rs116611511 - LINC01820, EPAS1

Magnitude 2.0 · 2 studies on file

Reported associations

• Genetic signatures of high-altitude adaptation in Tibetans. - Proceedings of the National Academy of Sciences of the United States of America (2018) · Yang J, Jin ZB, Chen J, Huang XF, Li XM, Liang YB, Mao JY, Chen X, Zheng Z, Bakshi A, Zheng DD, Zheng MQ, Wray NR, Visscher PM, Lu F, Qu J · PubMed 28373541

  Indigenous Tibetan people have lived on the Tibetan Plateau for millennia. There is a long-standing question about the genetic basis of high-altitude adaptation in Tibetans. We conduct a genome-wide study of 7.3 million genotyped and imputed SNPs of 3,008 Tibetans and 7,287 non-Tibetan individuals of Eastern Asian ancestry. Using this large dataset, we detect signals of high-altitude adaptation at nine genomic loci, of which seven are unique. The alleles under natural selection at two of these loci [methylenetetrahydrofolate reductase ( ) and ] are strongly associated with blood-related phenotypes, such as hemoglobin, homocysteine, and folate in Tibetans. The folate-increasing allele of rs1801133 at the locus has an increased frequency in Tibetans more than expected under a drift model, wh

• Phenome-wide analysis of Taiwan Biobank reveals novel glycemia-related loci and genetic risks for diabetes - Unknown journal (n.d.) · Unknown authors · PubMed 36329257

  ABSTRACT: To explore the complex genetic architecture of common diseases and traits, we conducted comprehensive PheWAS of ten diseases and 34 quantitative traits in the community-based Taiwan Biobank (TWB). We identified 995 significantly associated loci with 135 novel loci specific to Taiwanese population. Further analyses highlighted the genetic pleiotropy of loci related to complex disease and associated quantitative traits. Extensive analysis on glycaemic phenotypes (T2D, fasting glucose and HbA1c) was performed and identified 115 significant loci with four novel genetic variants (HACL1, RAD21, ASH1L and GAK). Transcriptomics data also strengthen the relevancy of the findings to metabolic disorders, thus contributing to better understanding of pathogenesis. In addition, genetic risk sc

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