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

Lina M Forstbauer, Felix F Brockschmidt, Valentina Moskvina, Christine Herold, Silke Redler, Alexandra Herzog, Axel M Hillmer, Christian Meesters, Stefanie Heilmann, Florian Albert, Margrieta Alblas, Sandra Hanneken, Sibylle Eigelshoven, Kathrin A Giehl, Dagny Jagielska, Ulrike Blume-Peytavi, Natalie Garcia Bartels, Jennifer Kuhn, Hans Christian Hennies, Matthias GoebelerAndreas Jung, Wiebke K Peitsch, Anne-Katrin Kortüm, Ingrid Moll, Roland Kruse, Gerhard Lutz, Hans Wolff, Bettina Blaumeiser, Markus Böhm, George Kirov, Tim Becker, Markus M Nöthen, Regina C Betz

Research output: Contribution to journalArticlepeer-review

45 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)326-332
Number of pages7
JournalEuropean Journal of Human Genetics
Issue number3
Early online date26 Oct 2011
Publication statusPublished - Mar 2012
Externally publishedYes


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