rs12377462 - APTX

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men. - Human molecular genetics (2012) · Lin X, Lu D, Gao Y, Tao S, Yang X, Feng J, Tan A, Zhang H, Hu Y, Qin X, Kim ST, Peng T, Li L, Mo L, Zhang S, Trent JM, Mo Z, Zheng SL, Xu J, Sun J · PubMed 22367966

  Vitamin B12 (VitB12 or cobalamin) is an essential cofactor in several metabolic pathways. Clinically, VitB12 deficiency is associated with pernicious anemia, neurodegenerative disorder, cardiovascular disease and gastrointestinal disease. Although previous genome-wide association studies (GWAS) identified several genes, including FUT2, CUBN, TCN1 and MUT, that may influence VitB12 levels in European populations, common genetic determinants of VitB12 remain largely unknown, especially in Asian populations. Here we performed a GWAS in 1999 healthy Chinese men and replicated the top findings in an independent Chinese sample with 1496 subjects. We identified four novel genomic loci that were significantly associated with serum level of VitB12 at a genome-wide significance level of 5.00 × 10(-

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