巴基斯坦人群中和基因单核苷酸多态性变异与先天性白内障的关联。

Association of single nucleotide polymorphism variations in and genes with congenital cataract in Pakistani population.

作者信息

Jarwar Priya, Waryah Yar Muhammad, Rafiq Muhammad, Waryah Ali Muhammad

机构信息

Institute of Biotechnology and Genetic Engineering, University of Sindh, Jamshoro, Pakistan.

Scientific Ophthalmic and Research Laboratory, Sindh Institute of Ophthalmology and Visual Sciences, Hyderabad 71500, Pakistan.

出版信息

Saudi J Biol Sci. 2022 Apr;29(4):2727-2732. doi: 10.1016/j.sjbs.2021.12.063. Epub 2022 Jan 3.

DOI:10.1016/j.sjbs.2021.12.063

PMID:35531184

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9073017/

Abstract

BACKGROUND

The purpose of present study was to analyze the association of single nucleotide polymorphism (SNPs) variant in and genes with Congenital Cataract.

METHOD

Total 196 blood samples of children were collected, out of which 102 samples were congenital cataract (case group) and 94 samples were normal individuals (control group). Genomic DNA was extracted by using optimized inorganic method. Tetra primers for SNPs were designed and TETRA-ARMs assay was performed on both groups. Genotypic, allelic frequency and haplotype analyses were obtained by using SNPstats software.

RESULTS

The coordination of genotypic and allelic frequencies of and genes variants and the association between case and control groups showed increased risk of congenital cataract in children who contained variant of in all models (all P > 0.05). This depicts the evident difference between the frequencies of case and control groups. The haplotype analysis of SNPs , and of gene showed weak linkage disequilibrium between the 3 SNPs (r < 0.8). The haplotype CTC indicated the high risk of congenital cataract in infants based of its p value (OR = 1.60 95% CI = 0.11-22.64, P > 0.05).

CONCLUSION

The variation in gene can be the risk factor for congenital cataract in infants.

摘要

背景

本研究旨在分析和基因中的单核苷酸多态性（SNP）变异与先天性白内障的关联。

方法

收集了196例儿童血样，其中102例为先天性白内障患者（病例组），94例为正常个体（对照组）。采用优化的无机方法提取基因组DNA。设计了针对SNP的四引物，并对两组进行了四引物扩增受阻突变体系（TETRA-ARMs）检测。使用SNPstats软件进行基因型、等位基因频率和单倍型分析。

结果

和基因变异的基因型和等位基因频率的协调性以及病例组与对照组之间的关联显示，在所有模型中，携带基因变异的儿童患先天性白内障的风险增加（所有P>0.05）。这表明病例组和对照组的频率存在明显差异。基因的SNP 、和的单倍型分析显示，这3个SNP之间存在弱连锁不平衡（r<0.8）。单倍型CTC根据其P值表明婴儿患先天性白内障的风险较高（OR = 1.60，95%CI = 0.11 - 22.64，P>0.05）。