) based on these results reveal clinically meaningful differences in BP (12.9 mm Hg for systolic BP, 95% CI 11.5–14.2 mm Hg, p = 9.08×10<jats:sup>− 73</jats:sup>) and hypertension risk (OR 5.41; 95% CI 4.12 to 7.10; P = 9.71×10<jats:sup>− 33</jats:sup>) in an independent dataset. Compared with the area under the curve (AUC) for hypertension discrimination for a model with sex, age, BMI, and genetic ancestry, adding systolic and diastolic BP PRS increased discrimination from 0.791 (95% CI = 0.781–0.801) to 0.814 (95% CI = 0.805–0.824, ∆AUC = 0.023, P = 2.27x10<jats:sup>− 22</jats:sup>). Our transcriptome-wide association study detected 2,793 BP colocalized associations with genetically-predicted expression of 1,070 genes in five cardiovascular tissues, of which 500 are previously unreported for BP traits. These findings represent an advance in our understanding of hypertension and highlight the role of increasingly large genomic studies for development of more accurate PRS, which may inform precision health research.</jats:p>

Journal article

Fraszczyk E, Spijkerman AMW, Zhang Y, Brandmaier S, Day FR, Zhou L, Wackers P, Dolle MET, Bloks VW, Gao X, Gieger C, Kooner J, Kriebel J, Picavet HSJ, Rathmann W, Schottker B, Loh M, Verschuren WMM, Van Vliet-Ostaptchouk JV, Wareham NJ, Chambers JC, Ong KK, Grallert H, Brenner H, Luijten M, Snieder Het al., 2022, Epigenome-wide association study of incident type 2 diabetes: a meta-analysis of five prospective European cohorts, DIABETOLOGIA, Vol: 65, Pages: 763-776, ISSN: 0012-186X

Journal article

Hawe JS, Wilson R, Schmid KT, Zhou L, Lakshmanan LN, Lehne BC, Kuehnel B, Scott WR, Wielscher M, Yew YW, Baumbach C, Lee DP, Marouli E, Bernard M, Pfeiffer L, Matias-Garcia PR, Autio M, Bourgeois S, Herder C, Karhunen V, Meitinger T, Prokisch H, Rathmann W, Roden M, Sebert S, Shin J, Strauch K, Zhang W, Tan WLW, Hauck SM, Merl-Pham J, Grallert H, Barbosa EG, Illig T, Peters A, Paus T, Pausova Z, Deloukas P, Foo RSY, Jarvelin M-R, Kooner JS, Loh M, Heinig M, Gieger C, Waldenberger M, Chambers JCet al., 2022, Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function, NATURE GENETICS, Vol: 54, Pages: 18-+, ISSN: 1061-4036

Journal article

Seneviratne S, Desloge A, Haregu T, Kwasnicka D, Kasturiratne A, Mandla A, Chambers J, Oldenburg Bet al., 2022, Characteristics and Outcomes of Community Health Worker Training to Improve the Prevention and Control of Cardiometabolic Diseases in Low and Middle-Income Countries: A Systematic Review., Inquiry, Vol: 59

Community health workers (CHWs) play an important role in controlling non-communicable diseases in low- and middle-income countries. The aim of this review was to describe the characteristics and outcomes of CHW training programs that focused on the prevention and control of cardiometabolic diseases in low- and middle-income countries (LMICs). Medline, CINAHL Complete, Academic Search Complete, Directory of Open Access Journal, ScienceDirect, ERIC, Gale Academic, and OneFile). Studies that described the training programs used to train CHWs for prevention and control of cardiovascular diseases and type2 diabetes mellitus in LMICs. Only studies that evaluated the outcomes of training programs in at least one of the 4 levels of Kirkpatrick's training evaluation model were included in the review. CHWs who underwent training focused on the prevention and control of cardiovascular disease and type 2 diabetes mellitus. We summarized the resulting evidence using qualitative synthesis through a narrative review. Training outcomes were assessed in relation to (1) CHW reactions to training, their degree of learning, and their behaviors following training, and (2) changes in biochemical and anthropometric indicators in target populations following the CHW program implementation. PROSPERO (CRD42020162116). Thirty-two studies were included. Methods used to train CHWs included: face-to-face lectures, interactive group activities, and blended teaching with online support. Training focused on identifying people with elevated risk of cardiometabolic diseases and their risk factors as well as supporting people to adopt healthy lifestyles. Many studies that utilized trained CHWs did not publish CHW training methods and evaluations, and therefore could not be included in this study. Training programs resulted in an increase in knowledge and skills among CHWs demonstrating that there are certain activities that can be shifted to CHWs following training.

