Abstract
Estrogen receptor alpha (ER-α) 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-α gene and BMI. Our study does not support an association of the ER-α gene with BMD and BMI in the Chinese population.
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Acknowledgements
This study was partially supported by grants from the Honorary Specially Invited Professor Start-up Fund of Hunan Province (25000612), an Outstanding Young Scientist Grant from the National Science Foundation of China (NSFC) (30025025), general (30170504) and key project (30230210) grants from NSFC, a Seed Fund from the Ministry of Education of China (25000106). Hong-Wen Deng and Ji-Rong Long were partially supported by grants from the United States Health Future Foundation, and National Institute of Health (K01 AR02170-01, R01 GM60402-01 A1), grants from the State of Nebraska Cancer and Smoking Related Disease Research Program (LB595), the State of Nebraska Tobacco Settlement Fund (LB692), and the US Department of Energy (DE-FG03-00ER63000/A00).
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Jian, WX., Yang, YJ., Long, JR. et al. Estrogen receptor α gene relationship with peak bone mass and body mass index in Chinese nuclear families. J Hum Genet 50, 477–482 (2005). https://doi.org/10.1007/s10038-005-0281-5
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DOI: https://doi.org/10.1007/s10038-005-0281-5
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