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印度泰米尔纳德邦1型糖尿病儿童的基因rs13266634 C/T多态性

Gene rs13266634 C/T Polymorphism in Children with Type 1 Diabetes in Tamil Nadu, India.

作者信息

Thirunavukkarasu Ramasamy, Asirvatham Arthur Joseph, Chitra Ayyappan, Jayalakshmi Mariakuttikan

机构信息

Madurai Kamaraj University, School of Biological Sciences, Department of Immunology, Madurai, India

Government Rajaji Hospital, Clinic of Diabetology, Madurai, India

出版信息

J Clin Res Pediatr Endocrinol. 2019 Feb 20;11(1):55-60. doi: 10.4274/jcrpe.galenos.2018.2018.0195. Epub 2018 Sep 10.

DOI:10.4274/jcrpe.galenos.2018.2018.0195
PMID:30197307
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6398198/
Abstract

OBJECTIVE

Zinc transporter 8 (ZnT8) is a multi-transmembrane protein situated in the insulin secretory granule of the islets of β-cells and is identified as a novel auto-antigen in type 1 diabetes (T1D). The gene coding for ZnT8, solute carrier family 30 member 8 () is located on chromosome 8q24.11. This study aimed to identify the association of rs13266634 C/T gene polymorphism with T1D in a sample of T1D children in Tamil Nadu, India.

METHODS

The family based study was conducted in 121 T1D patients and 214 of their family members as controls. The gene rs13266634 C/T polymorphism was evaluated by polymerase chain reaction-restriction fragment length polymorphism.

RESULTS

No significant differences were observed in either allele (odds ratio: 0.92; confidence interval: 0.33-2.58; p=0.88) and genotype (CC: p=0.74; CT: p=0.82; TT: p=0.80) frequencies of rs13266634 C/T between T1D patients and controls. Transmission disequilibrium test has identified over-transmission of mutant T allele from parents to affected children (T: U=9:7) without statistical significance. Metaanalysis on the overall effects of rs13266634 C allele frequency was not different (p=0.10 and P=0.99) in T1D patients as compared to the controls.

CONCLUSION

The present study along with the meta-analysis does not show any substantial association of the rs13266634 C/T polymorphism with T1D development in this population.

摘要

目的

锌转运体8（ZnT8）是一种位于β细胞胰岛胰岛素分泌颗粒中的多跨膜蛋白，被确定为1型糖尿病（T1D）中的一种新型自身抗原。编码ZnT8的基因，溶质载体家族30成员8（）位于8号染色体q24.11上。本研究旨在确定印度泰米尔纳德邦T1D儿童样本中rs13266634 C/T基因多态性与T1D的关联。

方法

基于家系的研究纳入了121例T1D患者及其214名家庭成员作为对照。通过聚合酶链反应-限制性片段长度多态性评估基因rs13266634 C/T多态性。

结果

在T1D患者和对照之间，rs13266634 C/T的等位基因（优势比：0.92；置信区间：0.33 - 2.58；p = 0.88）和基因型（CC：p = 0.74；CT：p = 0.82；TT：p = 0.80）频率均未观察到显著差异。传递不平衡检验确定突变T等位基因从父母向患病子女的过度传递（T：U = 9：7），但无统计学意义。与对照相比，T1D患者中rs13266634 C等位基因频率的总体效应的荟萃分析无差异（p = 0.10和P = 0.99）。

结论

本研究以及荟萃分析均未显示该人群中rs13266634 C/T多态性与T1D发生有任何实质性关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6ee/6398198/3341774a7aed/JCRPE-11-55-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6ee/6398198/3341774a7aed/JCRPE-11-55-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6ee/6398198/3341774a7aed/JCRPE-11-55-g1.jpg

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