Expressive

rs11752643 - HLA-DQB1 - MTCO3P1

Magnitude 2.8 · 3 studies on file

Reported associations

  • A Genome-Wide Association Study Identifies Blood Disorder-Related Variants Influencing Hemoglobin A With Implications for Glycemic Status in U.S. Hispanics/Latinos. - Diabetes care (2020) · Moon JY, Louie TL, Jain D, Sofer T, Schurmann C, Below JE, Lai CQ, Aviles-Santa ML, Talavera GA, Smith CE, Petty LE, Bottinger EP, Chen YI, Taylor KD, Daviglus ML, Cai J, Wang T, Tucker KL, Ordovás JM, Hanis CL, Loos RJF, Schneiderman N, Rotter JI, Kaplan RC, Qi Q · PubMed 31213470

    We aimed to identify hemoglobin A (HbA )-associated genetic variants and examine their implications for glycemic status evaluated by HbA in U.S. Hispanics/Latinos with diverse genetic ancestries. We conducted a genome-wide association study (GWAS) of HbA in 9,636 U.S. Hispanics/Latinos without diabetes from the Hispanic Community Health Study/Study of Latinos, followed by a replication among 4,729 U.S. Hispanics/Latinos from three independent studies. Our GWAS and replication analyses showed 10 previously known and novel loci associated with HbA at genome-wide significance levels ( < 5.0 × 10 ). In particular, two African ancestry-specific variants, rs334 and -rs1050828, which are causal mutations for sickle cell disease and deficiency, respectively, had ∼10 times larger effect sizes on

  • Genome-wide association study of coronary artery disease in the Japanese. - European journal of human genetics : EJHG (2012) · Takeuchi F, Yokota M, Yamamoto K, Nakashima E, Katsuya T, Asano H, Isono M, Nabika T, Sugiyama T, Fujioka A, Awata N, Ohnaka K, Nakatochi M, Kitajima H, Rakugi H, Nakamura J, Ohkubo T, Imai Y, Shimamoto K, Yamori Y, Yamaguchi S, Kobayashi S, Takayanagi R, Ogihara T, Kato N · PubMed 21971053

    A new understanding of the genetic basis of coronary artery disease (CAD) has recently emerged from genome-wide association (GWA) studies of common single-nucleotide polymorphisms (SNPs), thus far performed mostly in European-descent populations. To identify novel susceptibility gene variants for CAD and confirm those previously identified mostly in populations of European descent, a multistage GWA study was performed in the Japanese. In the discovery phase, we first genotyped 806 cases and 1337 controls with 451 382 SNP markers and subsequently assessed 34 selected SNPs with direct genotyping (541 additional cases) and in silico comparison (964 healthy controls). In the replication phase, involving 3052 cases and 6335 controls, 12 SNPs were tested; CAD association was replicated and/or

  • GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids - Unknown journal (n.d.) · Unknown authors · PubMed 40545721

    ABSTRACT: Summary Previous genome-wide association studies (GWAS) have identified genetic loci associated with the circulating levels of fatty acids (FAs), but the biological mechanisms of these genetic associations remain largely unexplored. Here, we conducted GWAS to identify additional genetic loci for 19 circulating FA traits in UK Biobank participants of European ancestry (n = 239,268) and five other ancestries (n = 508-4,663). We leveraged the GWAS findings to characterize genetic correlations and colocalized regions among FAs, explore sex differences, examine FA loci influenced by lipoprotein metabolism, and apply statistical fine-mapping to pinpoint putative causal variants. We integrated GWAS signals with multi-omics quantitative trait loci (QTL) to reveal intermediate molecular

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