DrCosettaMinelli

Pattaro C, Riegler P, Stifter G, Modenese M, Minelli C, Pramstaller PPet al., 2013, Estimating the Glomerular Filtration Rate in the General Population Using Different Equations: Effects on Classification and Association, NEPHRON CLINICAL PRACTICE, Vol: 123, Pages: 102-111, ISSN: 1660-2110

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• Citations: 28

Chasman DI, Fuchsberger C, Pattaro C, Teumer A, Boeger CA, Endlich K, Olden M, Chen M-H, Tin A, Taliun D, Li M, Gao X, Gorski M, Yang Q, Hundertmark C, Foster MC, O'Seaghdha CM, Glazer N, Isaacs A, Liu C-T, Smith AV, O'Connell JR, Struchalin M, Tanaka T, Li G, Johnson AD, Gierman HJ, Feitosa MF, Hwang S-J, Atkinson EJ, Lohman K, Cornelis MC, Johansson A, Toenjes A, Dehghan A, Lambert J-C, Holliday EG, Sorice R, Kutalik Z, Lehtimaeki T, Esko T, Deshmukh H, Ulivi S, Chu AY, Murgia F, Trompet S, Imboden M, Coassin S, Pistis G, Harris TB, Launer LJ, Aspelund T, Eiriksdottir G, Mitchell BD, Boerwinkle E, Schmidt H, Cavalieri M, Rao M, Hu F, Demirkan A, Oostra BA, de Andrade M, Turner ST, Ding J, Andrews JS, Freedman BI, Giulianini F, Koenig W, Illig T, Meisinger C, Gieger C, Zgaga L, Zemunik T, Boban M, Minelli C, Wheeler HE, Igl W, Zaboli G, Wild SH, Wright AF, Campbell H, Ellinghaus D, Noethlings U, Jacobs G, Biffar R, Ernst F, Homuth G, Kroemer HK, Nauck M, Stracke S, Voelker U, Voelzke H, Kovacs P, Stumvoll M, Maegi R, Hofman A, Uitterlinden AG, Rivadeneira F, Aulchenko YS, Polasek O, Hastie N, Vitart V, Helmer C, Wang JJ, Stengel B, Ruggiero D, Bergmann S, Kahonen M, Viikari J, Nikopensius T, Province M, Ketkar S, Colhoun H, Doney A, Robino A, Kraemer BK, Portas L, Ford I, Buckley BM, Adam M, Thun G-A, Paulweber B, Haun M, Sala C, Mitchell P, Ciullo M, Kim SK, Vollenweider P, Raitakari O, Metspalu A, Palmer C, Gasparini P, Pirastu M, Jukema JW, Probst-Hensch NM, Kronenberg F, Toniolo D, Gudnason V, Shuldiner AR, Coresh J, Schmidt R, Ferrucci L, Siscovick DS, van Duijn CM, Borecki IB, Kardia SLR, Liu Y, Curhan GC, Rudan I, Gyllensten U, Wilson JF, Franke A, Pramstaller PP, Rettig R, Prokopenko I, Witteman J, Hayward C, Ridker PM, Parsa A, Bochud M, Heid IM, Kao WHL, Fox CS, Koettgen Aet al., 2012, Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function, HUMAN MOLECULAR GENETICS, Vol: 21, Pages: 5329-5343, ISSN: 0964-6906

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• Citations: 56

Tang W, Schwienbacher C, Lopez LM, Ben-Shlomo Y, Oudot-Mellakh T, Johnson AD, Samani NJ, Basu S, Goegele M, Davies G, Lowe GDO, Tregouet D-A, Tan A, Pankow JS, Tenesa A, Levy D, Volpato CB, Rumley A, Gow AJ, Minelli C, Yarnell JWG, Porteous DJ, Starr JM, Gallacher J, Boerwinkle E, Visscher PM, Pramstaller PP, Cushman M, Emilsson V, Plump AS, Matijevic N, Morange P-E, Deary IJ, Hicks AA, Folsom ARet al., 2012, Genetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery Disease, AMERICAN JOURNAL OF HUMAN GENETICS, Vol: 91, Pages: 152-162, ISSN: 0002-9297