Journal article

Kasturiratne A, Khawaja KI, Ahmad S, Siddiqui S, Shahzad K, Athauda LK, Jayawardena R, Mahmood S, Muilwijk M, Batool T, Burney S, Glover M, Palaniswamy S, Bamunuarachchi V, Panda M, Madawanarachchi S, Rai B, Sattar I, Silva W, Waghdhare S, Jarvelin M-R, Rannan-Eliya RP, Gage HM, van Valkengoed IGM, Valabhji J, Frost GS, Loh M, Wickremasinghe AR, Kooner JS, Katulanda P, Jha S, Chambers JCet al., 2021, The iHealth-T2D study, prevention of type 2 diabetes amongst South Asians with central obesity and prediabetes: study protocol for a randomised controlled trial, TRIALS, Vol: 22

Journal article

Schlosser P, Tin A, Matias-Garcia PR, Thio CHL, Joehanes R, Liu H, Weihs A, Yu Z, Hoppmann A, Grundner-Culemann F, Min JL, Adeyemo AA, Agyemang C, Arnlov J, Aziz NA, Baccarelli A, Bochud M, Brenner H, Breteler MMB, Carmeli C, Chaker L, Chambers JC, Cole SA, Coresh J, Corre T, Correa A, Cox SR, de Klein N, Delgado GE, Domingo-Relloso A, Eckardt K-U, Ekici AB, Endlich K, Evans KL, Floyd JS, Fornage M, Franke L, Fraszczyk E, Gao X, Gao X, Ghanbari M, Ghasemi S, Gieger C, Greenland P, Grove ML, Harris SE, Hemani G, Henneman P, Herder C, Horvath S, Hou L, Hurme MA, Hwang S-J, Jarvelin M-R, Kardia SLR, Kasela S, Kleber ME, Koenig W, Kooner JS, Kramer H, Kronenberg F, Kuhnel B, Lehtimaki T, Lind L, Liu D, Liu Y, Lloyd-Jones DM, Lohman K, Lorkowski S, Lu AT, Marioni RE, Marz W, McCartney DL, Meeks KAC, Milani L, Mishra PP, Nauck M, Navas-Acien A, Nowak C, Peters A, Prokisch H, Psaty BM, Raitakari OT, Ratliff SM, Reiner AP, Rosas SE, Schottker B, Schwartz J, Sedaghat S, Smith JA, Sotoodehnia N, Stocker HR, Stringhini S, Sundstrom J, Swenson BR, Tellez-Plaza M, van Meurs JBJ, van Vliet-Ostaptchouk JV, Venema A, Verweij N, Walker RM, Wielscher M, Winkelmann J, Wolffenbuttel BHR, Zhao W, Zheng Y, Loh M, Snieder H, Levy D, Waldenberger M, Susztak K, Kottgen A, Teumer Aet al., 2021, Meta-analyses identify DNA methylation associated with kidney function and damage, NATURE COMMUNICATIONS, Vol: 12

