rs1231207 - SMG6

Magnitude 2.2 · 1 study on file

Reported associations

• Meta-Analysis of Genome-Wide Association Studies Identifies Three Loci Associated With Stiffness Index of the Calcaneus. - Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (2020) · Lu HF, Hung KS, Chu HW, Wong HS, Kim J, Kim MK, Choi BY, Tai YT, Ikegawa S, Cho EC, Chang WC · PubMed 30779856

  The stiffness index (SI) from quantitative ultrasound measurements is a good indicator of BMD and may be used to predict the risk of osteoporotic fracture. We conducted a genomewide association study (GWAS) for SI using 7742 individuals from the Taiwan Biobank, followed by a replication study in a Korean population (n = 2955). Approximately 6.1 million SNPs were subjected to association analysis, and SI-associated variants were identified. We further conducted a meta-analysis of Taiwan Biobank significant SNPs with a Korean population-based cohort. Candidate genes were prioritized according to epigenetic annotations, gene ontology, protein-protein interaction, GWAS catalog, and expression quantitative trait loci analyses. Our results revealed seven significant single-nucleotide polymor

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