Association of NFE2L2 Gene Polymorphisms with Risk and Clinical Characteristics of Acute Type A Aortic Dissection in Han Chinese Population.

The present study is aimed at investigating the association of NFE2L2 gene polymorphisms with risk and clinical characteristics of acute type A aortic dissection (AAAD) in a Han Chinese population. Six SNPs (rs1806649, rs13001694, rs2364723, rs35652124, rs6721961, and rs2706110) in NFE2L2 were genotyped using SNaPshot Multiplex Kit in 94 adult patients diagnosed with AAAD at our hospital, and 208 healthy Han Chinese subjects from the 1000 Genomes Project were served as the control group. The CC genotype of rs2364723 (CC versus (GC+GG), OR = 2.069, 95% CI: 1.222-3.502, p = 0.006) and CC genotype of rs35652124 (CC versus (CT+TT), OR = 1.889, 95% CI: 1.112-3.210, p = 0.018) were identified as risk factors for AAAD. Multivariable linear regression analysis revealed that the CC genotype of rs2364723 (β = 5.031, 95% CI: 1.878-8.183, p = 0.002) and CC genotype of rs35652124 (β = 4.751, 95% CI: 1.544-7.958, p = 0.004) were associated with increased maximum ascending aorta diameter of AAAD. Patients carrying rs2364723 CC genotype had a higher incidence of coronary artery involvement (31% vs. 12%, p = 0.027), while patients carrying rs35652124 CC genotype had a higher incidence of brain ischemia (9% vs. 0%, p = 0.045). In conclusion, NFE2L2 gene polymorphisms were correlated with risk and severity of AAAD in Han Chinese population.