rs1160574 - KCNH1

Magnitude 2.2 · 1 study on file

Reported associations

• Genome-wide association study in East Asians suggests UHMK1 as a novel bone mineral density susceptibility gene. - Bone (2017) · Choi HJ, Park H, Zhang L, Kim JH, Kim YA, Yang JY, Pei YF, Tian Q, Shen H, Hwang JY, Deng HW, Cho NH, Shin CS · PubMed 27424934

  To identify genetic variants that influence bone mineral density (BMD) in East Asians, we performed a quantitative trait analysis of lumbar spine, total hip and femoral neck BMD in a Korean population-based cohort (N=2729) and follow-up replication analysis in a Chinese Han population and two Caucasian populations (N=1547, 2250 and 987, respectively). From the meta-analysis of the stage 1 discovery analysis and stage 2 replication analysis, we identified four BMD loci that reached near-genome-wide significance level (P<5×10(-7)). One locus on 1q23 (UHMK1, rs16863247, P=4.1×10(-7) for femoral neck BMD and P=3.2×10(-6) for total hip BMD) was a novel BMD signal. Interestingly, rs16863247 was very rare in Caucasians (minor allele frequency<0.01), indicating that this association could be sp

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