rs12256016 - MGMT

Magnitude 2.2 · 3 studies on file

Reported associations

• A genome-wide association study of bitter and sweet beverage consumption. - Human molecular genetics (2020) · Zhong VW, Kuang A, Danning RD, Kraft P, van Dam RM, Chasman DI, Cornelis MC · PubMed 31046077

  Except for drinking water, most beverages taste bitter or sweet. Taste perception and preferences are heritable and determinants of beverage choice and consumption. Consumption of several bitter- and sweet-tasting beverages has been implicated in development of major chronic diseases. We performed a genome-wide association study (GWAS) of self-reported bitter and sweet beverage consumption among ~370 000 participants of European ancestry, using a two-staged analysis design. Bitter beverages included coffee, tea, grapefruit juice, red wine, liquor and beer. Sweet beverages included artificially and sugar sweetened beverages (SSBs) and non-grapefruit juices. Five loci associated with total bitter beverage consumption were replicated (in/near GCKR, ABCG2, AHR, POR and CYP1A1/2). No locus wa

• Genome-wide Association and Multi-Omics Studies Identify MGMT as a Novel Risk Gene for Alzheimer Disease Among Women - Unknown journal (n.d.) · Unknown authors · PubMed 35770850

  ABSTRACT: INTRODUCTION: Variants in the tau gene (MAPT) region are associated with breast cancer in women and Alzheimer disease (AD) among persons lacking APOE ε4 (ε4-). METHODS: To identify novel genes associated with tau-related pathology, we conducted two genome-wide association studies (GWAS) for AD, one among 10,340 ε4- women in the Alzheimer's Disease Genetics Consortium (ADGC) and another in 31 members (22 women) of a consanguineous Hutterite kindred. RESULTS: We identified novel associations of AD with MGMT variants in ADGC (rs12775171, odds ratio [OR]=1.4, P=4.9×10−8) and Hutterites (rs12256016 and rs2803456, OR=2.0, P=1.9×10−14). Multi-omics analyses showed that the most significant and largest number of associations among the SNPs, DNA-methylated CpGs, MGMT expression

• A Genome-Wide Association Study of Skin and Iris Pigmentation among Individuals of South Asian Ancestry - Unknown journal (n.d.) · Unknown authors · PubMed 30895295

  ABSTRACT: Abstract South Asia has a complex history of migrations and is characterized by substantial pigmentary and genetic diversity. For this reason, it is an ideal region to study the genetic architecture of normal pigmentation variation. Here, we present a meta-analysis of two genome-wide association studies (GWASs) of skin pigmentation using skin reflectance (M-index) as a quantitative phenotype. The meta-analysis includes a sample of individuals of South Asian descent living in Canada (N = 348), and a sample of individuals from two caste and four tribal groups from West Maharashtra, India (N = 480). We also present the first GWAS of iris color in South Asian populations. This GWAS was based on quantitative measures of iris color obtained from high-resolution iris pictures. W

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