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• Citations: 73

Biino G, Gasparini P, D'Adamo P, Ciullo M, Nutile T, Toniolo D, Sala C, Minelli C, Goegele M, Balduini CLet al., 2012, Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological, BRITISH JOURNAL OF HAEMATOLOGY, Vol: 157, Pages: 384-387, ISSN: 0007-1048

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• Citations: 28

Goegele M, Minelli C, Thakkinstian A, Yurkiewich A, Pattaro C, Pramstaller PP, Little J, Attia J, Thompson JRet al., 2012, Methods for Meta-Analyses of Genome-wide Association Studies: Critical Assessment of Empirical Evidence, AMERICAN JOURNAL OF EPIDEMIOLOGY, Vol: 175, Pages: 739-749, ISSN: 0002-9262

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• Citations: 37

Pattaro C, Koettgen A, Teumer A, Garnaas M, Boeger CA, Fuchsberger C, Olden M, Chen M-H, Tin A, Taliun D, Li M, Gao X, Gorski M, Yang Q, Hundertmark C, Foster MC, O'Seaghdha CM, Glazer N, Isaacs A, Liu C-T, Smith AV, O'Connell JR, Struchalin M, Tanaka T, Li G, Johnson AD, Gierman HJ, Feitosa M, Hwang S-J, Atkinson EJ, Lohman K, Cornelis MC, Johansson A, Toenjes A, Dehghan A, Chouraki V, Holliday EG, Sorice R, Kutalik Z, Lehtimaeki T, Esko T, Deshmukh H, Ulivi S, Chu AY, Murgia F, Trompet S, Imboden M, Kollerits B, Pistis G, Harris TB, Launer LJ, Aspelund T, Eiriksdottir G, Mitchell BD, Boerwinkle E, Schmidt H, Cavalieri M, Rao M, Hu FB, Demirkan A, Oostra BA, de Andrade M, Turner ST, Ding J, Andrews JS, Freedman BI, Koenig W, Illig T, Doering A, Wichmann H-E, Kolcic I, Zemunik T, Boban M, Minelli C, Wheeler HE, Igl W, Zaboli G, Wild SH, Wright AF, Campbell H, Ellinghaus D, Nothlings U, Jacobs G, Biffar R, Endlich K, Ernst F, Homuth G, Kroemer HK, Nauck M, Stracke S, Voelker U, Voelzke H, Kovacs P, Stumvoll M, Magi R, Hofman A, Uitterlinden AG, Rivadeneira F, Aulchenko YS, Polasek O, Hastie N, Vitart V, Helmer C, Wang JJ, Ruggiero D, Bergmann S, Kaehoenen M, Viikari J, Nikopensius T, Province M, Ketkar S, Colhoun H, Doney A, Robino A, Giulianini F, Kraemer BK, Portas L, Ford I, Buckley BM, Adam M, Thun G-A, Paulweber B, Haun M, Sala C, Metzger M, Mitchell P, Ciullo M, Kim SK, Vollenweider P, Raitakari O, Metspalu A, Palmer C, Gasparini P, Pirastu M, Jukema JW, Probst-Hensch NM, Kronenberg F, Toniolo D, Gudnason V, Shuldiner AR, Coresh J, Schmidt R, Ferrucci L, Siscovick DS, van Duijn CM, Borecki I, Kardia SLR, Liu Y, Curhan GC, Rudan I, Gyllensten U, Wilson JF, Franke A, Pramstaller PP, Rettig R, Prokopenko I, Witteman JCM, Hayward C, Ridker P, Parsa A, Bochud M, Heid IM, Goessling W, Chasman DI, Kao WHL, Fox CSet al., 2012, Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function, PLOS GENETICS, Vol: 8, ISSN: 1553-7404

