Alopecia areata and cytomegalovirus infection in twins: Genes versus environment?

Jackow, Clotilde M.; Puffer, Nancy; Hordinsky, Maria; Nelson, Jay A.; Tarrand, Jeffrey; Duvic, Madeleine

doi:10.1016/s0190-9622(98)70499-2

Cited by 125 publications

(88 citation statements)

References 44 publications

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“…38 Staphylococcal superantigens were also commonly associated with erythrodermic MF/SS patients in our previous study and can stimulate proliferation of CTCL cells. 3,39 The HLA-DR5 allele is also associated with melanoma progression, scleroderma, Hashimoto thyroiditis, and alopecia areata, 40 all characterized by a T-cellmediated immune response. Of interest, the DR5 antigen is also exquisitely sensitive to stimulation by staphylococcal superantigen.…”

Section: Discussionmentioning

confidence: 99%

Cytomegalovirus seropositivity is significantly associated with mycosis fungoides and Sézary syndrome

Herne

Talpur

Breuer-McHam

et al. 2003

Blood

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Section: Discussionmentioning

confidence: 99%

Cytomegalovirus seropositivity is significantly associated with mycosis fungoides and Sézary syndrome

Herne

Talpur

Breuer-McHam

et al. 2003

Blood

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“…Familial AA also occurs, and recurrence risks of 5-6% have been reported for the children of affected individuals. 2,3 The pattern of familiality and a limited twin study, which reports a concordance rate in monozygotic twins of 55%, 3 suggest that multiple genetic factors and environmental factors are involved in the pathology of AA. Nevertheless, the etiopathogenesis of AA remains poorly understood.…”

Section: Introductionmentioning

confidence: 99%

Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata

et al. 2011

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Alopecia areata (AA) is a common hair loss disorder, which is thought to be a tissue-specific autoimmune disease. Previous research has identified a few AA susceptibility genes, most of which are implicated in autoimmunity. To identify new genetic variants and further elucidate the genetic basis of AA, we performed a genome-wide association study using the strategy of pooled DNA genotyping (729 cases, 656 controls). The strongest association was for variants in the HLA region, which confirms the validity of the pooling strategy. The selected top 61 single-nucleotide polymorphisms (SNPs) were analyzed in an independent replication sample (454 cases, 1364 controls). Only one SNP outside of the HLA region (rs304650) showed significant association. This SNP was then analyzed in a second independent replication sample (537 cases, 657 controls). The finding was not replicated on a significant level, but showed the same tendency. A combined analysis of the two replication samples was then performed, and the SNP rs304650 showed significant association with P¼3.43Â10 À4 (OR¼1.24 (1.10-1.39)). This SNP maps to an intronic region of the SPATA5 (spermatogenesis-associated protein 5) gene on chromosome 4. The results therefore suggest the SPATA5 locus is a new susceptibility locus for AA.

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“…11,12 Considerable evidence indicates that genetic elements have a significant role in the etiology of AA, as evidenced by the recent identification of a number of suggested susceptibility loci, 13 the high incidence of positive family history in affected individuals 14,15 and high twin concordance rates. [16][17][18][19][20] Many epidemiologic studies have shown a higher prevalence of autoimmune diseases, such as vitiligo, thyroid disease and collagen vascular disease, in AA patients and unaffected relatives (UaR) 21,22 suggesting a genetic predisposition to autoimmunity associated with familial background of AA. 23 These findings imply that systemic disturbances contribute to this T-cell dependent, organ-specific disease.…”

Section: Introductionmentioning

confidence: 99%

Peripheral blood gene expression in alopecia areata reveals molecular pathways distinguishing heritability, disease and severity

Coda¹,

Hysa²,

Seiffert-Sinha³

et al. 2010

Genes Immun

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Alopecia areata (AA) is an autoimmune hair loss disorder in which systemic disturbances have been described, but are poorly understood. To evaluate disease mechanisms, we examined gene expression in the blood of defined clinical subgroups (patchy AA persistent type, AAP, n ¼ 5; alopecia universalis, AU, n ¼ 4) and healthy controls (unaffected relatives, UaR, n ¼ 5; unaffected non-relatives, UaNR, n ¼ 4) using microarrays. Unsupervised hierarchical clustering separates all four patient and control groups, producing three distinct expression patterns reflective of 'inheritance', 'disease' and 'severity' signatures. Functional classification of differentially expressed genes (DEGs) comparing disease (AAP, AU) vs normal (UaR) groups reveals upregulation in immune response, cytokine signaling, signal transduction, cell cycle, proteolysis and cell adhesionrelated genes. Pathway analysis further reveals the activation of several genes related to natural killer-cell cytotoxicity, apoptosis, mitogen activated protein kinase, Wnt signaling and B-and T-cell receptor signaling in AA patients. Finally, 35 genes differentially expressed in AA blood overlap with DEGs previously identified in AA skin lesions. Our results implicate innate and adaptive immune processes while also revealing novel pathways, such as Wnt signaling and apoptosis, relevant to AA pathogenesis. Our data suggest that peripheral blood expression profiles of AA patients likely carry new biomarkers associated with disease susceptibility and expression.

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Alopecia areata and cytomegalovirus infection in twins: Genes versus environment?

Cited by 125 publications

References 44 publications

Cytomegalovirus seropositivity is significantly associated with mycosis fungoides and Sézary syndrome

Cytomegalovirus seropositivity is significantly associated with mycosis fungoides and Sézary syndrome

Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata

Peripheral blood gene expression in alopecia areata reveals molecular pathways distinguishing heritability, disease and severity

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