弹性蛋白rs2301995多态性与白种人中的息肉状脉络膜血管病变无关。
Elastin rs2301995 polymorphism is not associated with polypoidal choroidal vasculopathy in caucasians.
作者信息
Lima Luiz H, Merriam Joanna E, Freund K Bailey, Barbazetto Irene A, Spaide Richard F, Yannuzzi Lawrence A, Allikmets Rando
机构信息
Vitreous, Retina, Macula Consultants of New York and the LuEsther T. Mertz Retina Research Center, Manhattan Eye, Ear, and Throat Hospital, New York, USA.
出版信息
Ophthalmic Genet. 2011 Jun;32(2):80-2. doi: 10.3109/13816810.2010.544362. Epub 2011 Mar 10.
PURPOSE
To investigate the association of the rs2301995 haplotype-tagging single nucleotide polymorphism (htSNP) in the elastin gene (ELN) with polypoidal choroidal vasculopathy (PCV) in European-American patients.
METHODS
Association analysis of allele and genotype frequencies, determined by TaqMan assays, was performed for the rs2301995 haplotype-tagging single nucleotide polymorphism (htSNP) in the ELN locus in fifty-six patients with PCV, 368 patients with advanced age-related macular degeneration (AMD) and 368 age- and ethnically-matched unaffected controls.
RESULTS
The ELN rs2301995 SNP was not statistically significantly associated with the PCV phenotype (P = 0.9). The frequency of the minor allele of the rs2301995 SNP was practically identical in the PCV, AMD and control groups (6.3% vs. 5.4% vs. 7.1%).
CONCLUSION
The PCV phenotype in European-American patients is not associated with rs2301995 SNP in the ELN locus.
目的
研究欧美患者中弹性蛋白基因（ELN）的rs2301995单倍型标签单核苷酸多态性（htSNP）与息肉状脉络膜血管病变（PCV）的相关性。
方法
采用TaqMan检测法对56例PCV患者、368例晚期年龄相关性黄斑变性（AMD）患者及368例年龄和种族匹配的未受影响对照者的ELN基因座中的rs2301995单倍型标签单核苷酸多态性（htSNP）进行等位基因和基因型频率的关联分析。
结果
ELN rs2301995单核苷酸多态性与PCV表型无统计学显著相关性（P = 0.9）。rs2301995单核苷酸多态性的次要等位基因频率在PCV组、AMD组和对照组中几乎相同（分别为6.3%、5.4%和7.1%）。
结论
欧美患者的PCV表型与ELN基因座中的rs2301995单核苷酸多态性无关。
Zotero 插件