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蛋白酪氨酸磷酸酶非受体22型基因多态性C1858T与伊朗西北部阿塞拜疆的麻风病无关。

Protein tyrosine phosphatase non-receptor type 22 gene polymorphism C1858T is not associated with leprosy in Azerbaijan, Northwest Iran.

作者信息

Aliparasti Mohammad Reza, Almasi Shohreh, Majidi Jafar, Zamani Fatemeh, Khoramifar Ali Reza, Azari Ali Reza Farshi

机构信息

Drug Applied Research Center; Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran ; Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran ; Department of Immunology, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.

Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran ; Department of Immunology, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.

出版信息

Indian J Hum Genet. 2013 Oct;19(4):403-7. doi: 10.4103/0971-6866.124365.

Abstract

BACKGROUND

Leprosy (Hansen's disease) is a human chronic granulomatous infectious disease caused by Mycobacterium leprae. Several types of study support a role for host genetics in susceptibility to leprosy. The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene encodes an intracellular lymphoid protein tyrosine phosphatase that has been shown to play a negative regulatory role in T-cell activation.

AIMS

The aim of the present study was to find out associating the PTPN22 C1858T (R620W) polymorphism and leprosy in the Azeri population from Northwest Iran.

MATERIALS AND METHODS

A total of 153 treated leprosy patients and 197 healthy and ethnic matched controls entered this study. We used restriction fragment length polymorphism method to type PTPN22 C1858T polymorphism.

RESULTS

There was no significant difference in distribution of genotype and allele frequencies of PTPN22 C1858T polymorphism between leprosy patients and controls (P = 0.641 and 0.645; respectively). Moreover, there was no significant association between different clinical findings (karnofsky performance status score, clinical forms and manifestations of leprosy) and PTPN22 C1858T polymorphism. Data showed a low frequency of the minor (T) allele by 2.3% in leprosy and 1.5% in healthy individuals.

CONCLUSIONS

The PTPN22 C1858T (R620W) is not relevant in susceptibility to leprosy in the Azeri population of Northwest Iran.

摘要

背景

麻风病(汉森氏病)是由麻风分枝杆菌引起的一种人类慢性肉芽肿性传染病。多种研究表明宿主基因在麻风易感性中起作用。蛋白酪氨酸磷酸酶非受体22型(PTPN22)基因编码一种细胞内淋巴细胞蛋白酪氨酸磷酸酶,已证明其在T细胞激活中起负调节作用。

目的

本研究旨在探讨伊朗西北部阿塞拜疆人群中PTPN22 C1858T(R620W)多态性与麻风病的相关性。

材料与方法

共有153例接受治疗的麻风病患者和197名健康且种族匹配的对照者参与本研究。我们采用限制性片段长度多态性方法对PTPN22 C1858T多态性进行分型。

结果

麻风病患者与对照者之间PTPN22 C1858T多态性的基因型和等位基因频率分布无显著差异(P值分别为0.641和0.645)。此外,不同临床指标(卡诺夫斯基功能状态评分、麻风病的临床类型和表现)与PTPN22 C1858T多态性之间无显著关联。数据显示,次要(T)等位基因在麻风病患者中的频率较低,为2.3%,在健康个体中为1.5%。

结论

在伊朗西北部阿塞拜疆人群中,PTPN22 C1858T(R620W)与麻风易感性无关。

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Human genetic susceptibility to intracellular pathogens.人体对细胞内病原体的遗传易感性。
Immunol Rev. 2011 Mar;240(1):105-16. doi: 10.1111/j.1600-065X.2010.00996.x.
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Leprosy as a genetic disease.麻风病是一种遗传病。
Mamm Genome. 2011 Feb;22(1-2):19-31. doi: 10.1007/s00335-010-9287-1. Epub 2010 Oct 9.
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The innate immune response in leprosy.麻风病中的先天免疫反应。
Curr Opin Immunol. 2010 Feb;22(1):48-54. doi: 10.1016/j.coi.2009.12.001. Epub 2010 Jan 7.

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