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PTPN22基因多态性与南印度泰米尔人非节段性白癜风的关联

Association of PTPN22 gene polymorphism with non-segmental vitiligo in South Indian Tamils.

作者信息

Rajendiran Kalai Selvi, Rajappa Medha, Chandrashekar Laxmisha, Thappa D M

机构信息

Department of Biochemistry, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

Department of Dermatology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

出版信息

Postepy Dermatol Alergol. 2018 Jun;35(3):280-285. doi: 10.5114/ada.2018.76225. Epub 2018 Jun 18.

Abstract

INTRODUCTION

Non-segmental vitiligo (NSV) is a depigmentation skin disease with loss of melanocytes in the skin.

AIM

To evaluate whether the protein tyrosine phosphatase non-receptor type (PTPN22) single nucleotide polymorphism at +1858C/T had any association with non-segmental vitiligo in South Indian Tamils.

MATERIAL AND METHODS

Genomic DNA was extracted using the phenol-chloroform method, and PTPN22 +1858C/T polymorphism was assayed by Taqman 5'allele discrimination assay. Protein levels were quantified by ELISA.

RESULTS

We found that the allelic frequency of variants of PTPN22 (rs2476601) were significantly different between controls and cases showing a vitiligo risk in the South Indian Tamil population. PTPN22 levels were higher in the heterozygous CT genotype in NSV, when compared with that of the major variant CC genotype of rs2476601.

CONCLUSIONS

This study suggests that the heterozygous CT genotype, of the PTPN22 SNP rs2476601, has a strong risk association with non-segmental vitiligo in South Indian Tamils.

摘要

引言

非节段性白癜风(NSV)是一种皮肤色素脱失性疾病,皮肤中的黑素细胞会缺失。

目的

评估蛋白酪氨酸磷酸酶非受体型(PTPN22)+1858C/T单核苷酸多态性与南印度泰米尔人非节段性白癜风是否存在关联。

材料与方法

采用酚-氯仿法提取基因组DNA,通过Taqman 5'等位基因鉴别分析检测PTPN22 +1858C/T多态性。采用酶联免疫吸附测定法对蛋白水平进行定量分析。

结果

我们发现,在南印度泰米尔人群中,PTPN22(rs2476601)变体的等位基因频率在对照组和显示白癜风风险的病例组之间存在显著差异。与rs2476601的主要变体CC基因型相比,NSV中杂合子CT基因型的PTPN22水平更高。

结论

本研究表明,PTPN22 SNP rs2476601的杂合子CT基因型与南印度泰米尔人非节段性白癜风存在强风险关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11cd/6041708/3682ea7550a8/PDIA-35-32960-g001.jpg

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