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• Citations: 144

Canova C, Dunster C, Kelly FJ, Minelli C, Shah PL, Caneja C, Tumilty MK, Burney Pet al., 2012, PM10-induced hospital admissions for asthma and chronic obstructive pulmonary disease: the modifying effect of individual characteristics, Epidemiology, Vol: 23, Pages: 607-615, ISSN: 1531-5487

BACKGROUND: Evidence suggests that oxidative stress is a unifying feature underlying the toxic actions of particulate matter (PM). We have investigated whether individual plasma antioxidant concentrations (uric acid and vitamins C, A, and E) and 10 antioxidant genes modify the response to PM with respect to hospital admissions for chronic obstructive pulmonary disease (COPD) or asthma. METHODS: Using a bidirectional, hospital-based, case-crossover study, 209 patients admitted for asthma or COPD to the Chelsea and Westminster Hospital (London), with 234 admissions, were recruited between May 2008 and July 2010. PM10 levels in the area of Kensington and Chelsea at the time of admission were compared with the levels 14 days before and 14 days after the event. Conditional logistic regression was used to estimate the effect of PM10 at several temporal lags, while controlling for confounders. RESULTS: An increase in asthma/COPD admission rate was related to a 10 mug/m increase in PM10, with the highest effect noted 0-3 days before the exacerbation (for lag 0-3, odds ratio = 1.35 [95% confidence interval = 1.04-1.76]). Serum vitamin C modified the effect of PM10 on asthma/COPD exacerbations. A similar (although weaker) influence was observed for low levels of uric acid and vitamin E, whereas vitamin A showed no effect modification. GSTP1 (rs1695), SOD2 (rs4880), and Nrf2 (rs1806649) were associated with a trend toward an increased risk of hospital admissions during periods of high PM10 levels. CONCLUSIONS: Our study suggests that the concentration of antioxidants in patients' serum modifies the short-term effects of PM10 on asthma and COPD exacerbations.

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Bennett DA, Little J, Masson LF, Minelli Cet al., 2011, Study protocol: the empirical investigation of methods to correct for measurement error in biobanks with dietary assessment, BMC Medical Research Methodology, Vol: 11, ISSN: 1471-2288

BACKGROUND: The Public Population Project in Genomics (P3G) is an organisation that aims to promote collaboration between researchers in the field of population-based genomics. The main objectives of P3G are to encourage collaboration between researchers and biobankers, optimize study design, promote the harmonization of information use in biobanks, and facilitate transfer of knowledge between interested parties. The importance of calibration and harmonisation of methods for environmental exposure assessment to allow pooling of data across studies in the evaluation of gene-environment interactions has been recognised by P3G, which has set up a methodological group on calibration with the aim of; 1) reviewing the published methodological literature on measurement error correction methods with assumptions and methods of implementation; 2) reviewing the evidence available from published nutritional epidemiological studies that have used a calibration approach; 3) disseminating information in the form of a comparison chart on approaches to perform calibration studies and how to obtain correction factors in order to support research groups collaborating within the P3G network that are unfamiliar with the methods employed; 4) with application to the field of nutritional epidemiology, including gene-diet interactions, ultimately developing a inventory of the typical correction factors for various nutrients. METHODS/DESIGN: Systematic review of (a) the methodological literature on methods to correct for measurement error in epidemiological studies; and (b) studies that have been designed primarily to investigate the association between diet and disease and have also corrected for measurement error in dietary intake. DISCUSSION: The conduct of a systematic review of the methodological literature on calibration will facilitate the evaluation of methods to correct for measurement error and the design of calibration studies for the prospective pooling of biobanks. This could in

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Minelli C, Goegele M, 2011, The role of antioxidant gene polymorphisms in modifying the health effects of environmental exposures causing oxidative stress: A public health perspective, FREE RADICAL BIOLOGY AND MEDICINE, Vol: 51, Pages: 925-930, ISSN: 0891-5849

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• Citations: 7

Volpato CB, De Grandi A, Goegele M, Taliun D, Fuchsberger C, Facheris MF, Minelli C, Pattaro C, Pramstaller PP, Hicks AAet al., 2011, Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27, JOURNAL OF MEDICAL GENETICS, Vol: 48, Pages: 549-556, ISSN: 0022-2593

