PMID- 24481879 OWN - NLM STAT- MEDLINE DCOM- 20150105 LR - 20211021 IS - 1573-4978 (Electronic) IS - 0301-4851 (Linking) VI - 41 IP - 5 DP - 2014 May TI - Association of ESR1 and C6orf97 gene polymorphism with osteoporosis in postmenopausal women. PG - 3235-43 LID - 10.1007/s11033-014-3186-6 [doi] AB - The estrogen receptor 1 (ESR1) and Chromosome 6 Open Reading Frame 97 (C6orf97) gene polymorphisms were earlier reported to be associated with osteoporosis in the European cohort. The aim of this study was to investigate the association of four single nucleotide polymorphisms (SNP) with bone mineral density (BMD), fracture, vertebral fracture, bone turnover or 25-hydroxyvitamin D [25(OH)D] in 1,753 randomly selected postmenopausal women in China. Vertebral fracture, BMD of lumbar spine (2-4), femoral neck and total hip were measured respectively. Serum N-terminal procollagen of type 1 collagen (P1NP), beta-isomerized type I collagen C-telopeptide breakdown products (beta-CTX) and 25(OH)D3 were also determined. Binary logistic regression revealed significant associations between fracture risk with rs1999805 (P=0.041, OR 1.633, 95%CI 1.020-2.616) and rs6929137 (P=0.005, OR 1.932, 95%CI 1.226-3.045) in recessive model. Significant association was also observed between vertebral fracture risk and rs1038304 (P=0.039, OR 0.549, 95%CI 0.311-0.969) in recessive model. Liner regression analyses showed that only the CC group of rs4870044 was significantly associated with total hip in dominant model (P=0.034). Our findings suggest that ESR1 and C6orf97 gene polymorphism is associated with fracture and vertebral fracture risk in Chinese postmenopausal women. FAU - Luo, Lianmei AU - Luo L AD - Department of Obstetrics and Gynecology & Beijing Tsinghua Chang Gung Hospital of Tsinghua University, Beijing, 102218, China. FAU - Xia, Weibo AU - Xia W FAU - Nie, Min AU - Nie M FAU - Sun, Yue AU - Sun Y FAU - Jiang, Yan AU - Jiang Y FAU - Zhao, Jing AU - Zhao J FAU - He, Shuli AU - He S FAU - Xu, Ling AU - Xu L LA - eng PT - Journal Article DEP - 20140131 PL - Netherlands TA - Mol Biol Rep JT - Molecular biology reports JID - 0403234 RN - 0 (ESR1 protein, human) RN - 0 (Estrogen Receptor alpha) SB - IM MH - Aged MH - Aged, 80 and over MH - Alleles MH - Chromosomes, Human, Pair 6 MH - Estrogen Receptor alpha/*genetics MH - Female MH - Gene Frequency MH - Genetic Association Studies MH - *Genetic Predisposition to Disease MH - Genotype MH - Haplotypes MH - Humans MH - Linkage Disequilibrium MH - Middle Aged MH - Osteoporosis, Postmenopausal/complications/*genetics MH - Osteoporotic Fractures/genetics MH - *Polymorphism, Genetic MH - Polymorphism, Single Nucleotide MH - Quantitative Trait Loci EDAT- 2014/02/01 06:00 MHDA- 2015/01/06 06:00 CRDT- 2014/02/01 06:00 PHST- 2013/12/19 00:00 [received] PHST- 2014/01/18 00:00 [accepted] PHST- 2014/02/01 06:00 [entrez] PHST- 2014/02/01 06:00 [pubmed] PHST- 2015/01/06 06:00 [medline] AID - 10.1007/s11033-014-3186-6 [doi] PST - ppublish SO - Mol Biol Rep. 2014 May;41(5):3235-43. doi: 10.1007/s11033-014-3186-6. Epub 2014 Jan 31.