Journal article

Graham SE, Clarke SL, Wu K-HH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I, Vedantam S, Winkler TW, Locke AE, Marouli E, Hwang MY, Han S, Narita A, Choudhury A, Bentley AR, Ekoru K, Verma A, Trivedi B, Martin HC, Hunt KA, Hui Q, Klarin D, Zhu X, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Ruotsalainen SE, Havulinna AS, Veturi Y, Feng Q, Rosenthal EA, Lingren T, Pacheco JA, Pendergrass SA, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Hindy G, Rasheed A, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao J-H, Matsuda F, Jang H-M, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Willemsen G, Wood AR, Ji Y, Gao Z, Haworth S, Mitchell RE, Chai JF, Aadahl M, Yao J, Manichaikul A, Warren HR, Ramirez J, Bork-Jensen J, Karhus LL, Goel A, Sabater-Lleal M, Noordam R, Sidore C, Fiorillo E, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Mollehave LT, Thuesen BH, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Lamina C, Forer L, Scholz M, Galesloot TE, Bradfield JP, Daw EW, Zmuda JM, Mitchell JS, Fuchsberger C, Christensen H, Brody JA, Feitosa MF, Wojczynski MK, Preuss M, Mangino M, Christofidou P, Verweij N, Benjamins JW, Engmann J, Kember RL, Slieker RC, Lo KS, Zilhao NR, Phuong L, Kleber ME, Delgado GE, Huo S, Ikeda DD, Iha H, Yang J, Liu J, Leonard HL, Marten J, Schmidt B, Arendt M, Smyth LJ, Canadas-Garre M, Wang C, Nakatochi M, Wong A, Hutri-Kahonen N, Sim X, Xia R, Huerta-Chagoya A, Fernandez-Lopez JC, Lyssenko V, Ahmed M, Jackson AU, Irvin MR, Oldmeadow C, Kim H-N, Ryu S, Timmers PRHJ, Arbeeva L, Dorajoo R, Lange LA, Chai X, Prasad G, Lores-Motta L, Pauper M, Long J, Li X, Theusch E, Takeuchi F, Spracklen CN, Loukola A, Bollepalli S, Warner SC, Wang YX, Wei WB, Nutile T, Ruggiero D, Sung YJ, Hung Y-J, Chen S, Liu F, Yaet al., 2021, The power of genetic diversity in genome-wide association studies of lipids, NATURE, Vol: 600, Pages: 675-+, ISSN: 0028-0836

Journal article

Chen Y, Kassam I, Lau SH, Kooner JS, Wilson R, Peters A, Winkelmann J, Chambers JC, Chow VT, Khor CC, van Dam RM, Teo Y-Y, Loh M, Sim Xet al., 2021, Impact of BMI and waist circumference on epigenome-wide DNA methylation and identification of epigenetic biomarkers in blood: an EWAS in multi-ethnic Asian individuals, CLINICAL EPIGENETICS, Vol: 13, ISSN: 1868-7075

Journal article

Muilwijk M, Loh M, Siddiqui S, Mahmood S, Palaniswamy S, Shahzad K, Athauda LK, Jayawardena R, Batool T, Burney S, Glover M, Bamunuarachchi V, Panda M, Madawanarachchi M, Rai B, Sattar I, Silva W, Waghdhare S, Jarvelin M-R, Rannan-Eliya RP, Wijemunige N, Gage HM, Valabhji J, Frost GS, Wickremasinghe R, Kasturiratne A, Khawaja K, Ahmad S, van Valkengoed IGM, Katulanda P, Jha S, Kooner JS, Chambers JCet al., 2021, Effects of a lifestyle intervention programme after 1 year of follow-up among South Asians at high risk of type 2 diabetes: a cluster randomised controlled trial, BMJ GLOBAL HEALTH, Vol: 6, ISSN: 2059-7908

Journal article

Goyal S, Tanigawa Y, Zhang W, Chai J-F, Almeida M, Sim X, Lerner M, Chainakul J, Ramiu JG, Seraphin C, Apple B, Vaughan A, Muniu J, Peralta J, Lehman DM, Ralhan S, Wander GS, Singh JR, Mehra NK, Sidorov E, Peyton MD, Blackett PR, Curran JE, Tai ES, van Dam R, Cheng C-Y, Duggirala R, Blangero J, Chambers JC, Sabanayagam C, Kooner JS, Rivas MA, Aston CE, Sanghera DKet al., 2021, APOC3 genetic variation, serum triglycerides, and risk of coronary artery disease in Asian Indians, Europeans, and other ethnic groups, LIPIDS IN HEALTH AND DISEASE, Vol: 20

