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

Golledge, Jonathan, Biros, Erik, Warrington, Nicole, Jones, Gregory, Cooper, Matthew, Van Rij, Andre, Palmer, Lyle, and Norman, Paul (2010) A Population-based study of polymorphisms in genes related to sex hormones and abdominal aortic aneurysm. In: Journal of Vascular Surgery (51) RR11. 92S-92S. From: Vascular Annual Meeting of the Society for Vascular Surgery, 10-13 June 2010, Boston, MA, USA.

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Objectives: Male gender and family history are important risk factor for abdominal aortic aneurysm (AAA). We hypothesised that genes involved in sex hormones production and action might be important in aortic dilatation. We investigated the association of aortic diameter with single nucleotide polymorphisms (SNPs) in genes determining circulating sex hormones and their action.

Methods: We genotyped 74 tagging SNPs across 4 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 (mean diameter 36.1 ± 6.7mm). Associations were assessed adjusting for other risk factors for AAA, including age, smoking, coronary heart disease, hypertension, dyslipidemia and diabetes.

Results: One SNP in CYP19A1 was strongly associated with aortic diameter. Subjects who had the rare homozygote genotype (TT) for CYP19A1 g.49412370C>T (SNP ID rs1961177), had increased aortic diameter (coefficient 4.872, standard error 1.394, p = 0.0004, under a recessive model adjusting for other risk factors). Four haplotypes in CYP19A1 were demonstrated to be significantly associated with aortic diameter, after adjusting for other risk factors and multiple testing. In particular the relative common haplotype CTT defined by the g.49386747C>G (SNP ID rs17523922), g.49394252C>T (SNP ID rs3751591), and g.49412370C>T (SNP ID rs1961177) which was present in 10% of men, p = 0.0001.

Conclusions: Our findings support an association between one SNP in CYP19A1 and aortic diameter which warrants validation in other cohorts.

Item ID: 25041
Item Type: Conference Item (Abstract / Summary)
ISSN: 1097-6809
Date Deposited: 20 Feb 2013 09:20
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%
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