Expressive

rs10180663 - DTNB

Magnitude 4.5 · 3 studies on file

Reported associations

  • A meta-analysis of genome-wide association studies of multiple myeloma among men and women of African ancestry. - Blood advances (2021) · Du Z, Weinhold N, Song GC, Rand KA, Van Den Berg DJ, Hwang AE, Sheng X, Hom V, Ailawadhi S, Nooka AK, Singhal S, Pawlish K, Peters ES, Bock C, Mohrbacher A, Stram A, Berndt SI, Blot WJ, Casey G, Stevens VL, Kittles R, Goodman PJ, Diver WR, Hennis A, Nemesure B, Klein EA, Rybicki BA, Stanford JL, Witte JS, Signorello L, John EM, Bernstein L, Stroup AM, Stephens OW, Zangari M, Van Rhee F, Olshan A, Zheng W, Hu JJ, Ziegler R, Nyante SJ, Ingles SA, Press MF, Carpten JD, Chanock SJ, Mehta J, Colditz GA, Wolf J, Martin TG, Tomasson M, Fiala MA, Terebelo H, Janakiraman N, Kolonel L, Anderson KC, Le Marchand L, Auclair D, Chiu BC, Ziv E, Stram D, Vij R, Bernal-Mizrachi L, Morgan GJ, Zonder JA, Huff CA, Lonial S, Orlowski RZ, Conti DV, Haiman CA, Cozen W · PubMed 31935283

    Persons of African ancestry (AA) have a twofold higher risk for multiple myeloma (MM) compared with persons of European ancestry (EA). Genome-wide association studies (GWASs) support a genetic contribution to MM etiology in individuals of EA. Little is known about genetic risk factors for MM in individuals of AA. We performed a meta-analysis of 2 GWASs of MM in 1813 cases and 8871 controls and conducted an admixture mapping scan to identify risk alleles. We fine-mapped the 23 known susceptibility loci to find markers that could better capture MM risk in individuals of AA and constructed a polygenic risk score (PRS) to assess the aggregated effect of known MM risk alleles. In GWAS meta-analysis, we identified 2 suggestive novel loci located at 9p24.3 and 9p13.1 at P < 1 × 10-6; however, no

  • The CCND1 870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma - Unknown journal (n.d.) · Unknown authors · PubMed 23502783

    ABSTRACT: A number of specific chromosomal abnormalities define the subgroups of multiple myeloma. In a meta-analysis of two genomewide association studies of multiple myeloma totaling 1,661 patients we investigated risk for developing a specific tumor karyotype. The t(11;14) (q13;q32) translocation in which CCDN1 is placed under the control of the immunoglobin heavy chain enhancer was strongly associated with the CCDN1 870G>A polymorphism (P =7.96 x10-11). These results provide for a model in which a constitutional genetic factor is associated with risk of a specific chromosomal translocation. FULL TEXT: [INTRO] Multiple myeloma is a malignancy of the plasma cells that primarily localize to the bone marrow. Multiple myeloma can be broadly divided into hyperdiploid (HD) and non-hyperdiplo

  • The power of genetic diversity in genome-wide association studies of lipids - Unknown journal (n.d.) · Unknown authors · PubMed 34887591

    ABSTRACT: Elevated blood lipid levels are heritable risk factors of cardiovascular disease with varying prevalence worldwide due to differing dietary patterns and medication use. Despite advances in prevention and treatment, particularly through the lowering of low-density lipoprotein cholesterol levels, heart disease remains the leading cause of death worldwide. Genome-wide association studies (GWAS) of blood lipid levels have led to important biological and clinical insights, as well as new drug targets, for cardiovascular disease. However, most previous GWAS have been conducted in European ancestry populations and may have missed genetic variants contributing to lipid level variation in other ancestry groups due to differences in allele frequencies, effect sizes, and linkage-disequilibr

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