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

ABSTRACT: 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 P=3.43 × 10(-4) (OR=1.24 (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.

SUBMITTER: Forstbauer LM

PROVIDER: S-EPMC3283178 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature

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

Forstbauer Lina M LM Brockschmidt Felix F FF Moskvina Valentina V Herold Christine C Redler Silke S Herzog Alexandra A Hillmer Axel M AM Meesters Christian C Heilmann Stefanie S Albert Florian F Alblas Margrieta M Hanneken Sandra S Eigelshoven Sibylle S Giehl Kathrin A KA Jagielska Dagny D Blume-Peytavi Ulrike U Garcia Bartels Natalie N Kuhn Jennifer J Hennies Hans Christian HC Goebeler Matthias M Jung Andreas A Peitsch Wiebke K WK Kortüm Anne-Katrin AK Moll Ingrid I Kruse Roland R Lutz Gerhard G Wolff Hans H Blaumeiser Bettina B Böhm Markus M Kirov George G Becker Tim T Nöthen Markus M MM Betz Regina C RC

European journal of human genetics : EJHG 20111026 3

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 ...[more]

PMID: 22027810

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Project description:IntroductionIndividuals with alopecia areata (AA) may experience significant impacts on their health-related quality of life. The novel Alopecia Areata Patient Priority Outcomes (AAPPO) questionnaire has been developed to assess hair loss signs, emotional symptoms, and activity limitations associated with AA. The objective of this study was to evaluate psychometric properties and establish scoring of the AAPPO in adults and adolescents with AA.MethodsScoring and measurement properties of the AAPPO were examined using baseline and 2-week follow-up data from a prospective, noninterventional, web-based study of 121 patients with AA (85 adults aged ≥ 18 years, 36 adolescents aged 12-17 years) with Severity of Alopecia Tool (SALT) ≥ 25% scalp hair loss.ResultsExploratory and confirmatory factor analysis supported four single Hair Loss (HL) items, an Emotional Symptoms domain (ES; 4 items), and an Activity Limitations domain (AL; 3 items). Among all patients, the multi-item ES and AL domains had strong internal consistency (α ≥ 0.87); all HL items and domain scores had strong test-retest reliability (weighted kappa or intraclass correlation coefficients ≥ 0.78). All HL item scores demonstrated strong construct validity (r ≥ 0.52) compared with the patient-reported Alopecia Areata Symptom and Impact Scale (AASIS) hair loss subscale score; ES and AL domain scores exhibited strong construct validity (r ≥ 0.66) compared with the SF-36 Mental Component Summary (MCS) score. Using SALT scores, HL mean item scores were better (lower) in the 25-49% SALT subgroup versus those with highest SALT scores (76-100%); however, ES mean domain scores were better in the SALT 76-100% subgroup in the same comparison (p < 0.0001). Using AASIS and MCS score-created subgroups, ES and AL mean domain scores demonstrated hypothesized differences across subgroups (all p values < 0.0001).ConclusionThe AAPPO questionnaire is a reliable, valid disease-specific measure of hair loss severity and impact in individuals with AA.

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

Publications

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

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