Vitiligo Is Associated with a Significant Increase in HLA-A30, Cw6 and DQw3 and a Decrease in C4AQ0 in Northern Italian Patients

Orecchia, G.; Perfetti, L.; Malagoli, Piergiorgio; Borghini, Fabrizio; Kipervarg, Y

doi:10.1159/000247426

Cited by 57 publications

(57 citation statements)

References 12 publications

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“…Several studies have reported HLA associations in early-onset vs late-onset vitiligo cases. 10,28,29 Classification of vitiligo patients by age of onset was therefore important to detect valid genetic association with the LMP/TAP gene cluster. We detected no association between the LMP/TAP or MECL1 genes and late-onset vitiligo (data not shown).…”

Section: Discussionmentioning

confidence: 99%

Genes of the LMP/TAP cluster are associated with the human autoimmune disease vitiligo

She

McCormack

2003

Genes Immun

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Genes within the class II region of the major histocompatibility complex (MHC), including genes involved in antigen processing and presentation, have been reported to be associated with several autoimmune diseases. We report here that the LMP/TAP gene region is significantly associated with vitiligo, a disorder in which biochemical defects and/or autoimmune destruction cause melanocyte loss and resulting skin depigmentation. Case/control analyses revealed genetic association of vitiligo in Caucasian patients with an early age of onset with the transporter associated with antigen processing-1 (TAP1) gene. A familybased association method revealed biased transmission of specific alleles from heterozygous parents to affected offspring for the TAP1 gene, as well as for the closely linked LMP2 and LMP7 genes encoding subunits of the immunoproteasome. No association with vitiligo was found for the MECL1 gene, which encodes a third immunoproteasome subunit and is unlinked to the MHC class II region. These results suggest a possible role for the MHC class I antigen processing and/or presentation pathway in the antimelanocyte autoimmune response involved in vitiligo pathogenesis.

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Section: Discussionmentioning

confidence: 99%

Genes of the LMP/TAP cluster are associated with the human autoimmune disease vitiligo

She

McCormack

2003

Genes Immun

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“…A decrease has also been observed in HLAA30, HLACw6, and HLADQw3 allele frequencies, in a study conducted in those with vitiligo in North Italy (14). Zamani et al (15) concluded in their study that there might be a connection be-tween HLADRB4*0101 and HLADQB1*0303 alleles and vitiligo.…”

Section: Introductionmentioning

confidence: 89%

Polymorphisms in the Melanocortin-1 Receptor (Mc1R) Gene in Vitiligo

Acar¹,

Bozkurt²,

Görgülü³

2012

Balkan Med J

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Objective: Vitiligo is a progressive skin pigmentation disorder, which may be acquired or hereditary, frequently seen, and may influence every age group. The melanocortin 1 receptor (MC1R) gene is a major determinant of human pigmentation. In our study, polymorphic differences of the MC1R gene at the DNA level has been investigated in patients with vitiligo. Materials and Methods:In our study, polymorphic differences of the MC1R gene at the DNA level has been investigated in vitiligo 60 patients, whose families had resided in the Thrace region of Turkey for at least three generations. The 60 volunteer healthy individuals have no other systemic and dermatological disease.

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“…20 Orecchia et al studied Italian individuals and observed a high frequency of HLA-A30, -Cw6 and -DQw3 antigens. 21 Zamani et al reported an increased frequency of HLA-DRB4*0101 and -DQB1*0303 alleles in the Dutch population. 22 In black patients there was a higher frequency of HLA-DR4 and -DQw3 antigens.…”

Section: Vitiligomentioning

confidence: 97%

“…23 HLA-DQw3 and -DR4 antigens seem to be more frequent in patients with a positive family history for autoimmune diseases, whereas HLA-DRw6, -A30 and -DQw3 antigens occur more frequently in those with a negative family history for these diseases. 21,23 As to the clinical spectrum, Orecchia et al demonstrated that individuals with extensive lesions had a higher frequency of HLA-A30 and -Cw6 antigens. 21 Venkataram et al suggested the association of HLA-DR7 antigen with the acrofacial involvement.…”

Section: Vitiligomentioning

confidence: 99%

“…21,23 As to the clinical spectrum, Orecchia et al demonstrated that individuals with extensive lesions had a higher frequency of HLA-A30 and -Cw6 antigens. 21 Venkataram et al suggested the association of HLA-DR7 antigen with the acrofacial involvement. 24 Since it is an autoimmune condition associated with the HLA system, differences in the results of distinct studies are expected, especially because they cover populations with diverse ethnical backgrounds.…”

Section: Vitiligomentioning

confidence: 99%

See 1 more Smart Citation

Antígenos de histocompatibilidade humanos e dermatologia: da pesquisa para a prática clínica

Alves

Vieira

Meyer

et al. 2006

An. Bras. Dermatol.

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Abstract:The participation of the human histocompatibility system (HLA: human leukocyte antigens) in the pathogenesis of autoimmune diseases is well known. Situated on the short arm of chromosome 6, the HLA system is very polymorphic and has the capacity to confer susceptibility or resistance to different diseases. In Dermatology, this system has an important participation in the pathogenesis and natural course of various diseases. The strength and type of association differ with conditions and sometimes with the ethnic-racial group studied. The discovery of molecular methods to typify HLA alleles and recent updates in its nomenclature has contributed to a better understanding of this system. Unfortunately, this information has not been adequately transmitted in the literature, hindering identification of the association of the HLA with skin diseases. In this review, some aspects of the HLA system are discussed, such as methods of detection, nomenclature and association with vitiligo, pemphigus, psoriasis, lupus erythematosus, scabies, cutaneous leishmaniasis, leprosy, paracoccidiodomycosis and atopic dermatitis.

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Vitiligo Is Associated with a Significant Increase in HLA-A30, Cw6 and DQw3 and a Decrease in C4AQ0 in Northern Italian Patients

Cited by 57 publications

References 12 publications

Genes of the LMP/TAP cluster are associated with the human autoimmune disease vitiligo

Genes of the LMP/TAP cluster are associated with the human autoimmune disease vitiligo

Polymorphisms in the Melanocortin-1 Receptor (Mc1R) Gene in Vitiligo

Antígenos de histocompatibilidade humanos e dermatologia: da pesquisa para a prática clínica

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