Possible association between genetic polymorphisms in transforming growth factor β receptors, serum transforming growth factor β1 concentration and abdominal aortic aneurysm

Background: Previous studies have suggested a role for transforming growth factor (TGF) β and its receptor in thoracic aortic aneurysm, but their role in abdominal aortic aneurysm (AAA) is unknown. This study examined the possible association between TGF-β receptor 1 and 2 (TGFBR-1 and -2) single nucleotide polymorphisms (SNPs) and serum TGF-β1 with AAA. Methods: Serum concentrations of TGF-β1 and 58 SNPs for TGFBR-1 and -2 were examined in 1003 and 1711 men respectively from the Health In Men Study. Validation of SNPs was examined in a second referral cohort of 1043 subjects from New Zealand, of whom 654 had an AAA. Results: Serum TGF-β1 was not associated with AAA. Only one SNP in TGFBR-2 was weakly associated with AAA; TGFBR2 g.42917C > T, SNP ID rs1078985CC; odds ratio 0·64 (95 per cent confidence interval (c.i.) 0·45 to 0·93); P = 0·020 uncorrected; but this association did not hold after adjusting for multiple testing and was not validated in the New Zealand cohort: odds ratio 0·98 (95 per cent c.i. 0·50 to 1·94); P = 0·960. Conclusion: These findings suggest there is no important role of genetic polymorphisms in the main receptors for TGF-β and circulating TGF-β1 in AAA in older individuals