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 Goebeler & 13 others Andreas 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 journalArticle

23 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)326-332
Number of pages7
JournalEuropean Journal of Human Genetics
Volume20
Issue number3
Early online date26 Oct 2011
DOIs
Publication statusPublished - Mar 2012
Externally publishedYes

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Alopecia Areata
Spermatogenesis
Single Nucleotide Polymorphism
Genome
Proteins
Chromosomes, Human, Pair 4
Genome-Wide Association Study
Alopecia
Autoimmunity
Autoimmune Diseases
DNA
Research
Genes

Cite this

Forstbauer, L. M., Brockschmidt, F. F., Moskvina, V., Herold, C., Redler, S., Herzog, A., ... Betz, R. C. (2012). Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. European Journal of Human Genetics, 20(3), 326-332. https://doi.org/10.1038/ejhg.2011.185
Forstbauer, Lina M ; Brockschmidt, Felix F ; Moskvina, Valentina ; Herold, Christine ; Redler, Silke ; Herzog, Alexandra ; Hillmer, Axel M ; Meesters, Christian ; Heilmann, Stefanie ; Albert, Florian ; Alblas, Margrieta ; Hanneken, Sandra ; Eigelshoven, Sibylle ; Giehl, Kathrin A ; Jagielska, Dagny ; Blume-Peytavi, Ulrike ; Garcia Bartels, Natalie ; Kuhn, Jennifer ; Hennies, Hans Christian ; Goebeler, Matthias ; Jung, Andreas ; Peitsch, Wiebke K ; Kortüm, Anne-Katrin ; Moll, Ingrid ; Kruse, Roland ; Lutz, Gerhard ; Wolff, Hans ; Blaumeiser, Bettina ; Böhm, Markus ; Kirov, George ; Becker, Tim ; Nöthen, Markus M ; Betz, Regina C. / Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. In: European Journal of Human Genetics. 2012 ; Vol. 20, No. 3. pp. 326-332.
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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.",
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Forstbauer, LM, Brockschmidt, FF, Moskvina, V, Herold, C, Redler, S, Herzog, A, Hillmer, AM, Meesters, C, Heilmann, S, Albert, F, Alblas, M, Hanneken, S, Eigelshoven, S, Giehl, KA, Jagielska, D, Blume-Peytavi, U, Garcia Bartels, N, Kuhn, J, Hennies, HC, Goebeler, M, Jung, A, Peitsch, WK, Kortüm, A-K, Moll, I, Kruse, R, Lutz, G, Wolff, H, Blaumeiser, B, Böhm, M, Kirov, G, Becker, T, Nöthen, MM & Betz, RC 2012, 'Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata', European Journal of Human Genetics, vol. 20, no. 3, pp. 326-332. https://doi.org/10.1038/ejhg.2011.185

Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. / Forstbauer, Lina M; Brockschmidt, Felix F; Moskvina, Valentina; Herold, Christine; Redler, Silke; Herzog, Alexandra; Hillmer, Axel M; Meesters, Christian; Heilmann, Stefanie; Albert, Florian; Alblas, Margrieta; Hanneken, Sandra; Eigelshoven, Sibylle; Giehl, Kathrin A; Jagielska, Dagny; Blume-Peytavi, Ulrike; Garcia Bartels, Natalie; Kuhn, Jennifer; Hennies, Hans Christian; Goebeler, Matthias; Jung, Andreas; Peitsch, Wiebke K; Kortüm, Anne-Katrin; Moll, Ingrid; Kruse, Roland; Lutz, Gerhard; Wolff, Hans; Blaumeiser, Bettina; Böhm, Markus; Kirov, George; Becker, Tim; Nöthen, Markus M; Betz, Regina C.

In: European Journal of Human Genetics, Vol. 20, No. 3, 03.2012, p. 326-332.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata

AU - Forstbauer, Lina M

AU - Brockschmidt, Felix F

AU - Moskvina, Valentina

AU - Herold, Christine

AU - Redler, Silke

AU - Herzog, Alexandra

AU - Hillmer, Axel M

AU - Meesters, Christian

AU - Heilmann, Stefanie

AU - Albert, Florian

AU - Alblas, Margrieta

AU - Hanneken, Sandra

AU - Eigelshoven, Sibylle

AU - Giehl, Kathrin A

AU - Jagielska, Dagny

AU - Blume-Peytavi, Ulrike

AU - Garcia Bartels, Natalie

AU - Kuhn, Jennifer

AU - Hennies, Hans Christian

AU - Goebeler, Matthias

AU - Jung, Andreas

AU - Peitsch, Wiebke K

AU - Kortüm, Anne-Katrin

AU - Moll, Ingrid

AU - Kruse, Roland

AU - Lutz, Gerhard

AU - Wolff, Hans

AU - Blaumeiser, Bettina

AU - Böhm, Markus

AU - Kirov, George

AU - Becker, Tim

AU - Nöthen, Markus M

AU - Betz, Regina C

PY - 2012/3

Y1 - 2012/3

N2 - 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.

AB - 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.

KW - Alleles

KW - Alopecia Areata

KW - Case-Control Studies

KW - Follow-Up Studies

KW - Genetic Loci

KW - Genetic Predisposition to Disease

KW - Genome-Wide Association Study

KW - Genotype

KW - Humans

KW - Polymorphism, Single Nucleotide

KW - Reproducibility of Results

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

UR - https://www.nature.com/ejhg/

U2 - 10.1038/ejhg.2011.185

DO - 10.1038/ejhg.2011.185

M3 - Article

VL - 20

SP - 326

EP - 332

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 3

ER -