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• Citations: 5

Thompson JR, Attia J, Minelli C, 2011, The meta-analysis of genome-wide association studies, BRIEFINGS IN BIOINFORMATICS, Vol: 12, Pages: 259-269, ISSN: 1467-5463

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• Citations: 47

Minelli C, Wei I, Sagoo G, Jarvis D, Shaheen S, Burney Pet al., 2011, Interactive Effects of Antioxidant Genes and Air Pollution on Respiratory Function and Airway Disease: A HuGE Review, AMERICAN JOURNAL OF EPIDEMIOLOGY, Vol: 173, Pages: 603-620, ISSN: 0002-9262

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• Citations: 69

Pichler I, Minelli C, Sanna S, Tanaka T, Schwienbacher C, Naitza S, Porcu E, Pattaro C, Busonero F, Zanon A, Maschio A, Melville SA, Piras MG, Longo DL, Guralnik J, Hernandez D, Bandinelli S, Aigner E, Murphy AT, Wroblewski V, Marroni F, Theurl I, Gnewuch C, Schadt E, Mitterer M, Schlessinger D, Ferrucci L, Witcher DR, Hicks AA, Weiss G, Uda M, Pramstaller PPet al., 2011, Identification of a common variant in the <i>TFR2</i> gene implicated in the physiological regulation of serum iron levels, HUMAN MOLECULAR GENETICS, Vol: 20, Pages: 1232-1240, ISSN: 0964-6906

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• Citations: 60

Oexle K, Ried JS, Hicks AA, Tanaka T, Hayward C, Bruegel M, Goegele M, Lichtner P, Mueller-Myhsok B, Doering A, Illig T, Schwienbacher C, Minelli C, Pichler I, Fiedler GM, Thiery J, Rudan I, Wright AF, Campbell H, Ferrucci L, Bandinelli S, Pramstaller PP, Wichmann H-E, Gieger C, Winkelmann J, Meitinger Tet al., 2011, Novel association to the proprotein convertase <i>PCSK7</i> gene locus revealed by analysing soluble transferrin receptor (sTfR) levels, HUMAN MOLECULAR GENETICS, Vol: 20, Pages: 1042-1047, ISSN: 0964-6906

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• Citations: 56

Boeger CA, Chen M-H, Tin A, Olden M, Koettgen A, de Boer IH, Fuchsberger C, O'Seaghdha CM, Pattaro C, Teumer A, Liu C-T, Glazer NL, Li M, O'Conne JR, Tanaka T, Peralta CA, Kutalik Z, Luan J, Zhao JH, Hwang S-J, Akylbekova E, Kramer H, van der Harst P, Smith AV, Lohman K, de Andrade M, Hayward C, Kollerits B, Toenjes A, Aspelund T, Ingelsson E, Eiriksdottir G, Launer LJ, Harris TB, Shuldiner AR, Mitchell BD, Arking DE, Franceschini N, Boerwinkle E, Egan J, Hernandez D, Reilly M, Townsend RR, Lumley T, Siscovick DS, Psaty BM, Kestenbaum B, Haritunians T, Bergmann S, Vollenweider P, Waeber G, Mooser V, Waterworth D, Johnson AD, Florez JC, Meigs JB, Lu X, Turner ST, Atkinson EJ, Leak TS, Aasarod K, Skorpen F, Syvaenen A-C, Illig T, Baumert J, Koenig W, Kraemer BK, Devuyst O, Mychaleckyj JC, Minelli C, Bakker SJL, Kedenko L, Paulweber B, Coassin S, Endlich K, Kroemer HK, Biffar R, Stracke S, Voelzke H, Stumvol M, Maegi R, Campbell H, Vitart V, Hastie ND, Gudnason V, Kardia SLR, Liu Y, Polasek O, Curhan G, Kronenberg F, Prokopenko I, Rudan I, Aernloev J, Hallan S, Navis G, Parsa A, Ferrucci L, Coresh J, Shlipak MG, Bul SB, Paterson AD, Wichmann H-E, Wareham NJ, Loos RJF, Rotter JI, Pramstaller PP, Cupples LA, Beckmann JS, Yang Q, Heid IM, Rettig R, Dreisbach AW, Bochud M, Fox CS, Kao WHLet al., 2011, <i>CUBN</i> Is a Gene Locus for Albuminuria, JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, Vol: 22, Pages: 555-570, ISSN: 1046-6673

