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Jianhuan Chen, Haoyu Chen, Weiqi Chen, Mingzhi Zhang, Chi Pui Pang; Association of PTX3 polymorphisms with age-related macular degeneration and polypoidal choroidal vasculopathy. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6167.
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Long pentraxin-3 (PTX3) is a key modulator of complement factor H, an associated gene in exudative age-related macular degeneration (AMD). We investigated the association of PTX3 with AMD and its subtypes, typical AMD (tAMD) and polypoidal choroidal vasculopathy (PCV).
A total of 568 unrelated subjects were recruited at Shantou, China, including 346 controls and 222 AMD patients. Five tag single nucleotide polymorphisms (SNPs) of PTX3 including rs9289983, rs2305619, rs1840680, rs3845978, and rs4680367 were genotyped using Taqman assays. Disease association was analyzed by logistic regression controlled for sex and age.
Association with AMD was implicated in the SNP rs1840680 in the recessive model (odds ratio [OR] = 1.75, P = 0.047). Further subtype analysis revealed that enrichment of the rs1840680 AA genotype was significant in PCV (OR = 2.40, P = 0.017) but not in tAMD (OR = 1.39, P = 0.341). Furthermore, rs9289983-rs3845978 haplotypes were associated with AMD (P = 0.001), and with its subtypes, tAMD and PCV (P = 0.037 and 8.4*10-4 respectively). Notably the A-T haplotype conferred high disease risk (AMD: OR = 12.34, P = 0.004; tAMD: OR = 10.99, P = 0.003; PCV: OR = 19.67, P = 0.008). In accord with this, a decay of linkage disequilibrium in the PTX3 genomic region was found in AMD and the two subtypes when compared to controls.
In the current study PTX3 polymorphisms was associated with AMD and its two subtypes, with larger contribution to PCV than to tAMD.
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