Journal article

Ranjani H, Nitika S, Hariharan R, Charumeena H, Oliver N, Pradeepa R, Chambers JC, Unnikrishnan R, Mohan V, Avari PE, Anjana RMet al., 2021, Systematic review and scientific rating of commercial apps available in India for diabetes prevention, JOURNAL OF DIABETOLOGY, Vol: 12, Pages: 285-+, ISSN: 2543-3288

Journal article

Song P, Gupta A, Goon IY, Hasan M, Mahmood S, Pradeepa R, Siddiqui S, Frost GS, Kusuma D, Miraldo M, Sassi F, Wareham NJ, Ahmed S, Anjana RM, Brage S, Forouhi NG, Jha S, Kasturiratne A, Katulanda P, Khawaja KI, Loh M, Mridha MK, Wickremasinghe AR, Kooner JS, Chambers JCet al., 2021, Data resource profile: Understanding the patterns and determinants of health in South Asians—the South Asia Biobank, International Journal of Epidemiology, Vol: 50, Pages: 717-718e, ISSN: 0300-5771

Journal article

Goodrich JK, Singer-Berk M, Son R, Sveden A, Wood J, England E, Cole JB, Weisburd B, Watts N, Caulkins L, Dornbos P, Koesterer R, Zappala Z, Zhang H, Maloney KA, Dahl A, Aguilar-Salinas CA, Atzmon G, Barajas-Olmos F, Barzilai N, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Centeno-Cruz F, Chambers JC, Chami N, Chan E, Chan J, Cheng C-Y, Cho YS, Contreras-Cubas C, Cordova E, Correa A, DeFronzo RA, Duggirala R, Dupuis J, Eugenia Garay-Sevilla M, Garcia-Ortiz H, Gieger C, Glaser B, Gonzalez-Villalpando C, Elena Gonzalez M, Grarup N, Groop L, Gross M, Haiman C, Han S, Hanis CL, Hansen T, Heard-Costa NL, Henderson BE, Hernandez JMM, Hwang MY, Islas-Andrade S, Jorgensen ME, Kang HM, Kim B-J, Kim YJ, Koistinen HA, Kooner JS, Kuusisto J, Kwak S-H, Laakso M, Lange L, Lee J-Y, Lee J, Lehman DM, Linneberg A, Liu J, Loos RJF, Lyssenko V, Ma RCW, Martinez-Hernandez A, Meigs JB, Meitinger T, Mendoza-Caamal E, Mohlke KL, Morris AD, Morrison AC, Ng MCY, Nilsson PM, O'Donnell CJ, Orozco L, Palmer CNA, Park KS, Post WS, Pedersen O, Preuss M, Psaty BM, Reiner AP, Revilla-Monsalve C, Rich SS, Rotter JI, Saleheen D, Schurmann C, Sim X, Sladek R, Small KS, So WY, Spector TD, Strauch K, Strom TM, Tai ES, Tam CHT, Teo YY, Thameem F, Tomlinson B, Tracy RP, Tuomi T, Tuomilehto J, Tusie-Luna T, van Dam RM, Vasan RS, Wilson JG, Witte DR, Wong T-Y, Burtt NP, Zaitlen N, McCarthy MI, Boehnke M, Pollin TI, Flannick J, Mercader JM, O'Donnell-Luria A, Baxter S, Florez JC, MacArthur DG, Udler MSet al., 2021, Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes, NATURE COMMUNICATIONS, Vol: 12, ISSN: 2041-1723