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• Citations: 178

Facheris MF, Hicks AA, Minelli C, Hagenah JM, Kostic V, Campbell S, Hayward C, Volpato CB, Pattaro C, Vitart V, Wright A, Campbell H, Klein C, Pramstaller PPet al., 2011, Variation in the Uric Acid Transporter Gene SLC2A9 and Its Association with AAO of Parkinson's Disease, JOURNAL OF MOLECULAR NEUROSCIENCE, Vol: 43, Pages: 246-250, ISSN: 0895-8696

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• Citations: 40

Edbrooke DL, Minelli C, Mills GH, Iapichino G, Pezzi A, Corbella D, Jacobs P, Lippert A, Wiis J, Pesenti A, Patroniti N, Pirracchio R, Payen D, Gurman G, Bakker J, Kesecioglu J, Hargreaves C, Cohen SL, Baras M, Artigas A, Sprung CLet al., 2011, Implications of ICU triage decisions on patient mortality: a cost-effectiveness analysis, Critical Care, Vol: 15, ISSN: 1364-8535

INTRODUCTION: Intensive care is generally regarded as expensive, and as a result beds are limited. This has raised serious questions about rationing when there are insufficient beds for all those referred. However, the evidence for the cost effectiveness of intensive care is weak and the work that does exist usually assumes that those who are not admitted do not survive, which is not always the case. Randomised studies of the effectiveness of intensive care are difficult to justify on ethical grounds; therefore, this observational study examined the cost effectiveness of ICU admission by comparing patients who were accepted into ICU after ICU triage to those who were not accepted, while attempting to adjust such comparison for confounding factors. METHODS: This multi-centre observational cohort study involved 11 hospitals in 7 EU countries and was designed to assess the cost effectiveness of admission to intensive care after ICU triage. A total of 7,659 consecutive patients referred to the intensive care unit (ICU) were divided into those accepted for admission and those not accepted. The two groups were compared in terms of cost and mortality using multilevel regression models to account for differences across centres, and after adjusting for age, Karnofsky score and indication for ICU admission. The analyses were also stratified by categories of Simplified Acute Physiology Score (SAPS) II predicted mortality (< 5%, 5% to 40% and >40%). Cost effectiveness was evaluated as cost per life saved and cost per life-year saved. RESULTS: Admission to ICU produced a relative reduction in mortality risk, expressed as odds ratio, of 0.70 (0.52 to 0.94) at 28 days. When stratified by predicted mortality, the odds ratio was 1.49 (0.79 to 2.81), 0.7 (0.51 to 0.97) and 0.55 (0.37 to 0.83) for <5%, 5% to 40% and >40% predicted mortality, respectively. Average cost per life saved for all patients was $103,771 (€82,358) and cost per life-year saved was $7,065 (&euro

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Del Greco M F, Pattaro C, Luchner A, Pichler I, Winkler T, Hicks AA, Fuchsberger C, Franke A, Melville SA, Peters A, Wichmann HE, Schreiber S, Heid IM, Krawczak M, Minelli C, Wiedermann CJ, Pramstaller PPet al., 2011, Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster, Human Molecular Genetics, Vol: 20, Pages: 1660-1671, ISSN: 1460-2083

