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蛋白酪氨酸磷酸酶PTPN22 +1858C/T基因多态性与活动性白癜风相关。

Protein tyrosine phosphatase PTPN22 +1858C/T polymorphism is associated with active vitiligo.

作者信息

Garcia-Melendez Martha Elena, Salinas-Santander Mauricio, Sanchez-Dominguez Celia, Gonzalez-Cardenas Hugo, Cerda-Flores Ricardo M, Ocampo-Candiani Jorge, Ortiz-López Rocío

机构信息

Dermatology Service, Hospital Universitario 'Dr. José Eleuterio González', Monterrey, CP 64460, Nuevo León, Mexico.

Department of Biochemistry and Molecular Medicine, Faculty of Medicine, Universidad Autónoma de Nuevo León, Monterrey, CP 64460, Nuevo León, Mexico ; Saltillo Unit Faculty of Medicine, Universidad Autónoma de Coahuila, Saltillo CP 25000, Coahuila, Mexico.

出版信息

Exp Ther Med. 2014 Nov;8(5):1433-1437. doi: 10.3892/etm.2014.1975. Epub 2014 Sep 17.


DOI:10.3892/etm.2014.1975
PMID:25289035
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4186394/
Abstract

Vitiligo is characterized by a skin depigmentation disorder resulting from an autoimmune response targeting melanocytes. Within the genetic factors involved in the development of the vitiligo immune response, various genes in the major histocompatibility complex (MHC) and non-MHC loci have been considered to be risk factors. The gene encodes for a lymphoid protein tyrosine phosphatase, a regulator of the activation and development of T-cells. The polymorphism has been associated to autoimmune disease susceptibility in different populations and could be implicated in the onset of vitiligo. To assess the possible association between the presence of and vitiligo, 187 patients with vitiligo and 223 control subjects were analyzed in the study. Genomic DNA was isolated using the salting-out method and samples were subjected to polymerase chain reaction-restriction fragment length polymorphism in order to detect the polymorphism. Causal associations were determined by χ test and their respective odds ratio (OR) was assessed in a 2×2 contingency table. The results showed an association between active vitiligo and the allele T load [P=0.0418; OR, 2.5706; 95% confidence interval (CI), 1.0040-6.5816], and active vitiligo-CT genotype (P=0.0389, OR, 2.6548; 95% CI, 1.0191-6.9156). In conclusion, the present data indicates a possible association between the genotype and a significant susceptibility of developing an active form of vitiligo.

摘要

白癜风的特征是一种由针对黑素细胞的自身免疫反应导致的皮肤色素脱失性疾病。在参与白癜风免疫反应发生发展的遗传因素中,主要组织相容性复合体(MHC)和非MHC基因座中的各种基因被认为是危险因素。该基因编码一种淋巴细胞蛋白酪氨酸磷酸酶,它是T细胞激活和发育的调节因子。该多态性在不同人群中与自身免疫性疾病易感性相关,可能与白癜风的发病有关。为了评估该基因的存在与白癜风之间的可能关联,本研究分析了187例白癜风患者和223例对照受试者。采用盐析法分离基因组DNA,并对样本进行聚合酶链反应-限制性片段长度多态性分析,以检测该基因多态性。通过χ²检验确定因果关联,并在2×2列联表中评估其各自的优势比(OR)。结果显示,活动期白癜风与T等位基因负荷之间存在关联[P = 0.0418;OR,2.5706;95%置信区间(CI),1.0040 - 6.5816],以及活动期白癜风与CT基因型之间存在关联(P = 0.0389,OR,2.6548;95% CI,1.0191 - 6.9156)。总之,目前的数据表明该基因的基因型与发生活动型白癜风的显著易感性之间可能存在关联。

相似文献

[1]
Protein tyrosine phosphatase PTPN22 +1858C/T polymorphism is associated with active vitiligo.

Exp Ther Med. 2014-11

[2]
The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population.

Pigment Cell Melanoma Res. 2008-4

[3]
Association of protein tyrosine phosphatase, non-receptor type 22 +1858C→T polymorphism and susceptibility to vitiligo: Systematic review and meta-analysis.