Journal article

Chen J, Spracklen CN, Marenne G, Varshney A, Corbin LJ, Luan J, Willems SM, Wu Y, Zhang X, Horikoshi M, Boutin TS, Magi R, Waage J, Li-Gao R, Chan KHK, Yao J, Anasanti MD, Chu AY, Claringbould A, Heikkinen J, Hong J, Hottenga J-J, Huo S, Kaakinen MA, Louie T, Maerz W, Moreno-Macias H, Ndungu A, Nelson SC, Nolte IM, North KE, Raulerson CK, Ray D, Rohde R, Rybin D, Schurmann C, Sim X, Southam L, Stewart ID, Wang CA, Wang Y, Wu P, Zhang W, Ahluwalia TS, Appel EVR, Bielak LF, Brody JA, Burtt NP, Cabrera CP, Cade BE, Chai JF, Chai X, Chang L-C, Chen C-H, Chen BH, Chitrala KN, Chiu Y-F, de Haan HG, Delgado GE, Demirkan A, Duan Q, Engmann J, Fatumo SA, Gayan J, Giulianini F, Gong JH, Gustafsson S, Hai Y, Hartwig FP, He J, Heianza Y, Huang T, Huerta-Chagoya A, Hwang MY, Jensen RA, Kawaguchi T, Kentistou KA, Kim YJ, Kleber ME, Kooner IK, Lai S, Lange LA, Langefeld CD, Lauzon M, Li M, Ligthart S, Liu J, Loh M, Long J, Lyssenko V, Mangino M, Marzi C, Montasser ME, Nag A, Nakatochi M, Noce D, Noordam R, Pistis G, Preuss M, Raffield L, Rasmussen-Torvik LJ, Rich SS, Robertson NR, Rueedi R, Ryan K, Sanna S, Saxena R, Schraut KE, Sennblad B, Setoh K, Smith AV, Sparso T, Strawbridge RJ, Takeuchi F, Tan J, Trompet S, van den Akker E, van der Most PJ, Verweij N, Vogel M, Wang H, Wang C, Wang N, Warren HR, Wen W, Wilsgaard T, Wong A, Wood AR, Xie T, Zafarmand MH, Zhao J-H, Zhao W, Amin N, Arzumanyan Z, Astrup A, Bakker SJL, Baldassarre D, Beekman M, Bergman RN, Bertoni A, Blueher M, Bonnycastle LL, Bornstein SR, Bowden DW, Cai Q, Campbell A, Campbell H, Chang YC, de Geus EJC, Dehghan A, Du S, Eiriksdottir G, Farmaki AE, Franberg M, Fuchsberger C, Gao Y, Gjesing AP, Goel A, Han S, Hartman CA, Herder C, Hicks AA, Hsieh C-H, Hsueh WA, Ichihara S, Igase M, Ikram MA, Johnson WC, Jorgensen ME, Joshi PK, Kalyani RR, Kandeel FR, Katsuya T, Khor CC, Kiess W, Kolcic I, Kuulasmaa T, Kuusisto J, Lall K, Lam K, Lawlor DA, Lee NR, Lemaitre RN, Li H, Lin S-Y, Lindstrom J, Linneberg A, Liu J, Lorenzoet al., 2021, The trans-ancestral genomic architecture of glycemic traits, Nature Genetics, Vol: 53, Pages: 840-860, ISSN: 1061-4036

Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic health. To date, most genetic studies of glycemic traits have focused on individuals of European ancestry. Here we aggregated genome-wide association studies comprising up to 281,416 individuals without diabetes (30% non-European ancestry) for whom fasting glucose, 2-h glucose after an oral glucose challenge, glycated hemoglobin and fasting insulin data were available. Trans-ancestry and single-ancestry meta-analyses identified 242 loci (99 novel; P < 5 × 10−8), 80% of which had no significant evidence of between-ancestry heterogeneity. Analyses restricted to individuals of European ancestry with equivalent sample size would have led to 24 fewer new loci. Compared with single-ancestry analyses, equivalent-sized trans-ancestry fine-mapping reduced the number of estimated variants in 99% credible sets by a median of 37.5%. Genomic-feature, gene-expression and gene-set analyses revealed distinct biological signatures for each trait, highlighting different underlying biological pathways. Our results increase our understanding of diabetes pathophysiology by using trans-ancestry studies for improved power and resolution.

