Journal article
A non-synonymous coding change in the CYP19A1 gene Arg264Cys (rs700519) does not affect circulating estradiol, bone structure or fracture
BMC Medical Genetics, Vol.12, Article number: 165
2011
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 quantitative ultrasound measures of bone structure (broadband ultrasound attenuation, speed of sound and average stiffness).
Conclusions
In 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.
Details
- Title
- A non-synonymous coding change in the CYP19A1 gene Arg264Cys (rs700519) does not affect circulating estradiol, bone structure or fracture
- Authors/Creators
- J.Z. Wang (Author/Creator) - The University of Western AustraliaM.S. Deogan (Author/Creator) - Murdoch UniversityJ.R. Lewis (Author/Creator) - Sir Charles Gairdner HospitalS. Chew (Author/Creator) - Sir Charles Gairdner HospitalB.H. Mullin (Author/Creator) - Sir Charles Gairdner HospitalT.J. McNab (Author/Creator) - The University of Western AustraliaS.G. Wilson (Author/Creator) - Sir Charles Gairdner HospitalE. Ingley (Author/Creator) - The University of Western AustraliaR.L. Prince (Author/Creator) - Sir Charles Gairdner Hospital
- Publication Details
- BMC Medical Genetics, Vol.12, Article number: 165
- Publisher
- BioMed Central
- Identifiers
- 991005541910807891
- Copyright
- ©2011 Wang et al
- Murdoch Affiliation
- School of Biological Sciences and Biotechnology
- Language
- English
- Resource Type
- Journal article
- Note
- This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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- Citation topics
- 1 Clinical & Life Sciences
- 1.141 Hormone Therapy
- 1.141.244 Estrogen Receptors
- Web Of Science research areas
- Genetics & Heredity
- ESI research areas
- Molecular Biology & Genetics