High blood concentration of the N-terminal cleavage product of the B-type natriuretic peptide (NT-proBNP) is strongly associated with cardiac dysfunction and is increasingly used for heart failure diagnosis. To identify genetic variants associated with NT-proBNP level, we performed a genome-wide association analysis in 1325 individuals from South Tyrol, Italy, and followed up the most significant results in 1746 individuals from two German population-based studies. A genome-wide significant signal in the MTHFR-CLCN6-NPPA-NPPB gene cluster was replicated, after correction for multiple testing (replication one-sided P-value = 8.4 × 10(-10)). A conditional regression analysis of 128 single-nucleotide polymorphisms in the region of interest identified novel variants in the CLCN6 gene as independently associated with NT-proBNP. In this locus, four haplotypes were associated with increased NT-proBNP levels (haplotype-specific combined P-values from 8.3 × 10(-03) to 9.3 × 10(-11)). The observed increase in the NT-proBNP level was proportional to the number of haplotype copies present (i.e. dosage effect), with an increase associated with two copies that varied between 20 and 100 pg/ml across populations. The identification of novel variants in the MTHFR-CLCN6-NPPA-NPPB cluster provides new insights into the biological mechanisms of cardiac dysfunction.

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Goegele M, Pattaro C, Fuchsberger C, Minelli C, Pramstaller PP, Wjst Met al., 2011, Heritability Analysis of Life Span in a Semi-isolated Population Followed Across Four Centuries Reveals the Presence of Pleiotropy Between Life Span and Reproduction, JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES, Vol: 66, Pages: 26-37, ISSN: 1079-5006

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• Citations: 44

Minelli C, Thompson J, 2010, Meta-analysis of genetic association studies: magic tool or dangerous black box?, EUROPEAN JOURNAL OF EPIDEMIOLOGY, Vol: 25, Pages: 761-763, ISSN: 0393-2990

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Iapichino G, Corbella D, Minelli C, Mills GH, Artigas A, Edbooke DL, Pezzi A, Kesecioglu J, Patroniti N, Baras M, Sprung CLet al., 2010, Reasons for refusal of admission to intensive care and impact on mortality, INTENSIVE CARE MEDICINE, Vol: 36, Pages: 1772-1779, ISSN: 0342-4642

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• Citations: 79

Koettgen A, Pattaro C, Boeger CA, Fuchsberger C, Olden M, Glazer NL, Parsa A, Gao X, Yang Q, Smith AV, O'Connell JR, Li M, Schmidt H, Tanaka T, Isaacs A, Ketkar S, Hwang S-J, Johnson AD, Dehghan A, Teumer A, Pare G, Atkinson EJ, Zeller T, Lohman K, Cornelis MC, Probst-Hensch NM, Kronenberg F, Toenjes A, Hayward C, Aspelund T, Eiriksdottir G, Launer LJ, Harris TB, Rampersaud E, Mitchell BD, Arking DE, Boerwinkle E, Struchalin M, Cavalieri M, Singleton A, Giallauria F, Metter J, de Boer IH, Haritunians T, Lumley T, Siscovick D, Psaty BM, Zillikens MC, Oostra BA, Feitosa M, Province M, de Andrade M, Turner ST, Schillert A, Ziegler A, Wild PS, Schnabel RB, Wilde S, Munzel T, Leak TS, Illig T, Klopp N, Meisinger C, Wichmann H-E, Koenig W, Zgaga L, Zemunik T, Kolcic I, Minelli C, Hu FB, Johansson A, Igl W, Zaboli G, Wild SH, Wright AF, Campbell H, Ellinghaus D, Schreiber S, Aulchenko YS, Felix JF, Rivadeneira F, Uitterlinden AG, Hofman A, Imboden M, Nitsch D, Brandstaetter A, Kollerits B, Kedenko L, Maegi R, Stumvoll M, Kovacs P, Boban M, Campbell S, Endlich K, Voelzke H, Kroemer HK, Nauck M, Voelker U, Polasek O, Vitart V, Badola S, Parker AN, Ridker PM, Kardia SLR, Blankenberg S, Liu Y, Curhan GC, Franke A, Rochat T, Paulweber B, Prokopenko I, Wang W, Gudnason V, Shuldiner AR, Coresh J, Schmidt R, Ferrucci L, Shlipak MG, van Duijn CM, Borecki I, Kraemer BK, Rudan I, Gyllensten U, Wilson JF, Witteman JC, Pramstaller PP, Rettig R, Hastie N, Chasman DI, Kao WH, Heid IM, Fox CSet al., 2010, New loci associated with kidney function and chronic kidney disease, NATURE GENETICS, Vol: 42, Pages: 376-U34, ISSN: 1061-4036

