Abstract
BackgroundAge-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.MethodsA 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.ResultsThe 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.ConclusionsThe effects of 39 SNPs have found no associations with the morbidity of AMD in Chinese Tujia ethnic minority group.
Highlights
Age-related macular degeneration (AMD) can cause vision loss or blindness in elderly
Genome-wide association study had been used to clarify the possible relationships between single nucleotide polymorphism (SNP) and outcomes of anti- vascular endothelial growth factor (VEGF) treatment for exudative AMD and the results showed that the age-related maculopathy susceptibility 2 (ARMS2/HTRA1) polymorphism rs10490924 might be a good marker to predict the effect of ranibizumab treatment [8]
Previous studies conducted by Chinese epidemiologists reported that gene variants in CFH, ARMS2 and HTRA1 were related to an increased risk of AMD in a northern Chinese population, which was partially consistent with the results of the western world [10, 11]
Summary
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. Age-related macular degeneration (AMD) is the main cause of blindness and vision loss in old people in developed countries [1]. The development of the disease is a complex interplay of age, environmental, genetic, metabolic and many other factors [3]. The Chinese Tujia ethnic minority group mainly live on th mountains in the middle of China. The genetic analysis of Y chromosome in Chinese Tujia ethnic minority group demonstrated that the 17 Y-STR loci were highly polymorphic [9]. The epidemiology analysis of AMD in Chinese Tujia ethnic minority group and its potential pathogenic mechanism had not been reported
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