Association of a rare haplotype in Kinesin light chain 1 gene with age-related cataract in a han chinese population.
Association of a rare haplotype in Kinesin light chain 1 gene with age-related cataract in a han chinese population.
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驱动蛋白轻链 1 基因中的罕见单倍型与中国汉族人群中年龄相关性白内障的关联
DOI：
10.1371/journal.pone.0064052
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Zhao XZ
中科院分区：
文献类型：
--
作者：
Zhang L;Xu JW;Qu X;Liu DR;Liu P;Zhao XZ
先天性白内障的致病基因是年龄相关性白内障（ARC）遗传易感性的良好候选基因。本研究旨在探讨中国人群先天性白内障致病基因多态性与ARC之间的关系。同时，我们对先前确定的ARC危险基因进行了重复研究。在这项研究中，我们招募了212例散发性汉族年龄相关性白内障患者和172例正常对照。我们分析了中国人群中13个基因的31个snp，这些基因最有可能导致ARC的进展，其中包括212名白内障患者和172名对照组。使用多重聚合酶链反应（PCR）扩增多态性片段，并在MassARRAY平台上使用引物扩展法进行基因分型。使用SHEsis软件平台估计频率上的等位基因和单倍型差异。p值采用Bonferroni校正进行调整。所有snp的基因型和等位基因频率在ARC患者和对照组之间没有差异。在单倍型分析中，Kinesin轻链1基因（KLC1）的rs7154572、rs7150141和rs12432994组成的单倍型与ARC有显著的相关性（p = 0.000878）。罕见的单倍型CGT在患者中更为常见（p = 0.000106，校正75次后p = 0.00795）。我们的研究提供了证据，表明KLC1基因内三种变异的联合作用可能导致ARC易感性，但确切的机制需要进一步研究。
The causal genes for congenital cataract are good candidates for the genetic susceptibility for age-related cataract (ARC). The aim of this study was to investigate association between the polymorphisms in the causal genes for congenital cataract and ARC in a Chinese population. Meanwhile, we performed the replication study for previous identified risk genes for ARC. We recruited 212 sporadic Han Chinese patients with age-related cataracts (ARC) and 172 normal controls in this study. We analyzed 31 SNPs from 13 genes which mostly possible contributes the progress of ARC in a Chinese population, comprising 212 cataract patients and 172 controls. Polymorphism-spanning fragments were amplified by using the multiplex polymerase chain reaction (PCR) and genotyped using primer extension method in MassARRAY platform. Allelic and haplotypic difference in the frequencies were estimated using the SHEsis software platform. P-value was adjusted by the Bonferroni correction. There was no difference in the frequencies of the genotype and allele of the all SNPs between the patients with ARC and the controls. In the haplotypic analysis, the haplotypes consisting of rs7154572, rs7150141 and rs12432994 in Kinesin Light Chain 1 Gene (KLC1) showed significant association with ARC (p = 0.000878). A rare haplotype CGT was more frequent in patients (p = 0.000106, and p = 0.00795 after corrected for 75 tests). Our study provides evidence that the combined effect of three variants within the KLC1 gene may predispose to ARC, but the precise mechanism needs further investigating.
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影响因子：
44.1
作者：
Shi, YY;He, L
通讯作者：
He, L
影响因子：
3.5
作者：
Jamieson, RV;Perveen, R;Black, GCM
通讯作者：
Black, GCM
影响因子：
3.7
作者：
Sundaresan P;Ravindran RD;Vashist P;Shanker A;Nitsch D;Talwar B;Maraini G;Camparini M;Nonyane BA;Smeeth L;Chakravarthy U;Hejtmancik JF;Fletcher AE
通讯作者：
Fletcher AE
影响因子：
30.8
作者：
通讯作者：
--
影响因子：
3.9
作者：
Robman, L;Taylor, H
通讯作者：
Taylor, H