Association of Generalized Vitiligo with MHC Class II Loci in Patients from the Indian Subcontinent

Birlea, Stanca A.; Ahmad, Fridoon Jawad; Uddin, Raza Mohy; Ahmad, Shakil; Pal, Sabrina Suhail; Begum, Rasheedunnisa; Laddha, Naresh C.; Dwivedi, Mitesh; Mansuri, Mohmmad Shoab; Jin, Ying; Gowan, Katherine; Riccardi, Sheri L.; Holland, Paulene J.; Ben, Songtao; Fain, Pamela R.; Spritz, Richard A.

doi:10.1038/jid.2012.501

Cited by 32 publications

(28 citation statements)

References 14 publications

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“…We also showed that the three most significant class II region SNPs: rs3096691 (just upstream of NOTCH4 ), rs3129859 (just upstream of HLA-DRA ), and rs482044 (between HLA-DRB1 and HLA-DQA1 ) are associated with GV [75]. The genotype-phenotype correlation of TNFA, CTLA4 , IL4 , MYG1 , IFNG and NALP1 gene polymorphisms supported the autoimmune pathogenesis of vitiligo in Gujarat population [18], [76]–[80]; whereas our earlier studies on CAT , MBL2 , ACE , PTPN22 polymorphisms did not show significant association [81]–[84].…”

Section: Discussionmentioning

confidence: 63%

Tumor Necrosis Factor B (TNFB) Genetic Variants and Its Increased Expression Are Associated with Vitiligo Susceptibility

et al. 2013

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Genetic polymorphisms in TNFB are involved in the regulation of its expression and are found to be associated with various autoimmune diseases. 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. 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 two polymorphisms investigated in the TNFB were in strong linkage disequilibrium and significantly associated with vitiligo. TNFB and ICAM1 transcripts were significantly increased in patients compared to controls. Active vitiligo patients showed significant increase in TNFB transcripts compared to stable vitiligo. The genotype-phenotype analysis revealed that TNFB expression levels were higher in patients with GG and AA genotypes as compared to controls. Patients with the early age of onset and female patients showed higher 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. 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. Moreover, the study also emphasizes influence of TNFB and ICAM1 on the disease progression, onset and gender bias for developing vitiligo.

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Section: Discussionmentioning

confidence: 63%

Tumor Necrosis Factor B (TNFB) Genetic Variants and Its Increased Expression Are Associated with Vitiligo Susceptibility

et al. 2013

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“…Recently, we have shown positive association of HLA-A*33:01, HLA-B*44:03, and HLA-DRB1*07:01 with vitiligo patients from North India and Gujarat suggesting an autoimmune link of vitiligo in these cohorts [28]. We have also shown that the three most significant class II region SNPs: rs3096691 (just upstream of NOTCH4), rs3129859 (just upstream of HLA-DRA), and rs482044 (between HLA-DRB1 and HLA-DQA1) are associated with generalized vitiligo in Indian population [29]. The genotype-phenotype correlation of CTLA4, IL4 and TNFA gene polymorphisms also supported the autoimmune pathogenesis of vitiligo in Gujarat population whereas our earlier studies on CAT, GPX, MBL2, ACE, and PTPN22 polymorphisms did not show significant association [30][31][32][33][34][35][36].…”

Section: Discussionmentioning

confidence: 71%

Correlation of increased MYG1 expression and its promoter polymorphism with disease progression and higher susceptibility in vitiligo patients

Dwivedi

Laddha

Begum

2013

Journal of Dermatological Science

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“…Thus, vitiligo association with at least LPP , the HLA class I gene region, CCR6 , IL2RA , IKZF4 and C1QTNF6 appears to be shared between the Caucasian and Chinese populations, though other genes associated with vitiligo susceptibility or protection may be population‐specific, particularly TYR , OCA2 and MC1R . Similarly, the Indian–Pakistani GWAS reported association only with the MHC class II gene region, and formal trans‐ethnic analysis indicated that association signals in Caucasians and Indian–Pakistani patients in this genomic region likely share the same ancestral origin …”

Section: Molecular Genetic Eramentioning

confidence: 99%

“…Three large GWAS of vitiligo have been reported thus far; two in Caucasians and one in Chinese, while a small gene‐centric GWAS of vitiligo has been reported in Indian–Pakistani patients . These studies have detected 30 vitiligo susceptibility loci in Caucasians (Table ): PTPN22 , RERE , IFIH1 , CTLA4 (only in patients with other autoimmune diseases), FOXP1 , CD80 , LPP , CLNK , TSLP , HLA‐A , MHC class II ( c6orf10‐BTNL2‐DRB1‐DQA1 ), BACH2 , CCR6 , TG / SLA , IL2RA , CASP7 , CD44 , TYR , a gene desert at 11q21, IKZF4 , SH2B3 , GZMB , OCA2 , MC1R , TICAM1 , UBASH3A , XBP1 , C1QTNF6 , TOB2 , and FOXP3 .…”

Section: Molecular Genetic Eramentioning

confidence: 99%

Modern vitiligo genetics sheds new light on an ancient disease

Spritz

2013

The Journal of Dermatology

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Vitiligo is a complex disorder in which autoimmune destruction of melanocytes results in white patches of skin and overlying hair. Over the past several years, extensive genetic studies have outlined a biological framework of vitiligo pathobiology that underscores its relationship to other autoimmune diseases. This biological framework offers insight into both vitiligo pathogenesis and perhaps avenues towards more effective approaches to treatment and even disease prevention.

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Association of Generalized Vitiligo with MHC Class II Loci in Patients from the Indian Subcontinent

Cited by 32 publications

References 14 publications

Tumor Necrosis Factor B (TNFB) Genetic Variants and Its Increased Expression Are Associated with Vitiligo Susceptibility

Tumor Necrosis Factor B (TNFB) Genetic Variants and Its Increased Expression Are Associated with Vitiligo Susceptibility

Correlation of increased MYG1 expression and its promoter polymorphism with disease progression and higher susceptibility in vitiligo patients

Modern vitiligo genetics sheds new light on an ancient disease

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