A population-based study of polymorphisms in genes related to sex hormones and abdominal aortic aneurysm

Golledge, Jonathan, Biros,Erik, Warrington, Nicole, Jones, Gregory T., Cooper, Matthew, Van Rij, Andre M., Palmer, Lyle J. and Norman, Paul E. (2011) A population-based study of polymorphisms in genes related to sex hormones and abdominal aortic aneurysm. European Journal of Human Genetics, 19 3: 363-366. doi:10.1038/ejhg.2010.182

Author Golledge, Jonathan
Warrington, Nicole
Jones, Gregory T.
Cooper, Matthew
Van Rij, Andre M.
Palmer, Lyle J.
Norman, Paul E.
Title A population-based study of polymorphisms in genes related to sex hormones and abdominal aortic aneurysm
Journal name European Journal of Human Genetics   Check publisher's open access policy
ISSN 1018-4813
Publication date 2011-01-01
Year available 2011
Sub-type Article (original research)
DOI 10.1038/ejhg.2010.182
Volume 19
Issue 3
Start page 363
End page 366
Total pages 4
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Language eng
Subject 2716 Genetics (clinical)
1311 Genetics
Abstract Male gender and family history are risk factors for abdominal aortic aneurysm (AAA). We hypothesized that genes involved in sex hormones might be important in AAA. We investigated the association of aortic diameter with single-nucleotide polymorphisms (SNPs) in genes determining circulating sex hormones and their action. We genotyped 74 tagging SNPs across four genes (steroid 5α reductase, subfamily A, polypeptide 1 (SRD5A1), cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), androgen receptor (AR) and estrogen receptor 2 (ESR2)) related to sex hormone production and action in 1711 men, 640 of whom had an AAA. One genotype was also assessed in an independent cohort of 782 men, of whom 513 had large AAAs. Associations were assessed adjusting for other risk factors for AAA. One SNP in CYP19A1 was strongly associated with aortic diameter. Subjects who had the rare homozygote genotype (TT) for CYP19A1g.49412370CT (SNP ID rs1961177), had an increased aortic diameter (coefficient 5.058, SE 1.394, P0.0003, under a recessive model). This SNP was not associated with aortic diameter in an independent cohort, which included patients with larger AAAs. Our findings do not support an important role of genetic polymorphisms in genes determining sex hormones in aortic dilatation in men. The association of one SNP in CYPA9A1 with small but not large AAA may suggest differences between AAA formation and progression. This SNP warrants further investigation in another large population, including patients with small AAAs.
Keyword Aneurysm
Sex hormones
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: UQ Diamantina Institute Publications
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