TNFRSF10A-LOC389641 rs13278062 But Not REST-C4orf14-POLR2B-IGFBP7 rs1713985 Was Found Associated With Age-Related Macular Degeneration in a Chinese Population

PURPOSE. To reassess the association between TNFRSF10-LOC389641 rs13278062 and REST-C4orf14-POLR2B-IGFBP7 rs1713985 with the risk of AMD in a Chinese case-control collection. METHODS. The primary study consisted of 1826 subjects, including 1226 controls, 300 cases with nAMD, and 300 cases with PCV. Genomic DNA was extracted from venous blood leukocytes. The allelic variants of rs13278062 and rs1713985 were determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. The difference in allele distribution between cases and controls was tested using a chi(2) test. We also performed a meta-analysis of case-control studies for rs13278062 and rs1713985 in Hong Kong and Singaporean late AMD collections of Chinese descent (1273 cases and 1652 controls) via an inverse-variance, fixed effects model as previously described. Subgroup analysis of CNV and PCV subtypes were also performed. RESULTS. We found no evidence to support a significant association of markers rs13278062 or rs1713985 with either nAMD or PCV, or total AMD in our Beijing study (P > 0.05 for all comparisons). Upon meta-analysis of all sample collections, we note nominally significant association between rs13278062 and increased risk of late AMD, consistent with previous findings in Japanese individuals (ORmeta = 1.17, Pmeta = 0.004). No association was detected between rs1713985 and AMD when all data were meta-analyzed. CONCLUSIONS. SNP rs13278062, but not rs1713985 showed nominal evidence of association with AMD in a total of 1273 cases and 1652 controls of Chinese descent. The difference between different effect sizes in our study and other studies suggested that future studies with much larger sample sizes is necessary.