Correlation betwe en single nucleotide polymorphism in FBN-1 gene (rs2118181) and sporadic acute aortic syndrome in Chinese Han population / 中国介入心脏病学杂志

ABSTRACT

Objective To investigate the association of the rs 2118181 polymorphism of FBN-1 gene ( encoding Fibrillin-1 ) and the risk of acute aortic syndrome ( AAS ) in Chinese Han population. Methods Genomic DNA was extracted from the blood of 206 patients suffering AAS and 209 individual-matched controls.The dideoxy chain termination method was used to determine the genotypes of rs 2118181 single nucleotide polymorphisms .Results The TT frequency of rs 2118181 genotype was significantly higher in the patients with AAS , especially with Intramural Haematoma ( IMH ) than in the controls ( 62.1%, 70.4% vs.52.5%, P<0.05).Carriers of CT or CC genotype had a less risk for AAS , especially for IMH, compared with carriers of TT genotype.The odds ratio were 0.66 (95%CI0.45-0.98, P=0.040) and 0.46 (95%CI0.24-0.87, P=0.016) respectively.After adjusting for age, sex, body mass index, hypertension , body mass index , smoking , diabetes mellitus , the odds ratio for AAS was 0.66 ( 95% CI0.44-0.99 , P=0.048 ) .However , there was no significant difference on the frequencies of rs 2118181 genotype between the two subgroups of classical aortic dissection and intramural haematoma . Conclusions The rs2118181 polymorphism of FBN-1 gene is correlated to the sporadic AAS , especially to IMH, in Chinese Han population .The carriers of TT genotype are vulnerable to AAS , especially to IMH , compared with the non-carriers.