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• Citations: 616

Pattaro C, De Grandi A, Vitart V, Hayward C, Franke A, Aulchenko YS, Johansson A, Wild SH, Melville SA, Isaacs A, Polasek O, Ellinghaus D, Kolcic I, Nöthlings U, Zgaga L, Zemunik T, Gnewuch C, Schreiber S, Campbell S, Hastie N, Boban M, Meitinger T, Oostra BA, Riegler P, Minelli C, Wright AF, Campbell H, van Duijn CM, Gyllensten U, Wilson JF, Krawczak M, Rudan I, Pramstaller PP, EUROSPAN consortiumet al., 2010, A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2with serum creatinine level, BMC Medical Genetics, Vol: 11, ISSN: 1471-2350

BACKGROUND: Serum creatinine (S CR) is the most important biomarker for a quick and non-invasive assessment of kidney function in population-based surveys. A substantial proportion of the inter-individual variability in S CR level is explicable by genetic factors. METHODS: We performed a meta-analysis of genome-wide association studies of S CR undertaken in five population isolates ('discovery cohorts'), all of which are part of the European Special Population Network (EUROSPAN) project. Genes showing the strongest evidence for an association with SCR (candidate loci) were replicated in two additional population-based samples ('replication cohorts'). RESULTS: After the discovery meta-analysis, 29 loci were selected for replication. Association between SCR level and polymorphisms in the collagen type XXII alpha 1 (COL22A1) gene, on chromosome 8, and in the synaptotagmin-1 (SYT1) gene, on chromosome 12, were successfully replicated in the replication cohorts (p value = 1.0 x 10(-6) and 1.7 x 10(-4), respectively). Evidence of association was also found for polymorphisms in a locus including the gamma-aminobutyric acid receptor rho-2 (GABRR2) gene and the ubiquitin-conjugating enzyme E2-J1 (UBE2J1) gene (replication p value = 3.6 x 10(-3)). Previously reported findings, associating glomerular filtration rate with SNPs in the uromodulin (UMOD) gene and in the schroom family member 3 (SCHROOM3) gene were also replicated. CONCLUSIONS: While confirming earlier results, our study provides new insights in the understanding of the genetic basis of serum creatinine regulatory processes. In particular, the association with the genes SYT1 and GABRR2 corroborate previous findings that highlighted a possible role of the neurotransmitters GABAA receptors in the regulation of the glomerular basement membrane and a possible interaction between GABAA receptors and synaptotagmin-I at the podocyte level.

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Minelli C, Granell R, Newson R, Rose-Zerilli MJ, Torrent M, Ring SM, Holloway JW, Shaheen SO, Henderson JAet al., 2009, Glutathione-S-transferase genes and asthma phenotypes: a Human Genome Epidemiology (HuGE) systematic review and meta-analysis including unpublished data, International Journal of Epidemiology, Vol: 39, Pages: 539-562, ISSN: 1464-3685

