rs10483809 - RAD51B

Magnitude 2.2 · 1 study on file

Reported associations

• Identification of novel loci affecting circulating chromogranins and related peptides. - Human molecular genetics (2017) · Benyamin B, Maihofer AX, Schork AJ, Hamilton BA, Rao F, Schmid-Schönbein GW, Zhang K, Mahata M, Stridsberg M, Schork NJ, Biswas N, Hook VY, Wei Z, Montgomery GW, Martin NG, Nievergelt CM, Whitfield JB, O'Connor DT · PubMed 28011710

  Chromogranins are pro-hormone secretory proteins released from neuroendocrine cells, with effects on control of blood pressure. We conducted a genome-wide association study for plasma catestatin, the catecholamine release inhibitory peptide derived from chromogranin A (CHGA), and other CHGA- or chromogranin B (CHGB)-related peptides, in 545 US and 1252 Australian subjects. This identified loci on chromosomes 4q35 and 5q34 affecting catestatin concentration (P = 3.40 × 10-30 for rs4253311 and 1.85 × 10-19 for rs2731672, respectively). Genes in these regions include the proteolytic enzymes kallikrein (KLKB1) and Factor XII (F12). In chromaffin cells, CHGA and KLKB1 proteins co-localized in catecholamine storage granules. In vitro, kallikrein cleaved recombinant human CHGA to catestat

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