Estrogen receptor alpha gene relationship with peak bone mass and body mass index in Chinese nuclear families.

Jian WX, Yang YJ, Long JR, Li YN, Deng FY, Jiang DK, Deng HW
J Hum Genet. 2005 50 (9): 477-82

PMID: 16160748 · DOI:10.1007/s10038-005-0281-5

Estrogen receptor alpha (ER-alpha) plays an important role in mediating estrogen signaling. Studies in Caucasian populations have shown that it is involved in endocrine-related diseases such as osteoporosis and obesity. In the present study, we first used a quantitative transmission disequilibrium test (QTDT) to examine the relationship between this gene and both the osteoporosis-related phenotype bone mineral density (BMD), and the obesity-related phenotype body mass index (BMI), in 384 Chinese nuclear families. We genotyped a dinucleotide repeat marker (TA)n, and a long-range haplotype was reconstructed using this marker and two other restriction fragment length polymorphism (RFLP) markers at PvuII and XbaI loci. Although we found significant total association [allele (TA)21 with hip BMD (P=0.001), and haplotype Px(TA)21 with spine (P=0.0007) and hip (P=0.0006) BMD], the more reliable within-family associations were not significant between these phenotype pairs. No linkage signal was obtained for either spine BMD or hip BMD. We found no association or linkage between any of the three studied polymorphisms and the long-range haplotypes of the ER-alpha gene and BMI. Our study does not support an association of the ER-alpha gene with BMD and BMI in the Chinese population.

MeSH Terms (12)

Absorptiometry, Photon Asian Continental Ancestry Group Body Mass Index Bone Density DNA Primers Estrogen Receptor alpha Genetic Markers Genotype Haplotypes Humans Likelihood Functions Polymorphism, Restriction Fragment Length

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