Journal article

Surendran P, Feofanova EV, Lahrouchi N, Ntalla I, Karthikeyan S, Cook J, Chen L, Mifsud B, Yao C, Kraja AT, Cartwright JH, Hellwege JN, Giri A, Tragante V, Thorleifsson G, Liu DJ, Prins BP, Stewart ID, Cabrera CP, Eales JM, Akbarov A, Auer PL, Bielak LF, Bis JC, Braithwaite VS, Brody JA, Daw EW, Warren HR, Drenos F, Nielsen SF, Faul JD, Fauman EB, Fava C, Ferreira T, Foley CN, Franceschini N, Gao H, Giannakopoulou O, Giulianini F, Gudbjartsson DF, Guo X, Harris SE, Havulinna AS, Helgadottir A, Huffman JE, Hwang S-J, Kanoni S, Kontto J, Larson MG, Li-Gao R, Lindstrom J, Lotta LA, Lu Y, Luan J, Mahajan A, Malerba G, Masca NGD, Mei H, Menni C, Mook-Kanamori DO, Mosen-Ansorena D, Muller-Nurasyid M, Pare G, Paul DS, Perola M, Poveda A, Rauramaa R, Richard M, Richardson TG, Sepulveda N, Sim X, Smith AV, Smith JA, Staley JR, Stanakova A, Sulem P, Theriault S, Thorsteinsdottir U, Trompet S, Varga TV, Velez Edwards DR, Veronesi G, Weiss S, Willems SM, Yao J, Young R, Yu B, Zhang W, Zhao J-H, Zhao W, Zhao W, Evangelou E, Aeschbacher S, Asllanaj E, Blankenberg S, Bonnycastle LL, Bork-Jensen J, Brandslund I, Braund PS, Burgess S, Cho K, Christensen C, Connell J, de Mutsert R, Dominiczak AF, Dorr M, Eiriksdottir G, Farmaki A-E, Gaziano JM, Grarup N, Grove ML, Hallmans G, Hansen T, Have CT, Heiss G, Jorgensen ME, Jousilahti P, Kajantie E, Kamat M, Karajamaki A, Karpe F, Koistinen HA, Kovesdy CP, Kuulasmaa K, Laatikainen I, Lannfelt L, Lee I-T, Lee W-J, Linneberg A, Martin LW, Moitry M, Nadkarni G, Neville MJ, Palmer CNA, Papanicolaou GJ, Pedersen O, Peters J, Poulter N, Rasheed A, Rasmussen KL, Rayner NW, Magi R, Renstrom F, Rettig R, Rossouw J, Schreiner PJ, Sever PS, Sigurdsson EL, Skaaby T, Sun YV, Sundstrom J, Thorgeirsson G, Esko T, Trabetti E, Tsao PS, Tuomi T, Turner ST, Tzoulaki I, Vaartjes I, Vergnaud A-C, Willer CJ, Wilson PWF, Witte DR, Yonova-Doing E, Zhang H, Aliya N, Almgren P, Amouyel P, Asselbergs FW, Barnes MR, Blakemore AI, Boehnke M, Bots ML, Bottinger EP, Buriet al., 2021, Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals, Nature Genetics, Vol: 53, Pages: 1-2, ISSN: 1061-4036

Journal article

Kusuma D, Pradeepa R, Khawaja KI, Hasan M, Siddiqui S, Mahmood S, Shah SMA, De Silva CK, de Silva L, Gamage M, Loomba M, Rajakaruna VP, Hanif AAM, Kamalesh RB, Kumarendran B, Loh M, Misra A, Tassawar A, Tyagi A, Waghdhare S, Burney S, Ahmad S, Mohan V, Sarker M, Goon IY, Kasturiratne A, Kooner JS, Katulanda P, Jha S, Anjana RM, Mridha MK, Sassi F, Chambers JCet al., 2021, Low uptake of COVID-19 prevention behaviours and high socioeconomic impact of lockdown measures in South Asia: evidence from a large-scale multi-country surveillance programme, SSM - Population Health, Vol: 13, ISSN: 2352-8273

