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

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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; Natalie, Garcia Bartels; 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: EUR J HUM GENET, Vol. 20, No. 3, 3, 2012, p. 326-332.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

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, Natalie, GB, 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.', EUR J HUM GENET, vol. 20, no. 3, 3, pp. 326-332. <http://www.ncbi.nlm.nih.gov/pubmed/22027810?dopt=Citation>

APA

Forstbauer, L. M., Brockschmidt, F. F., Moskvina, V., Herold, C., Redler, S., Herzog, A., Hillmer, A. M., Meesters, C., Heilmann, S., Albert, F., Alblas, M., Hanneken, S., Eigelshoven, S., Giehl, K. A., Jagielska, D., Blume-Peytavi, U., Natalie, G. B., Kuhn, J., Hennies, H. C., ... Betz, R. C. (2012). Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. EUR J HUM GENET, 20(3), 326-332. [3]. http://www.ncbi.nlm.nih.gov/pubmed/22027810?dopt=Citation

Vancouver

Forstbauer LM, Brockschmidt FF, Moskvina V, Herold C, Redler S, Herzog A et al. Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. EUR J HUM GENET. 2012;20(3):326-332. 3.

Bibtex

@article{0a597455e012447094b2471dd62b6477,
title = "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.",
author = "Forstbauer, {Lina M} and Brockschmidt, {Felix F} and Valentina Moskvina and Christine Herold and Silke Redler and Alexandra Herzog and Hillmer, {Axel M} and Christian Meesters and Stefanie Heilmann and Florian Albert and Margrieta Alblas and Sandra Hanneken and Sibylle Eigelshoven and Giehl, {Kathrin A} and Dagny Jagielska and Ulrike Blume-Peytavi and Natalie, {Garcia Bartels} and Jennifer Kuhn and Hennies, {Hans Christian} and Matthias Goebeler and Andreas Jung and Peitsch, {Wiebke K} and Anne-Katrin Kort{\"u}m and Ingrid Moll and Roland Kruse and Gerhard Lutz and Hans Wolff and Bettina Blaumeiser and Markus B{\"o}hm and George Kirov and Tim Becker and N{\"o}then, {Markus M} and Betz, {Regina C}",
year = "2012",
language = "English",
volume = "20",
pages = "326--332",
journal = "EUR J HUM GENET",
issn = "1018-4813",
publisher = "NATURE PUBLISHING GROUP",
number = "3",

}

RIS

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 - Natalie, Garcia Bartels

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

Y1 - 2012

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.

M3 - SCORING: Journal article

VL - 20

SP - 326

EP - 332

JO - EUR J HUM GENET

JF - EUR J HUM GENET

SN - 1018-4813

IS - 3

M1 - 3

ER -