Correlations of the CFI gene polymorphisms with age-related macular degeneration in Han Chinese population / 实用医学杂志

ABSTRACT

Objective To study the correlation of 5 polymorphisms of Han Chinese patients in Sichuan Province with age-related macular degeneration (AMD). Methods The blood samples from 384 Han Chinese patients diagnosed with AMD and another 384 matched controls were collected using case-control study method. The chosen gene single nucleotide polymorphisms (SNPs) were genotyped by SnaPShot classify technology in the patients with AMD and 384 controls of Chinese Han population. Results All of the 5 genetype frequencies of the SNPs were in accordance with Hardy-Weinberg Equilibrium (P > 0.05). There were no statistically significantdifferences between the AMD group and the control group in the rs13117504 G allele frequency (P = 0.037, OR=1.24, 95%CI1.01~1.53), the rs10033900 C allele frequency (P=0.023, OR=1.27, 95%CI 1.03 ~1.57) and the rs1003390 frequency in the AMD dominant model (P = 0.039, OR = 0.74, 95%CI 0.55 ~ 0.99). There were no statistically significant differences between the groups in the rs6822976 A allele frequencies (P =0.158), the rs7438961 G allele frequencies (P = 0.798) and, the rs7671905 T allele frequency (P = 0.909). The rs10033900 in the recessive model of AMD had no significant difference as compared to that in the control group (P = 0.107). The two groups showed no significant differences in both the dominant and recessive model of AMD in terms of the frequencies of rs13117504, rs6822976, rs7438961 and rs7671905 (P > 0.05). Conclusion The rs13117504 and rs10033900 of SNPs near CFI gene upstream has significant association with age-related macular degeneration , while the rs6822976 , rs7438961 , rs7671905 of SNPs have no significant correlations with age-related macular degeneration in Han Chinese population.