印度人群中TCF4内含子多态性CTG18.1和rs17089887与富克斯内皮性角膜营养不良的遗传关联。
Genetic association of TCF4 intronic polymorphisms, CTG18.1 and rs17089887, with Fuchs' endothelial corneal dystrophy in an Indian population.
作者信息
Nanda Gargi Gouranga, Padhy Biswajit, Samal Sujata, Das Sujata, Alone Debasmita Pankaj
机构信息
School of Biological Sciences, National Institute of Science Education and Research, Bhubaneswar, India.
Cornea and Anterior Segment Services, L. V. Prasad Eye Institute, Bhubaneswar, India.
出版信息
Invest Ophthalmol Vis Sci. 2014 Oct 23;55(11):7674-80. doi: 10.1167/iovs.14-15297.
PURPOSE
To assess the genetic association of transcription factor 4 (TCF4) intronic polymorphisms and CTG18.1 allele in individuals with Fuchs' endothelial corneal dystrophy (FECD) individuals from a sample Indian population.
METHODS
Forty-four FECD patients and 108 unrelated age-matched controls were recruited with informed consent for this study. Three, single nucleotide polymorphisms (SNPs) spanning the third intronic region of TCF4 (rs613872, rs17089887, and rs17089925) and an unstable trinucleotide repeat CTG18.1 allele were genotyped by direct sequencing using Sanger's method. The association of polymorphisms was analyzed using χ(2) test and logistic regression.
RESULTS
SNP rs17089887 (P = 0.013) and CTG18.1 (P = 2 × 10(-4)) alleles were found to be significantly associated with FECD in the sample Indian population. However, the other two SNPs, rs613872 and rs17089925, were not likewise associated. Thirty-four percent of FECD subjects and 5% of control individuals harbor more than 50 trinucleotide repeats, which was considered as the disease threshold.
CONCLUSIONS
TCF4 poses a major contributor to FECD manifestation globally, with a significant association of rs17089887 and CTG18.1 allele in the Indian population.
目的
在一组印度样本人群中，评估转录因子4（TCF4）内含子多态性和CTG18.1等位基因与富克斯内皮性角膜营养不良（FECD）个体之间的遗传关联。
方法
本研究经知情同意招募了44例FECD患者和108例年龄匹配的无关对照。采用桑格法直接测序对跨越TCF4第三内含子区域的三个单核苷酸多态性（SNP，rs613872、rs17089887和rs17089925）以及一个不稳定的三核苷酸重复CTG18.1等位基因进行基因分型。使用χ²检验和逻辑回归分析多态性的关联性。
结果
在该印度样本人群中，发现SNP rs17089887（P = 0.013）和CTG18.1（P = 2×10⁻⁴）等位基因与FECD显著相关。然而，另外两个SNP，rs613872和rs17089925，未显示出类似的关联性。34%的FECD受试者和5%的对照个体携带超过50个三核苷酸重复序列，这被视为疾病阈值。
结论
在全球范围内，TCF4是FECD表现的主要促成因素，在印度人群中rs17089887和CTG18.1等位基因存在显著关联。
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