作者: Sung Hye Kong , Ji Won Yoon , Jung Hee Kim , JooYong Park , Jiyeob Choi
DOI: 10.3803/ENM.2020.735
关键词: Trabecular bone score 、 Oncology 、 Lumbar spine 、 Internal medicine 、 Genome-wide association study 、 Cohort 、 Bone mineral 、 Cohort study 、 Genetic association 、 Genetic variants 、 Medicine
摘要: Background As the genetic variants of trabecular bone microarchitecture are not well-understood, we performed a genome-wide association study to identify determinants analyzed by score (TBS). Methods TBS-associated genes were discovered in Ansung cohort (discovery cohort), community-based rural Korea, and then validated Gene-Environment Interaction Phenotype (GENIE) (validation consisting subjects who underwent health check-up programs. In discovery cohort, 2,451 participants investigated for 1.42 million genotyped imputed markers. Results validation identified as significant evaluated 2,733 participants. An intronic variant iroquois homeobox 3 (IRX3), rs1815994, was significantly associated with TBS men (P=3.74E-05 P=0.027 cohort). Another mitogen-activated protein kinase 5 (MAP2K5), rs11630730, women (P=3.05E-09 P=0.041 Men rs1815994 rs11630730 had lower lumbar spine mineral density. The detrimental effects also analysis (β=-0.0281, β=-0.0465, respectively). Conclusion this study, near IRX3 MAP2K5 deterioration microarchitecture. It is first determine TBS. Further studies needed confirm our findings additional contributing