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). pp. 363-366.

PDF (Accepted Version) - Accepted Version
Download (98kB)
[img] PDF (Published Version) - Published Version
Restricted to Repository staff only

View at Publisher Website: http://dx.doi.org/10.1038/ejhg.2010.182


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.49412370C>T (SNP ID rs1961177), had an increased aortic diameter (coefficient 5.058, SE 1.394, P=0.0003, 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.

Item ID: 16868
Item Type: Article (Research - C1)
ISSN: 1476-5438
Keywords: aorta; aneurysm; sex hormones
Date Deposited: 06 Jul 2011 00:44
FoR Codes: 11 MEDICAL AND HEALTH SCIENCES > 1102 Cardiovascular Medicine and Haematology > 110201 Cardiology (incl Cardiovascular Diseases) @ 100%
SEO Codes: 92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920103 Cardiovascular System and Diseases @ 100%
Downloads: Total: 1257
Last 12 Months: 68
More Statistics

Actions (Repository Staff Only)

Item Control Page Item Control Page