Expressive

rs1052501 - ULK4

Magnitude 2.8 · 2 studies on file

Reported associations

  • Germline variants at SOHLH2 influence multiple myeloma risk - Unknown journal (n.d.) · Unknown authors · PubMed 33875642

    ABSTRACT: Multiple myeloma (MM) is caused by the uncontrolled, clonal expansion of plasma cells. While there is epidemiological evidence for inherited susceptibility, the molecular basis remains incompletely understood. We report a genome-wide association study totalling 5,320 cases and 422,289 controls from four Nordic populations, and find a novel MM risk variant at SOHLH2 at 13q13.3 (risk allele frequency = 3.5%; odds ratio = 1.38; P = 2.2 × 10−14). This gene encodes a transcription factor involved in gametogenesis that is normally only weakly expressed in plasma cells. The association is represented by 14 variants in linkage disequilibrium. Among these, rs75712673 maps to a genomic region with open chromatin in plasma cells, and upregulates SOHLH2 in this cell type.

  • Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk - Unknown journal (n.d.) · Unknown authors · PubMed 22120009

    ABSTRACT: To identify risk variants for multiple myeloma (MM), we conducted a genome-wide association study totaling of 1,675 MM cases and 5,903 controls. We identified risk loci for MM at 3p22.1 (rs1052501, ULK4; odds ratio [OR]=1.32; P=7.47x10-9) and 7p15.3 (rs4487645, OR=1.38; P=3.33x10-15). In addition, we observed a promising association at 2p23.3 (rs6746082, OR=1.29; P=1.22x10-7). Our study reports previously unidentified genomic regions associated with MM risk that may lead to new etiological insights. FULL TEXT: [INTRO] Multiple myeloma (MM) is a malignancy of plasma cells primarily located within the bone marrow. In the US ~16,000 individuals are diagnosed each year with MM and ~11,000 die of the disease. Monoclonal gammopathy of undetermined significance (MGUS; a pre-malignant c

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