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Association between SNP and haplotypes in PPARGC1 and adiponectin genes and bone mineral density in Chinese nuclear families

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Acta Pharmacologica Sinica 2007年第2期28卷 287-295页

作者： Zhen-lin ZHANG~2 Jin-wei HE Yue-juan QIN Yun-qiu HU Miao LI Yu-juan LIU Hao ZHANG Wei-wei HU Department of Osteoporosis,Osteoporosis Research Unit,Affiliated Sixth People’s Hospital,Shanghai Jiaa Tong University,Shangha 200233.China Department of Osteoporosis Osteoporosis Research Unit Affiliated Sixth People's Hospital Shanghai Jiao Tong University Shanghai China

Aim:To assess the contribution of single nucleotide polymorphisms(SNP)andhaplotypes in the peroxisome proliferator-activated receptor-y co-activator-1(PPARGC1)and adiponectin genes to normal bone mineral density(BMD)varia-tion in healthy Chinese women and ***:We performed population-based(ANOVA)and family-based(quantitative trait locus transmission disequi-librium test)association studies of PPARGC 1 and adiponectin *** in the2 genes were *** was measured using dual-energy X-rayabsorptiometry in the lumbar spine and hip in 401 nuclear families with a total of1260 subjects,including 458 premenopausal women,20-40 years of age;401 post-menopausal women(mothers),43-74 years of age;and 401 men(fathers),49-76years of ***:Significant within-family association was found betweenthe Thr394Thr polymorphism in the PPGAGC 1 gene and peak BMD in the femoralneck(P=0.026).Subsequent permutations were in agreement with this significantwithin-family association result(P=0.016),but Thr394Thr SNP only accounted for0.7% of the variation in femoral neck peak ***,no significant within-family association was detected between each SNP in the adiponectin gene andpeak *** no significant association was found between BMD andSNP in the PPARGCI and adiponectin genes in both men and postmenopausalwomen,haplotype 2(T-T)in the adiponectin gene was associated with lumbarspine BMD in postmenopausal women(P=0.019).Conclusion:Our findings sug-gest that Thr394Thr SNP in the PPARGC1 gene was associated with peak BMD inthe femoral neck in Chinese *** of our results is needed in otherpopulations and with more functional markers within and flanking the PPARGCIor adiponectin genes region.

关键词： bone mineral density peroxisome proliferator activated receptor-y coactivator-1 adiponectin polymorphism haplotypes

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