Indian J Dermatol Venereol Leprol. 2017

[4]
The +1858C/T PTPN22 gene polymorphism confers genetic susceptibility to rheumatoid arthritis in Mexican population from the Western Mexico.

Immunol Lett. 2012-6-26

[5]
Clinical characteristics and PTPN22 1858C/T variant analysis in Jordanian Arab vitiligo patients.

Mol Diagn Ther. 2010-6-1

[6]
Association of PTPN22 gene polymorphism with non-segmental vitiligo in South Indian Tamils.

Postepy Dermatol Alergol. 2018-6

[7]
Assessment of biochemical parameters and characterization of α -308G/A and +1858C/T gene polymorphisms in the risk of obesity in adolescents.

Biomed Rep. 2016-1

[8]
Association between PTPN22 C1858T polymorphism and alopecia areata risk.

Exp Ther Med. 2015-11

[9]
The role of PTPN22 gene polymorphism in childhood immune thrombocytopenic purpura.

Blood Coagul Fibrinolysis. 2011-9

[10]
A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo.

Genes Immun. 2005-10

引用本文的文献

[1]
Evaluation of polymorphisms and expression of , and genes in vitiligo patients.

Postepy Dermatol Alergol. 2023-4

[2]
Whole Exome Sequencing Reveals Clustering of Variants of Known Vitiligo Genes in Multiplex Consanguineous Pakistani Families.

Genes (Basel). 2023-5-22

[3]
Association between the CTLA4 +49A/G (rs231775) and CT60 (rs3087243) gene variants with vitiligo: study on a Mexican population.

An Bras Dermatol. 2022

[4]
Novel immunological and genetic factors associated with vitiligo: A review.

Exp Ther Med. 2021-4

[5]
Association of Functional Polymorphism in Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) Gene with Vitiligo.

Biomark Insights. 2020-1-31

[6]
Cannabinoid Signaling in the Skin: Therapeutic Potential of the "C(ut)annabinoid" System.

Molecules. 2019-3-6

[7]
Association of PTPN22 gene polymorphism with non-segmental vitiligo in South Indian Tamils.

Postepy Dermatol Alergol. 2018-6

[8]
Association of PTPN22 1858C→T polymorphism, HLA-DRB1 shared epitope and autoantibodies with rheumatoid arthritis.

Rheumatol Int. 2016-8

[9]
The functional PTPN22 C1858T polymorphism confers risk for rheumatoid arthritis in patients from Central Mexico.

Clin Rheumatol. 2016-6

[10]
Assessment of biochemical parameters and characterization of α -308G/A and +1858C/T gene polymorphisms in the risk of obesity in adolescents.

Biomed Rep. 2016-1

本文引用的文献

[1]
Stability in Vitiligo: Is there a Perfect Way to Predict it?

J Cutan Aesthet Surg. 2013-4

[2]
Clinical profile of generalized vitiligo patients with associated autoimmune/autoinflammatory diseases.

J Eur Acad Dermatol Venereol. 2013-4-17

[3]
Lack of association between the protein tyrosine phosphatase non-receptor type 22 R263Q and R620W functional genetic variants and endogenous non-anterior uveitis.

Mol Vis. 2013

[4]
The CTLA-4 +49 A/G, CT60 A/G and PTPN22 1858 C/T polymorphisms and susceptibility to vitiligo: a meta-analysis.

Mol Biol Rep. 2012-12-24

[5]
The +1858C/T PTPN22 gene polymorphism confers genetic susceptibility to rheumatoid arthritis in Mexican population from the Western Mexico.

Immunol Lett. 2012-6-26

[6]
PTPN22 C1858T and the risk of psoriasis: a meta-analysis.

Mol Biol Rep. 2012-4-28

[7]
Sex differences and genomics in autoimmune diseases.

J Autoimmun. 2011-12-27

[8]
The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness.

Nat Genet. 2011-8-14

[9]
Th17 cells and activated dendritic cells are increased in vitiligo lesions.

PLoS One. 2011-4-25

[10]
Why is PTPN22 a good candidate susceptibility gene for autoimmune disease?

FEBS Lett. 2011-4-20

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