Department of Ophthalmology, the Second Affiliated Hospital of Chongqing Medical University, NO.74, Linjiang Road, Yuzhong District, Chongqing, 400010, China.
Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, 400010, China.
BMC Med Genet. 2019 Jan 29;20(1):25. doi: 10.1186/s12881-019-0756-4.
Age-related macular degeneration (AMD) can cause vision loss or blindness in elderly. The associations between single nucleotide polymorphism (SNP) and AMD in Chinese Tujia ethnic minority group are still unclear.
A total of 2122 Tujia volunteers were recruited and 197 of them were diagnosed with AMD (either dry or wet type).Then the blood specimens of these 197 AMD patients and 404 controls from the remaining 1925 normal Tujia volunteers were collected to detect the frequencies of 39 chosen SNPs. The Bonferroni method was used to correct the P values from the Fisher's exact test.
The mean age of the 197 AMD patients(113 males and 84 females) was 68.4197 years old. No significant differences in allelic and genotypic frequencies were found for all the 39 SNPs between the patients and controls. However, weak correlations between 10 SNPs (CFH rs1329428 TT genotype, CFH rs3753394 CC genotype and T allele, CFH rs1410996 AA genotype, CFH rs800292 AA genotype, CFH rs800292 A allele, VEGF rs833061 TT genotype and C allele, VEGF rs2010963 CG genotype, VEGFR2 rs1531289 TT genotype, ARMS2 rs10490924 TT genotype, KCTD10 rs238104 GC genotype, rs1531289 T allele and ARMS2 rs10490924 T allele) and AMD were shown.
The effects of 39 SNPs have found no associations with the morbidity of AMD in Chinese Tujia ethnic minority group.
年龄相关性黄斑变性（AMD）可导致老年人视力丧失或失明。在中国土家族少数民族群体中，单核苷酸多态性（SNP）与 AMD 之间的关联尚不清楚。
共招募了 2122 名土家族志愿者，其中 197 名被诊断为 AMD（干性或湿性）。然后从其余 1925 名正常土家族志愿者中采集这 197 名 AMD 患者和 404 名对照者的血样，以检测 39 个选定 SNP 的频率。Fisher 精确检验的 P 值用 Bonferroni 方法校正。
197 名 AMD 患者（男性 113 名，女性 84 名）的平均年龄为 68.4197 岁。患者和对照组之间所有 39 个 SNP 的等位基因和基因型频率均无显着差异。然而，10 个 SNP（CFH rs1329428 TT 基因型、CFH rs3753394 CC 基因型和 T 等位基因、CFH rs1410996 AA 基因型、CFH rs800292 AA 基因型、CFH rs800292 A 等位基因、VEGF rs833061 TT 基因型和 C 等位基因、VEGF rs2010963 CG 基因型、VEGFR2 rs1531289 TT 基因型、ARMS2 rs10490924 TT 基因型、KCTD10 rs238104 GC 基因型、rs1531289 T 等位基因和 ARMS2 rs10490924 T 等位基因）与 AMD 之间存在弱相关性。
39 个 SNP 的影响与中国土家族少数民族群体 AMD 的发病率无关联。
