Association of Elastin Gene Polymorphism to Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy
Association of Elastin Gene Polymorphism to Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy
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DOI：
10.1167/iovs.11-8205
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发表时间：
2011-11-01
影响因子：
4.4
通讯作者：
Yoshimura, Nagahisa
中科院分区：
文献类型：
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作者：
Yamashiro, Kenji;Mori, Keisuke;Yoshimura, Nagahisa
目的.目的探讨日本人弹性蛋白基因（ELN）多态性与新生血管性年龄相关性黄斑变性（AMD）及其亚型、典型AMD（tAMD）和息肉状脉络膜血管病变（PCV）之间是否存在关联。作者在京都大学和琦玉医科大学对5种单核苷酸多态性（SNP）rs 2301995、rs 2856728、rs 868005、rs 884843和rs 13239907进行了基因分型。对1296例AMD患者和478例对照进行了病例对照研究。在rs 2301995 SNP与AMD之间检测到统计学显著关联（P = 0.018）。此外，亚型分析显示rs 2301995与tAMD显著相关（P = 0.0018），但与PCV无关。rs 2301995的基因型分布在tAMD和PCV之间也存在显著差异（P = 0.00030）。在京都和琦玉研究中，rs 2301995基因型分布趋势相似。A等位基因频率在tAMD中较高，而在PCV和对照中相似，这与先前研究中报道的A等位基因频率在PCV中较高，而在tAMD和对照中相似相反。单倍型分析也显示ELN基因多态性与tAMD显著相关（P = 0.0055），而与PCV无关。ELN在日本与AMD相关。ELN是tAMD的易感基因，而不是PCV的易感基因，这与以前的研究结果相反，即ELN是PCV的易感基因，而不是tAMD的易感基因。（Invest Ophthalmol维斯科学。2011;52：8780-8784）DOI：10.1167/iovs.11-8205
PURPOSE. To see if there is an association in Japanese between elastin gene (ELN) polymorphisms and neovascular age-related macular degeneration (AMD) or its subtypes, typical AMD (tAMD) and polypoidal choroidal vasculopathy (PCV).METHODS. The authors genotyped five single nucleotide polymorphisms (SNPs), rs2301995, rs2856728, rs868005, rs884843, and rs13239907, at Kyoto University and Saitama Medical University. A case-control study was performed on 1296 patients with AMD and 478 controls.RESULTS. A statistically significant association was detected between the rs2301995 SNP and AMD (P = 0.018). Furthermore, subtype analysis revealed a significant association of rs2301995 with tAMD (P = 0.0018), but not with PCV. The genotype distribution of rs2301995 also differed significantly between tAMD and PCV (P = 0.00030). The trend in genotype distribution of rs2301995 was similar between the Kyoto and the Saitama studies. The A allele frequency was higher in tAMD, whereas it was similar in PCV and in controls, which is opposite to that reported in a previous study that the A allele frequency is higher in PCV, whereas it is similar in tAMD and in controls. Haplotype analysis also showed that the ELN polymorphism is significantly associated with tAMD (P = 0.0055), but not with PCV.CONCLUSIONS. ELN is associated with AMD in Japanese. Furthermore, the findings suggest that ELN is a susceptibility gene for tAMD but not for PCV, which is opposite to that reported in a previous study that ELN is the susceptibility gene for PCV but not for tAMD. (Invest Ophthalmol Vis Sci. 2011;52:8780-8784) DOI:10.1167/iovs.11-8205