a non-synonymous coding change in the cyp19a1 gene arg264cys (rs700519) does not affect circulating estradiol, bone structure or fracture非同义cyp19a1编码改变基因arg264cys(rs700519)不影响循环雌二醇、骨结构或骨折.pdfVIP

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a non-synonymous coding change in the cyp19a1 gene arg264cys (rs700519) does not affect circulating estradiol, bone structure or fracture非同义cyp19a1编码改变基因arg264cys(rs700519)不影响循环雌二醇、骨结构或骨折.pdf

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a non-synonymous coding change in the cyp19a1 gene arg264cys (rs700519) does not affect circulating estradiol, bone structure or fracture非同义cyp19a1编码改变基因arg264cys(rs700519)不影响循环雌二醇、骨结构或骨折

Wang et al. BMC Medical Genetics 2011, 12:165 /1471-2350/12/165 RESEARCH ARTICLE Open Access A non-synonymous coding change in the CYP19A1 gene Arg264Cys (rs700519) does not affect circulating estradiol, bone structure or fracture 1* 3 1,2 2 2 1 Jenny Z Wang , Mandeep S Deogan , Joshua R Lewis , Shelby Chew , Ben H Mullin , Tegan J McNab , Scott G Wilson1,2, Evan Ingley4 and Richard L Prince1,2 Abstract Background: The biosynthesis of estrogens from androgens is catalyzed by aromatase P450 enzyme, coded by the CYP19A1 gene on chromosome 15q21.2. Genetic variation within the CYP19A1 gene sequence has been shown to alter the function of the enzyme. The aim of this study is to investigate whether a non-synonymous Arg264Cys (rs700519) single nucleotide polymorphism (SNP) is associated with altered levels of circulating estradiol, areal bone mineral density or fracture. Methods: This population- based study of 1,022 elderly Caucasian women (mean age 74.95 ± 2.60 years) was genotyped for the rs700519 SNP were analyzed to detect any association with endocrine and bone phenotypes. Results: The genotype frequencies were 997 wildtype (97.6%), 24 heterozygous (2.3%) and 1 homozygous (0.1%). When individuals were grouped by genotype, there was no association between the polymorphism and serum estradiol (wildtype 27.5 ± 16.0; variants 31.2 ± 18.4, P = 0.27). There was also no association seen on hip bone mineral density (wildtype 0.81 ± 0.12; 0.84 ± 0.14 for variants, P = 0.48) or femoral neck bone mineral density (0.69 ± 0.10 for wildtype; 0.70 ± 0.12 for variants, P = 0.54) before or after correction of the data with age, height, weight and calcium therapy. There were also no associations with qu