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Conference Paper: Meta-analysis followed by replication identifies novel genetic variants in X chromosome associated with systemic lupus erythematosus in Asians and analysis of genetic differences between male and female cases

TitleMeta-analysis followed by replication identifies novel genetic variants in X chromosome associated with systemic lupus erythematosus in Asians and analysis of genetic differences between male and female cases
Authors
Issue Date2013
PublisherThe American Society of Human Genetics.
Citation
The 63rd Annual Meeting of the American Society of Human Genetics (ASHG 2013), Boston, MA., 22-26 October 2013. How to Cite?
AbstractSystemic lupus erythematosus (SLE) is an autoimmune disease with a strong genetic component and dramatic gender difference in disease prevalence. Involvement of genetic variants on the X-chromosome in SLE susceptibility, especially in non-European populations, has not been adequately explored. In this study, we aimed at identifying genetic variants on the X chromosome associated with disease susceptibility in Asian populations. Meta-analysis was performed on two genome-wide association studies (GWAS) on SLE on Chinese Han populations, focusing on X chromosome SNPs and female samples at first. The prominent signals were further replicated in three independent cohorts, with a total of 5021 female cases and 5700 matched controls. Furthermore, 355 male cases and 4388 corresponding male controls were also used for replication to explore possible gender differences. Variants in or near PRPS2, NAA10 and TMEM187 were shown to be associated with SLE in Asian populations, surpassing genome-wide significance. In addition, two previously reported loci in European populations, IRAK1 (rs1059702), and MECP2 (rs2734647) were also replicated in our study. We also identified a variant upstream of L1CAM with suggestive association, which showed clear interaction with SNPs in NAA10. Independent contributions of these variants were tested using various methods and clearly independent effect of IRAK1 and MECP2 was demonstrated. This study delineates multiple independent signals towards SLE susceptibility from the X-chromosome in Asian populations, expanding our understanding of the role of X-chromosome variants in SLE susceptibility. A comparison was conducted genome-wide on effect sizes of susceptibility variants between male and female cases, and their implication on the sex differences on SLE prevalence was discussed.
DescriptionThe Meeting abstracts' web site is located at http://www.ashg.org/meetings/meetings_abstract_search.shtml
Persistent Identifierhttp://hdl.handle.net/10722/185074

 

DC FieldValueLanguage
dc.contributor.authorYang, Jen_US
dc.contributor.authorZhang, Yen_US
dc.contributor.authorYang, Wen_US
dc.contributor.authorLau, YLen_US
dc.date.accessioned2013-07-15T10:28:41Z-
dc.date.available2013-07-15T10:28:41Z-
dc.date.issued2013en_US
dc.identifier.citationThe 63rd Annual Meeting of the American Society of Human Genetics (ASHG 2013), Boston, MA., 22-26 October 2013.en_US
dc.identifier.urihttp://hdl.handle.net/10722/185074-
dc.descriptionThe Meeting abstracts' web site is located at http://www.ashg.org/meetings/meetings_abstract_search.shtml-
dc.description.abstractSystemic lupus erythematosus (SLE) is an autoimmune disease with a strong genetic component and dramatic gender difference in disease prevalence. Involvement of genetic variants on the X-chromosome in SLE susceptibility, especially in non-European populations, has not been adequately explored. In this study, we aimed at identifying genetic variants on the X chromosome associated with disease susceptibility in Asian populations. Meta-analysis was performed on two genome-wide association studies (GWAS) on SLE on Chinese Han populations, focusing on X chromosome SNPs and female samples at first. The prominent signals were further replicated in three independent cohorts, with a total of 5021 female cases and 5700 matched controls. Furthermore, 355 male cases and 4388 corresponding male controls were also used for replication to explore possible gender differences. Variants in or near PRPS2, NAA10 and TMEM187 were shown to be associated with SLE in Asian populations, surpassing genome-wide significance. In addition, two previously reported loci in European populations, IRAK1 (rs1059702), and MECP2 (rs2734647) were also replicated in our study. We also identified a variant upstream of L1CAM with suggestive association, which showed clear interaction with SNPs in NAA10. Independent contributions of these variants were tested using various methods and clearly independent effect of IRAK1 and MECP2 was demonstrated. This study delineates multiple independent signals towards SLE susceptibility from the X-chromosome in Asian populations, expanding our understanding of the role of X-chromosome variants in SLE susceptibility. A comparison was conducted genome-wide on effect sizes of susceptibility variants between male and female cases, and their implication on the sex differences on SLE prevalence was discussed.-
dc.languageengen_US
dc.publisherThe American Society of Human Genetics.-
dc.relation.ispartofAnnual Meeting of the American Society of Human Genetics, ASHG 2013en_US
dc.titleMeta-analysis followed by replication identifies novel genetic variants in X chromosome associated with systemic lupus erythematosus in Asians and analysis of genetic differences between male and female casesen_US
dc.typeConference_Paperen_US
dc.identifier.emailYang, J: jingy09@hku.hken_US
dc.identifier.emailZhang, Y: yannizy@hku.hken_US
dc.identifier.emailYang, W: yangwl@hkucc.hku.hken_US
dc.identifier.emailLau, YL: lauylung@hku.hken_US
dc.identifier.authorityYang, W=rp00524en_US
dc.identifier.authorityLau, YL=rp00361en_US
dc.description.naturelink_to_OA_fulltext-
dc.identifier.hkuros215378en_US
dc.publisher.placeUnited States-

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