rs11823264 - ARHGEF12

Magnitude 2.2 · 2 studies on file

Reported associations

• ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure. - Human molecular genetics (2015) · Springelkamp H, Iglesias AI, Cuellar-Partida G, Amin N, Burdon KP, van Leeuwen EM, Gharahkhani P, Mishra A, van der Lee SJ, Hewitt AW, Rivadeneira F, Viswanathan AC, Wolfs RC, Martin NG, Ramdas WD, van Koolwijk LM, Pennell CE, Vingerling JR, Mountain JE, Uitterlinden AG, Hofman A, Mitchell P, Lemij HG, Wang JJ, Klaver CC, Mackey DA, Craig JE, van Duijn CM, MacGregor S · PubMed 25637523

  Primary open-angle glaucoma (POAG) is a blinding disease. Two important risk factors for this disease are a positive family history and elevated intraocular pressure (IOP), which is also highly heritable. Genes found to date associated with IOP and POAG are ABCA1, CAV1/CAV2, GAS7 and TMCO1. However, these genes explain only a small part of the heritability of IOP and POAG. We performed a genome-wide association study of IOP in the population-based Rotterdam Study I and Rotterdam Study II using single nucleotide polymorphisms (SNPs) imputed to 1000 Genomes. In this discovery cohort (n = 8105), we identified a new locus associated with IOP. The most significantly associated SNP was rs58073046 (β = 0.44, P-value = 1.87 × 10(-8), minor allele frequency = 0.12), within the gene ARHGEF12. Inde

• New role of fat-free mass in cancer risk linked with genetic predisposition - Unknown journal (n.d.) · Unknown authors · PubMed 38538606

  ABSTRACT: Cancer risk is associated with the widely debated measure body mass index (BMI). Fat mass and fat-free mass measurements from bioelectrical impedance may further clarify this association. The UK Biobank is a rare resource in which bioelectrical impedance and BMI data was collected on ~ 500,000 individuals. Using this dataset, a comprehensive analysis using regression, principal component and genome-wide genetic association, provided multiple levels of evidence that increasing whole body fat (WBFM) and fat-free mass (WBFFM) are both associated with increased post-menopausal breast cancer risk, and colorectal cancer risk in men. WBFM was inversely associated with prostate cancer. We also identified rs615029[T] and rs1485995[G] as associated in independent analyses with both PMB

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