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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 men.Methods:We performed population-based(ANOVA)and family-based(quantitative trait locus transmission disequi-librium test)association studies of PPARGC 1 and adiponectin genes.SNP in the2 genes were genotyped.BMD 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 age.Results: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 BMD.However,no significant within-family association was detected between each SNP in the adiponectin gene andpeak BMD.Although 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 women.Confirmation of our results is needed in otherpopulations and with more functional markers within and flanking the PPARGCIor adiponectin genes region.
Aim: To assess the contribution of single nucleotide polymorphisms (SNP) and haplotypes 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 men.Methods: We performed population-based (ANOVA) and family-based (quantitative trait locus transmission disequilibrium test) association studies of PPARGC 1 and adiponectin genes. SNP in the2 genes were genotyped. MBD was measured using dual-energy X -rayabsorptiometry in the lumbar spine and hip in 401 nuclear families with a total of 1260 subjects, including 458 premenopausal women, 20-40 years of age; 401 post-menopausal women (mothers), 43-74 years of age; and 401 men ( fathers), 49-76 years of age. Results: 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 BMD. However, no significant within-family association was detected between each SNP in the adiponectin gene andpeak BMD. Although no significant association was found between BMD and SNP in the PPARGCI and adiponectin genes in both men and postmenopausal women, haplotype 2 (TT) 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 women. Confirmation of our results is needed in otherpopulations and with more functional markers within and flanking the PPARGCI adiponectin genes region.