| Background:Age-related macular degeneration(AMD)is one of the leading causes of blindness in aging populations.AMD can be divided into non-exudative AMD and wet AMD(wAMD).The wAMD can then be subdivided into choroidal neovascularization(CNV)and polypoidal choroidal vasculopathy(PCV).Because CNV and PCV share many similar pathological manifestations,doctors sometimes find it difficult to distinguish these two diseases.As a result,the exploration of the potential biomarkers to differentiate these two retinal disorders can provide insights for the clinical diagnosis.Objective:This study was conducted to investigate the genetic difference between CNV and PCV by comparing the associations of CNV and PCV with 6 single nucleotide polymorphisms(SNPs)on the 5 genes in chromosome 6p21.3 region,including rs541862(CFB),rs429608(SKIV2L),rs12153855(TNXB),rs9391734(FKBPL),rs2071277(NOTCH4),and rs3132946(NOTCH4).Methods:490 CNV cases,419 PCV cases and 1316 healthy controls were recruited.Venous blood was drawn,and genomic DNA was extracted.Six SNPs were genotyped by dye terminator-based SNaPshot method.Case-control association studies were conducted to analyze and compare the associations of the 6 SNPs with CNV and PCV.Results:TNXB rs12153855,FKBPL rs9391734 and SKIV2L rs429608 were significantly associated with CNV(P<0.05).Rs12153855 and rs9391734 conferred an increased susceptibility to CNV(P=2.8×10-4 and 0.001,OR=1.80 and 1.76,respectively),while rs429608 exerted a protective effect on CNV(P=2.2×10-4,OR=0.49).The protective haplotypes AGCAGG and AATGAG exhibited significant association with CNV(permutation P<0.05).None of the SNPs in this region was associated with PCV(P>0.05).Conclusion:Rs12153855,rs9391734 and rs429608 in the 6p21.3 region were associated with CNV but not with PCV,providing genetic evidence for the discrepancy between these two retinal disorders.These SNPs can be used as biomarkers to distinguish CNV and PCV in clinics. |
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