title: Estrogen receptor alpha gene relationship with peak bone mass and body mass index in Chinese nuclear families.
abstract: 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.
authors.affiliation: Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, 410081, Changsha, Hunan, P.R. China.|Shanghai Institute of Endocrinology, Ruijin Hospital, Shanghai Second Medical University, 200025, Shanghai, P.R. China.
authors.forename: Wei-Xia
authors.initials: WX
authors.lastname: Jian
authors.affiliation: Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, 410081, Changsha, Hunan, P.R. China.
authors.forename: Yan-Jun
authors.initials: YJ
authors.lastname: Yang
authors.affiliation: Osteoporosis Research Center and Department of Biomedical sciences, Creighton University, 601 N. 30th St., Suite 6787, Omaha, NE, 68131, USA.
authors.forename: Ji-Rong
authors.initials: JR
authors.lastname: Long
authors.affiliation: Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, 410081, Changsha, Hunan, P.R. China.
authors.forename: Yuan-Neng
authors.initials: YN
authors.lastname: Li
authors.affiliation: Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, 410081, Changsha, Hunan, P.R. China.
authors.forename: Fei-Yan
authors.initials: FY
authors.lastname: Deng
authors.affiliation: Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, 410081, Changsha, Hunan, P.R. China.
authors.forename: De-Ke
authors.initials: DK
authors.lastname: Jiang
authors.affiliation: Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, 410081, Changsha, Hunan, P.R. China. hwdeng@hunnu.edu.cn.|Osteoporosis Research Center and Department of Biomedical sciences, Creighton University, 601 N. 30th St., Suite 6787, Omaha, NE, 68131, USA. hwdeng@hunnu.edu.cn.|The Key Laboratory of Biomedical Information Engineering of Ministry of Education and Institute of Molecular Genetics, Xi'an Jiaotong University, 710049, Xi'an, P.R. China. hwdeng@hunnu.edu.cn.
authors.forename: Hong-Wen
authors.initials: HW
authors.lastname: Deng
mesh_terms: D015502:Absorptiometry, Photon; D044466:Asian People / Q000235:genetics; D015992:Body Mass Index; D015519:Bone Density / Q000235:genetics*; D017931:DNA Primers; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D016013:Likelihood Functions; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D017931:DNA Primers; D047628:Estrogen Receptor alpha; D005819:Genetic Markers