rs10190845 - FBLN7 - ZC3H8

Magnitude 4.5 · 1 study on file

Reported associations

• Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density. - Annals of the rheumatic diseases (2019) · Alonso N, Estrada K, Albagha OME, Herrera L, Reppe S, Olstad OK, Gautvik KM, Ryan NM, Evans KL, Nielson CM, Hsu YH, Kiel DP, Markozannes G, Ntzani EE, Evangelou E, Feenstra B, Liu X, Melbye M, Masi L, Brandi ML, Riches P, Daroszewska A, Olmos JM, Valero C, Castillo J, Riancho JA, Husted LB, Langdahl BL, Brown MA, Duncan EL, Kaptoge S, Khaw KT, Usategui-Martín R, Del Pino-Montes J, González-Sarmiento R, Lewis JR, Prince RL, D'Amelio P, García-Giralt N, Nogués X, Mencej-Bedrac S, Marc J, Wolstein O, Eisman JA, Oei L, Medina-Gómez C, Schraut KE, Navarro P, Wilson JF, Davies G, Starr J, Deary I, Tanaka T, Ferrucci L, Gianfrancesco F, Gennari L, Lucas G, Elosua R, Uitterlinden AG, Rivadeneira F, Ralston SH · PubMed 29170203

  To identify genetic determinants of susceptibility to clinical vertebral fractures, which is an important complication of osteoporosis. Here we conduct a genome-wide association study in 1553 postmenopausal women with clinical vertebral fractures and 4340 controls, with a two-stage replication involving 1028 cases and 3762 controls. Potentially causal variants were identified using expression quantitative trait loci (eQTL) data from transiliac bone biopsies and bioinformatic studies. A locus tagged by rs10190845 was identified on chromosome 2q13, which was significantly associated with clinical vertebral fracture (P=1.04×10 ) with a large effect size (OR 1.74, 95% CI 1.06 to 2.6). Bioinformatic analysis of this locus identified several potentially functional SNPs that are associated wit

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