Polymorphisms of COL4A1 gene are associated with arterial pulse wave velocity in healthy Han Chinese and Uygur subjects.

Pulse wave velocity (PWV) is a noninvasive index of arterial stiffness and an independent predictor of cardiovascular outcomes. Type IV collagen is an important structural component of the vascular basement membrane, thus it is important for the integrity and functions of basement membrane. However, the relationship between genetic polymorphisms of COL4A1 gene and PWV in healthy Han Chinese and Uygur subjects remains unclear. We aimed to investigate the association between PWV and COL4A1 genetic polymorphisms in healthy Han Chinese and Uygur subjects. A total of 1533 subjects (909 Han, 624 Uygur) were selected from the Cardiovascular Risk Survey (CRS) study. Two SNPs (rs605143 and rs565470) were genotyped by using the polymerase chain reaction-restriction fragment length (PCR-RFLP) method. In the Uygur population, the two SNPs (rs605143 and rs565470) were associated with PWV by analyses of a recessive model (p = 0.002, p = 0.008, respectively), and the difference remained significant after multivariate adjustment (p = 0.004, p = 0.001, respectively); the AA genotype of rs605143 was associated with increased PWV value compared with the AG or GG genotype (1543.36 ± 324.79 cm/s vs. 1530.45 ± 314.24 cm/s and 1522.93 ± 316.00 cm/s); and the CC genotype of rs565470 was associated with increased PWV value compared with the CT or TT genotype (1647.90 ± 553.27 cm/s vs. 1506.8 ± 357.35 cm/s and 1488.4 ± 344.32 cm/s). But for healthy Han Chinese subjects, this association was not observed in rs605143 and rs565470 before and after multivariate adjustment. Both rs605143 and rs565470 in the COL4A1 gene are associated with PWV in healthy Uygur subjects, indicating that carriers of the A allele of rs605143 and the C allele of rs565470 have a high risk of Arterial stiffness.