Background Oxidative stress is thought to be involved in the pathogenesis of asthma. Glutathione-S-transferase (GST) enzymes, which play an important role in antioxidant defences, may therefore influence asthma risk. Two common deletion polymorphisms of GSTM1 and GSTT1 genes and the GSTP1 Ile105Val polymorphism have been associated with asthma in children and adults, but results are inconsistent across studies.Methods Systematic review and meta-analysis of the effects of GST genes on asthma, wheezing and bronchial hyper-responsiveness (BHR), with inclusion of unpublished data from three studies, including the large Avon Longitudinal Study of Parents and Children (ALSPAC). Random effect or fixed effect models were used as appropriate, and sensitivity analyses were performed to assess the impact of study characteristics and quality on pooled results.Results The meta-analyses of GSTM1 (n = 22 studies) and GSTT1 (n = 19) showed increased asthma risk associated with the null genotype, but there was extreme between-study heterogeneity and publication bias and the association disappeared when meta-analysis was restricted to the largest studies. Meta-analysis of GSTP1 Ile105Val (n = 17) and asthma suggested a possible protective effect of the Val allele, but heterogeneity was extreme. Few studies evaluated wheezing and BHR and most reported no associations, although weak evidence was found for positive associations of GSTM1 null and GSTP1 Val allele with wheezing and a negative association of GSTP1 Val allele with BHR.Conclusions Our findings do not support a substantial role of GST genes alone in the development of asthma. Future studies of large size should focus on interactions of GST genes with environmental oxidative exposures and with other genes involved in antioxidant pathways. Quality of study conduct and reporting needs to be improved to increase credibility of the evidence accumulating over time.

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Minelli C, Thompson JR, Abrams KR, Thakkinstian A, Attia Jet al., 2009, The Quality of Meta-Analyses of Genetic Association Studies: A Review With Recommendations, American Journal of Epidemiology, Vol: 170, Pages: 1333-1343, ISSN: 1476-6256

Although there has been a rapid rise in the publication of meta-analyses of genetic association studies, little is known about their methodological quality. The authors reviewed the quality of 120 randomly selected genetic meta-analyses published between 2005 and 2007. Data extracted included issues of general relevance and other issues specific to genetic epidemiology. Quality was markedly poorer in the 26% of the meta-analyses that accompanied a report on a primary study. Such meta-analyses were predominantly published in specialist journals, and their quality was positively associated with the impact factor of the journal. Among the meta-analyses that did not accompany a primary study, Human Genome Epidemiology reviews tended to score better than the others, although the comparison was limited by relatively small numbers. Comparison of the overall quality with that of genetic meta-analyses published before 2000 showed improvement in both conduct and reporting. However, the quality of the handling of specific genetic issues remains disappointingly low. For a few key general quality issues, the authors compared their findings with findings in other fields of medicine and found that general quality was similar. On the basis of this review, the authors provide practical recommendations for the conduct and reporting of genetic meta-analyses.

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Attia J, Ioannidis JPA, Thakkinstian A, McEvoy M, Scott RJ, Minelli C, Thompson J, Infante-Rivard C, Guyatt Get al., 2009, How to Use an Article About Genetic Association: A: Background Concepts (vol 301, pg 74, 2009), JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, Vol: 301, Pages: 1024-1024, ISSN: 0098-7484

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Attia J, Ioannidis JPA, Thakkinstian A, McEvoy M, Scott RJ, Minelli C, Thompson J, Infante-Rivard C, Guyatt Get al., 2009, How to Use an Article About Genetic Association C: What Are the Results and Will They Help Me in Caring for My Patients?, JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, Vol: 301, Pages: 304-308, ISSN: 0098-7484

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• Citations: 53

Attia J, Ioannidis JPA, Thakkinstian A, McEvoy M, Scott RJ, Minelli C, Thompson J, Infante-Rivard C, Guyatt Get al., 2009, How to Use an Article About Genetic Association B: Are the Results of the Study Valid?, JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, Vol: 301, Pages: 191-197, ISSN: 0098-7484

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• Citations: 123

Attia J, Ioannidis JPA, Thakkinstian A, McEvoy M, Scott RJ, Minelli C, Thompson J, Infante-Rivard C, Guyatt Get al., 2009, How to Use an Article About Genetic Association A: Background Concepts, JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, Vol: 301, Pages: 74-81, ISSN: 0098-7484

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• Citations: 85

Artigas A, Edbrooke DL, Minelli C, Mills GH, Pezzi A, Iapichino G, Jacobs P, Corbella D, Sprung CLet al., 2009, Is Rationing of Intensive Care Justifiable? A Cost Effectiveness Analysis, AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, Vol: 179, ISSN: 1073-449X

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