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Conference Paper: ELF1 is associated with systemic lupus erythematosus in Asian populations

TitleELF1 is associated with systemic lupus erythematosus in Asian populations
Other TitlesELF1 is associated with SLE in Asian populations
Authors
Issue Date2010
PublisherThe American Society of Human Genetics.
Citation
The 60th Annual Meeting of American Society of Human Genetics (ASHG 2010), Washington, D.C., 2-6 November 2010. How to Cite?
AbstractGreat progress has been made in revealing the genetic variants that predispose individuals to complex diseases through genome-wide association studies (GWAS). However, the genes discovered so far only explain a small portion of heritability for complex disease such as systemic lupus erythematosus (SLE). Imbalance in the populations studied may have prevented us from identifying the population-specific susceptibility genes. This may be especially true for SLE, which has an apparent population difference in both disease prevalence and severity. Through a multi-stage study including GWAS and replication in several Asian populations, which included a total of 3164 patients and 4482 matched controls, we identified ELF1, an Ets family transcription factor that is involved in T cell development and function, associated with SLE (rs7329174, OR = 1.26, joint P = 1.47X10-8). The SNP also showed more association in patients with renal nephritis comparing to patients without (OR = 1.14, joint P = 0.059). The risk allele for this SNP and other SNPs in LD with rs7329174 has extremely low allele frequencies in populations of European ancestry. Bioinformatics analysis of the ELF1 gene revealed evidence for 3 alternative first exons in a 40 kb region in this gene, indicative of a complex control for its transcription, and SNP rs7379174 was located upstream of the third exon1, E1C. The usage of the 3 distinct first-exons was confirmed in PBMC in all patients and healthy controls examined. Furthermore, a prominent alternative splicing variant coding for a 56 amino acid deletion form of the protein was detected also in both patients and controls, both with abundant expression level. Although direct association of rs7329174 with exon 1 usage or alternative splicing was not established, these findings suggest that ELF1 may play a role in SLE susceptibility and the gene is tightly regulated in expression and alternative splicing.
Persistent Identifierhttp://hdl.handle.net/10722/143403

 

DC FieldValueLanguage
dc.contributor.authorYang, Jen_US
dc.contributor.authorYang, Wen_US
dc.contributor.authorLau, YLen_US
dc.date.accessioned2011-11-24T10:06:34Z-
dc.date.available2011-11-24T10:06:34Z-
dc.date.issued2010en_US
dc.identifier.citationThe 60th Annual Meeting of American Society of Human Genetics (ASHG 2010), Washington, D.C., 2-6 November 2010.en_US
dc.identifier.urihttp://hdl.handle.net/10722/143403-
dc.description.abstractGreat progress has been made in revealing the genetic variants that predispose individuals to complex diseases through genome-wide association studies (GWAS). However, the genes discovered so far only explain a small portion of heritability for complex disease such as systemic lupus erythematosus (SLE). Imbalance in the populations studied may have prevented us from identifying the population-specific susceptibility genes. This may be especially true for SLE, which has an apparent population difference in both disease prevalence and severity. Through a multi-stage study including GWAS and replication in several Asian populations, which included a total of 3164 patients and 4482 matched controls, we identified ELF1, an Ets family transcription factor that is involved in T cell development and function, associated with SLE (rs7329174, OR = 1.26, joint P = 1.47X10-8). The SNP also showed more association in patients with renal nephritis comparing to patients without (OR = 1.14, joint P = 0.059). The risk allele for this SNP and other SNPs in LD with rs7329174 has extremely low allele frequencies in populations of European ancestry. Bioinformatics analysis of the ELF1 gene revealed evidence for 3 alternative first exons in a 40 kb region in this gene, indicative of a complex control for its transcription, and SNP rs7379174 was located upstream of the third exon1, E1C. The usage of the 3 distinct first-exons was confirmed in PBMC in all patients and healthy controls examined. Furthermore, a prominent alternative splicing variant coding for a 56 amino acid deletion form of the protein was detected also in both patients and controls, both with abundant expression level. Although direct association of rs7329174 with exon 1 usage or alternative splicing was not established, these findings suggest that ELF1 may play a role in SLE susceptibility and the gene is tightly regulated in expression and alternative splicing.-
dc.languageengen_US
dc.publisherThe American Society of Human Genetics.-
dc.relation.ispartofAnnual Meeting of American Society of Human Genetics, ASHG 2010-
dc.titleELF1 is associated with systemic lupus erythematosus in Asian populationsen_US
dc.title.alternativeELF1 is associated with SLE in Asian populations-
dc.typeConference_Paperen_US
dc.identifier.emailYang, J: jingy09@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.hkuros185568en_US
dc.identifier.hkuros185569-
dc.publisher.placeUnited States-

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