To determine whether the identified loci were also associated with any of 22 cardio-metabolic traits, we obtained association data from meta-analysis consortia DIAGRAM (T2D)
58 (link), CARDIoGRAM-C4D (CAD)
59 (link), ICBP (SBP, DBP)
60 (link), GIANT (BMI, height)
36 ,37 , GLGC (HDL, LDL, and TG)
61 (link), MAGIC (fasting glucose, fasting insulin, fasting insulin adjusted for BMI, and two-hour glucose)
62 (link)-64 (link), ADIPOGen (BMI-adjusted adiponectin)
65 (link), CKDgen (urine albumin-to-creatinine ratio (UACR), estimated glomerular filtration rate (eGFR), and overall CKD)
66 (link),67 (link), ReproGen (age at menarche, age at menopause)
68 (link),69 (link), and GEFOS (bone mineral density)
70 (link); others provided association data for IgA nephropathy
71 (link) (also Kiryluk K, Choi M, Lifton RP, Gharavi AG, unpublished data) and for endometriosis (stage B cases only)
72 (link). Proxies (
r2>0.80 in CEU) were used when an index SNP was unavailable.
We also searched the National Human Genome Research Institute (NHGRI) GWAS Catalog for previous SNP-trait associations near our lead SNPs
73 (link). We supplemented the catalog with additional genome-wide significant SNP-trait associations from the literature
13 (link),70 (link),74 (link)-80 (link). We used PLINK to identify SNPs within 500 kb of lead SNPs using 1000 Genomes Project Pilot I genotype data and LD (
r2) values from CEU
81 (link),82 (link); for rs7759742, HapMap release 22 CEU data
81 (link),83 (link) were used. All SNPs within the specified regions were compared with the NHGRI GWAS Catalog
16 .
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Shungin D., Winkler T.W., Croteau-Chonka D.C., Ferreira T., Locke A.E., Mägi R., Strawbridge R.J., Pers T.H., Fischer K., Justice A.E., Workalemahu T., Wu J.M., Buchkovich M.L., Heard-Costa N.L., Roman T.S., Drong A.W., Song C., Gustafsson S., Day F.R., Esko T., Fall T., Kutalik Z., Luan J., Randall J.C., Scherag A., Vedantam S., Wood A.R., Chen J., Fehrmann R., Karjalainen J., Kahali B., Liu C.T., Schmidt E.M., Absher D., Amin N., Anderson D., Beekman M., Bragg-Gresham J.L., Buyske S., Demirkan A., Ehret G.B., Feitosa M.F., Goel A., Jackson A.U., Johnson T., Kleber M.E., Kristiansson K., Mangino M., Leach I.M., Medina-Gomez C., Palmer C.D., Pasko D., Pechlivanis S., Peters M.J., Prokopenko I., Stančáková A., Sung Y.J., Tanaka T., Teumer A., Van Vliet-Ostaptchouk J.V., Yengo L., Zhang W., Albrecht E., Ärnlöv J., Arscott G.M., Bandinelli S., Barrett A., Bellis C., Bennett A.J., Berne C., Blüher M., Böhringer S., Bonnet F., Böttcher Y., Bruinenberg M., Carba D.B., Caspersen I.H., Clarke 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Seufferlein T., Sitlani C.M., Smith A.V., Stirrups K., Stringham H.M., Sundström J., Swertz M.A., Swift A.J., Syvänen A.C., Tayo B.O., Thorand B., Thorleifsson G., Tomaschitz A., Troffa C., van Oort F.V., Verweij N., Vonk J.M., Waite L.L., Wennauer R., Wilsgaard T., Wojczynski M.K., Wong A., Zhang Q., Zhao J.H., Brennan E.P., Choi M., Eriksson P., Folkersen L., Franco-Cereceda A., Gharavi A.G., Hedman Å.K., Hivert M.F., Huang J., Kanoni S., Karpe F., Keildson S., Kiryluk K., Liang L., Lifton R.P., Ma B., McKnight A.J., McPherson R., Metspalu A., Min J.L., Moffatt M.F., Montgomery G.W., Murabito J.M., Nicholson G., Nyholt D.R., Olsson C., Perry J.R., Reinmaa E., Salem R.M., Sandholm N., Schadt E.E., Scott R.A., Stolk L., Vallejo E.E., Westra H.J., Zondervan K.T., Amouyel P., Arveiler D., Bakker S.J., Beilby J., Bergman R.N., Blangero J., Brown M.J., Burnier M., Campbell H., Chakravarti A., Chines P.S., Claudi-Boehm S., Collins F.S., Crawford D.C., Danesh J., de Faire U., de Geus E.J., 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