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NALP1 基因与约旦阿拉伯人泛发性白癜风的关联。

Genetic association of NALP1 with generalized vitiligo in Jordanian Arabs.

机构信息

Biotechnology and Genetic Engineering Department, Jordan University of Science and Technology, Irbid, Jordan.

出版信息

Arch Dermatol Res. 2010 Oct;302(8):631-4. doi: 10.1007/s00403-010-1064-1. Epub 2010 Jun 24.


DOI:10.1007/s00403-010-1064-1
PMID:20574744
Abstract

Generalized vitiligo is an autoimmune disorder characterized by patchy loss of pigmentation due to autoimmune destruction of melanocytes in the involved areas. Vitiligo is a polygenic, multifactorial disorder involving multiple genes and unknown environmental triggers. Recently, genetic variation in NALP1 (also called NLRP1), encoding a key regulator of the innate immune response, has been associated with generalized vitiligo in Caucasians of northern European origin. Here, we have investigated whether NALP1 is also associated with generalized vitiligo in Jordanian Arab patients. We genotyped 8 NALP1 single-nucleotide polymorphisms (SNPs) in 26 generalized vitiligo patients and 61 matched controls unaffected by vitiligo or any other autoimmune disorder. We found that two SNPs in the NALP1 extended promoter region, rs1008588 and rs2670660 were significantly associated with generalized vitiligo in our cohort of Arab vitiligo patients, and several other SNPs in the NALP1 region were at the margin of significant association. These results indicate that NALP1 is associated with susceptibility to generalized vitiligo in Arabs, as in Caucasians. Whether the casual variants are the same of not is yet to be identified by functional analysis.

摘要

全身性白癜风是一种自身免疫性疾病,其特征是由于受累区域的黑素细胞自身免疫破坏导致色素脱失。白癜风是一种多基因、多因素的疾病,涉及多个基因和未知的环境触发因素。最近,NALP1(也称为 NLRP1)基因的遗传变异与北欧裔白种人全身性白癜风有关,该基因编码先天免疫反应的关键调节因子。在这里,我们研究了 NALP1 是否也与约旦阿拉伯裔全身性白癜风患者有关。我们对 26 名全身性白癜风患者和 61 名未受白癜风或任何其他自身免疫性疾病影响的匹配对照者的 8 个 NALP1 单核苷酸多态性(SNP)进行了基因分型。我们发现,NALP1 扩展启动子区域中的两个 SNP(rs1008588 和 rs2670660)与我们的阿拉伯裔白癜风患者队列中的全身性白癜风显著相关,NALP1 区域的其他几个 SNP 也处于显著相关的边缘。这些结果表明,NALP1 与阿拉伯人全身性白癜风的易感性有关,就像在白种人一样。是否是相同的致病变体还有待通过功能分析来确定。

相似文献

[1]
Genetic association of NALP1 with generalized vitiligo in Jordanian Arabs.

Arch Dermatol Res. 2010-6-24

[2]
NALP1 in vitiligo-associated multiple autoimmune disease.

N Engl J Med. 2007-3-22

[3]
Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population.

J Invest Dermatol. 2007-11

[4]
SMOC2 gene variant and the risk of vitiligo in Jordanian Arabs.

Eur J Dermatol. 2010-10-22

[5]
Association of NLRP1 genetic variants and mRNA overexpression with generalized vitiligo and disease activity in a Gujarat population.

Br J Dermatol. 2013-11

[6]
Lack of genetic association of promoter and structural variants of mannan-binding lectin (MBL2) gene with susceptibility to generalized vitiligo.

Br J Dermatol. 2009-7

[7]
A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes.

Genes Immun. 2009-3

[8]
A coding variant in NLRP1 is associated with autoimmune Addison's disease.

Hum Immunol. 2010-3-1

[9]
NALP1/NLRP1 genetic variants are associated with Alzheimer disease.

Alzheimer Dis Assoc Disord. 2012

[10]
Polimorphisms in inflammasome genes are involved in the predisposition to systemic lupus erythematosus.

Autoimmunity. 2012-2-7

引用本文的文献

[1]
Aberrant inflammasome activation as a driving force of human autoimmune skin disease.

Front Immunol. 2023

[2]
Evaluation of polymorphisms and expression of , and genes in vitiligo patients.

Postepy Dermatol Alergol. 2023-4

[3]
Melanocyte-keratinocyte cross-talk in vitiligo.

Front Med (Lausanne). 2023-5-19

[4]
Inflammasomes in Common Immune-Related Skin Diseases.

Front Immunol. 2020

[5]
Assessment of Serum Vitamin D Levels in Patients with Vitiligo in Jordan: A Case-Control Study.

Dermatol Res Pract. 2019-10-10

[6]
Meta-analysis of the association between polymorphisms and the susceptibility to vitiligo and associated autoimmune diseases.

Oncotarget. 2017-9-22

[7]
NOD-Like Receptors in Infection, Immunity, and Diseases.

Yonsei Med J. 2016-1

[8]
Current aspects of vitiligo genetics.

Postepy Dermatol Alergol. 2014-8

[9]
Concise review of recent studies in vitiligo.

Qatar Med J. 2013-12-23

[10]
Vitiligo--part 1.

An Bras Dermatol. 2014

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