Background. South Asia has become a major epicentre of the COVID-19 pandemic. Understanding South Asians’ awareness, attitudes and experiences of early measures for the prevention of COVID-19 is key to improving the effectiveness and mitigating the social and economic impacts of pandemic responses at a critical time for the Region. Methods. We assessed the knowledge, behaviours, health and socio-economic circumstances of 29,809 adult men and women, at 93 locations across four South Asian countries. Data were collected during the national lockdowns implemented from March to July 2020, and compared with data collected prior to the pandemic as part of an ongoing prospective surveillance initiative. Results. Participants were 61% female, mean age 45.1 years. Almost half had one or more chronic disease, including diabetes (16%), hypertension (23%) or obesity (16%). Knowledge of the primary COVID-19 symptoms and transmission routes was high, but access to hygiene and personal protection resources was low (running water 63%, hand sanitisers 53%, paper tissues 48%). Key preventive measures were not widely adopted. Knowledge, access to, and uptake of COVID-19 prevention measures were low amongst people from disadvantaged socio-economic groups. Fifteen percent of people receiving treatment for chronic diseases reported loss of access to long-term medications; 40% reported symptoms suggestive of anxiety or depression. The prevalence of unemployment rose from 9.3% to 39.4% (P<0.001), and household income fell by 52% (P<0.001) during the lockdown. Younger people and those from less affluent socio-economic groups were most severely impacted. Sedentary time increased by 32% and inadequate fruit and vegetable intake increased by 10% (P<0.001 for both), while tobacco and alcohol consumption dropped by 41% and 80%, respectively (P<0.001), during the lockdown.Conclusions. Our results identified important knowledge, access and uptake barriers to the prevention of COV

Journal article

Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alfoldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Aggregation G, Neale BM, Daly MJ, MacArthur DGet al., 2021, Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans, Nature, Vol: 590, Pages: E53-E53, ISSN: 0028-0836

Journal article

Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N, Rhodes D, Alfoldi J, Trembath RC, van Heel DA, Daly MJ, Schreiber SL, MacArthur DGet al., 2021, Evaluating drug targets through human loss-of-function genetic variation (vol 581, pg 459, 2020), Nature, Vol: 590, Pages: E56-E56, ISSN: 0028-0836

Journal article

Whiffin N, Karczewski KJ, Zhang X, Chothani S, Smith MJ, Evans DG, Roberts AM, Quaife NM, Schafer S, Rackham O, Alfoeldi J, O'Donnell-Luria AH, Francioli LC, Armean IM, Aguilar Salinas CA, Cook SA, Barton PJR, MacArthur DG, Ware JSet al., 2021, Characterising the loss-of-function impact of 5 ' untranslated region variants in 15,708 individuals (vol 11, 2523, 2020), Nature Communications, Vol: 12, Pages: 1-1, ISSN: 2041-1723

Journal article

Wang Q, Pierce-Hoffman E, Cummings BB, Alföldi J, Francioli LC, Gauthier LD, Hill AJ, O'Donnell-Luria AH, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Karczewski KJ, MacArthur DGet al., 2021, Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes., Nature Communications, Vol: 12, Pages: 1-1, ISSN: 2041-1723

Journal article

Cummings BB, Karczewski KJ, Kosmicki JA, Seaby EG, Watts NA, Singer-Berk M, Mudge JM, Karjalainen J, Satterstrom FK, O'Donnell-Luria AH, Poterba T, Seed C, Solomonson M, Alföldi J, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Daly MJ, MacArthur DGet al., 2021, Author Correction: Transcript expression-aware annotation improves rare variant interpretation.

Other

Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang Y, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Taylor KD, Lin HJ, Rich SS, Post WS, Chen Y-DI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski MEet al., 2021, Author Correction: A structural variation reference for medical and population genetics.

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