![]() ![]() Analysis of cytokine gene polymorphisms identifies genetic abnormalities of cytokine regulation, thus allows us to establish genotype-phenotype correlation which may be important in unraveling the disease pathogenesis. , have shown cytokine imbalance in the skin of vitiligo patients suggesting their role in autoimmune pathogenesis of vitiligo. ![]() Ĭytokines are important mediators of immunity and there is now convincing evidence that cytokines also have an important role in the pathogenesis of autoimmunity. A number of genes have been implicated in the pathogenesis of vitiligo on the basis of genetic linkage and association studies, including MHC, ACE, CAT, CTLA4, COMT, ESR, MBL2, PTPN22, HLA, NALP1, XBP1, FOXP1 and IL2RA that are involved in the regulation of immunity. Epidemiological studies have shown frequent family clustering of vitiligo cases, with elevated risk of vitiligo in first-degree relatives and high concordance in monozygotic twins, , suggesting a genetic basis for vitiligo. The exact etiology of vitiligo remains obscure, but autoimmunity has been strongly implicated in the development of disease as approximately 30% of vitiligo patients are affected with at least one additional autoimmune disorder. ![]() It affects approximately 0.5–1% of the world population. It is a polygenic, multifactorial disorder involving multiple susceptibility genes and unknown environmental triggers –. The absence of melanocytes from the lesional skin due to their destruction has been suggested to be the key event in the pathogenesis of vitiligo. Vitiligo is an acquired, hypomelanotic disease characterized by circumscribed depigmented macules. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.Ĭompeting interests: The authors have declared that no competing interests exist. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.įunding: This work was supported by grants to RB (BMS/Adhoc/122/11-2012) ICMR, New Delhi, India (GSBTM/MD/PROJECTS/SSA/453/2010-2011), GSBTM, Gandhinagar, Gujarat, India and (BT/PR9024/MED/12/332/2007) DBT, New Delhi, India. Received: MaAccepted: OctoPublished: November 27, 2013Ĭopyright: © 2013 Laddha et al. PLoS ONE 8(11):Įditor: Srinivas Mummidi, South Texas Veterans Health Care System and University of Texas Health Science Center at San Antonio, United States of America Moreover, the study also emphasizes influence of TNFB and ICAM1 on the disease progression, onset and gender bias for developing vitiligo.Ĭitation: Laddha NC, Dwivedi M, Gani AR, Mansuri MS, Begum R (2013) Tumor Necrosis Factor B ( TNFB) Genetic Variants and Its Increased Expression Are Associated with Vitiligo Susceptibility. For the first time, we show that TNFB +252A/G and exon 3 C/A polymorphisms are associated with vitiligo susceptibility and influence the TNFB and ICAM1 expression. Overall, our findings suggest that the increased TNFB transcript levels in vitiligo patients could result, at least in part, from variations at the genetic level which in turn leads to increased ICAM1 expression. Patients with the early age of onset and female patients showed higher TNFB and ICAM1 expression. The genotype-phenotype analysis revealed that TNFB expression levels were higher in patients with GG and AA genotypes as compared to controls. Active vitiligo patients showed significant increase in TNFB transcripts compared to stable vitiligo. ![]() TNFB and ICAM1 transcripts were significantly increased in patients compared to controls. The two polymorphisms investigated in the TNFB were in strong linkage disequilibrium and significantly associated with vitiligo. We have earlier reported the role of TNFA in autoimmune pathogenesis of vitiligo, and we now show the involvement of TNFB in vitiligo pathogenesis. The aim of the present study was to determine whether TNFB +252A/G (rs909253) and exon 3 C/A (rs1041981) polymorphisms are associated with vitiligo susceptibility, and expression of TNFB and ICAM1 affects the disease onset and progression. Genetic polymorphisms in TNFB are involved in the regulation of its expression and are found to be associated with various autoimmune diseases. ![]()
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