Abstract
BackgroundThe 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.MethodsThis 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.ResultsThe 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 quantitative ultrasound measures of bone structure (broadband ultrasound attenuation, speed of sound and average stiffness).ConclusionsIn a cohort of 1,022 elderly Western Australian women, the presence of Arg264Cys (rs700519) polymorphism was not found to be associated with serum estradiol, bone structure or phenotypes.
Highlights
The biosynthesis of estrogens from androgens is catalyzed by aromatase P450 enzyme, coded by the CYP19A1 gene on chromosome 15q21.2
Subjects The rs700519 single nucleotide polymorphism (SNP) was genotyped in 1,022 individuals who participated in the Calcium Intake Fracture Outcome Study (CAIFOS), a 5-year randomised controlled trial looking into the effects of calcium supplementation in prevention of osteoporotic fractures [9]
For bone phenotypes there were no associations between areal bone mineral density (aBMD) before and after adjusted for age, height, weight and calcium therapy both for total hip and femoral neck sites or ultrasound bone phenotypes including broadband ultrasound attenuation (BUA), SOS and average stiffness
Summary
The biosynthesis of estrogens from androgens is catalyzed by aromatase P450 enzyme, coded by the CYP19A1 gene on chromosome 15q21.2. 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. As measured by dual energy-x-ray absorptiometry (DXA) areal bone mineral density (aBMD) is a phenotype dependent on circulating estradiol in postmenopausal women [1]. Associations between the sequence variant rs700519 (Arg264Cys) in exon 7 of the CYP19A1 gene, estradiol and bone phenotypes were examined
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