激光生物学报2012，Vol.21Issue(4)：365-369,5.DOI:10.3969/j.issn.1007-7146.2012.04.014
PHACTR3基因与中国汉族和美国高加索人群骨密度的关联研究
Genetic Variants in the PHACTR3 Gene are Associated with Bone Mineral Density in both Chinese and Caucasian Populations
摘要
Abstract
Our previous genome-wide association study detected that PHACTR3 gene was associated with hip fracture. To investigate the relationship between SNPs within and near the PHACTR3 gene and BMD (bone mineral density) at both hip and spine, a fine-mapping association analysis was performed. A total of 140 SNPs were tested in a US Caucasian population (2,286 unrelated subjects) and a Chinese population (1 ,627 unrelated Han subjects). Plink software was used to test association of PHACTR3 genes with spine and hip bone mineral density, Our study confirmed that two SNPs (rsl555364 and rs6064822) that were previously reported to be associated with hip fracture were also associated with spine and hip BMD, with P values ranging from 4. 89 x 10"2 to 1. 26 x 10 . Besides the two SNPs, we identified another three SNPs( rs6027138 ,rsl182531 , rsl182532) associated with Chinese and Caucasians spine and hip BMD, with meta-analysis P value ranging from 1. 40 ×10-3 to 4. 00 × 10-4. We also found that rs 6064820 was associated with hip BMD( meta-analysis P = 6. 70 ×10-3 ) . This study further highlighted the importance of PHACTR3 gene influencing bone mineral density variation and provided more information for the understanding of the moiecuiar genetic mechanism of osteoporosis.关键词
骨质疏松症/骨密度/PHACTR3基因/关联分析Key words
osteoporosis/ BMD/ PHACTR3/ association analysis分类
医药卫生引用本文复制引用
谭丽君,杨铁林,刘拥军,邓红文..PHACTR3基因与中国汉族和美国高加索人群骨密度的关联研究[J].激光生物学报,2012,21(4):365-369,5.基金项目
国家自然科学基金(30900810) （30900810）
国家自然科学基金委员会(NSFC)-加拿大卫生研究院(CIHR)健康研究合作计划项目(30811120436) （NSFC）
国家自然科学基金委员会和香港研究资助局(RGC)联合资助基金项目(30731160618) （RGC）
NIH(P50AR055081,R01AG026564,R01AR050496,RC2DE020756, R0iAR057049,R03TW008221) （P50AR055081,R01AG026564,R01AR050496,RC2DE020756, R0iAR057049,R03TW008221）
FrankinD.Dickson/Missouri资助项目 （）
