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Ethnic specificity of lupus-associated loci identified in a genome-wide association study in Korean women.

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dc.contributor.authorLee, HS-
dc.contributor.authorKim, T-
dc.contributor.authorBang, SY-
dc.contributor.authorNa, YJ-
dc.contributor.authorKim, I-
dc.contributor.authorKim, K-
dc.contributor.authorKim, JH-
dc.contributor.authorChung, YJ-
dc.contributor.authorShin, HD-
dc.contributor.authorKang, YM-
dc.contributor.authorShim, SC-
dc.contributor.authorSuh, CH-
dc.contributor.authorPark, YB-
dc.contributor.authorKim, JS-
dc.contributor.authorKang, C-
dc.contributor.authorBae, SC-
dc.date.accessioned2016-10-06T01:58:06Z-
dc.date.available2016-10-06T01:58:06Z-
dc.date.issued2014-
dc.identifier.issn0003-4967-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/12604-
dc.description.abstractOBJECTIVES: To identify novel genetic candidates for systemic lupus erythematosus

(SLE) in the Korean population, and to validate the risk loci for SLE identified

in previous genome-wide association studies (GWAS). METHODS: We performed a GWAS

in 400 Korean female SLE patients and 445 controls. Selected single-nucleotide

polymorphisms (SNP) were then replicated in an independent cohort of 385 SLE

patients and 583 controls (replication cohort 1), and in a further 811 SLE

patients and 1502 controls (replication cohort 2). RESULTS: In the GWAS phase,

rs9275428 located near HLA-DQB1 showed the strongest association with SLE (OR

0.50, false discovery rate (FDR) p=3.07x10(-6)). Although no loci reached

genome-wide significance outside major histocompatibility complex (MHC),

C8orf13-BLK, STAT4, CSMD1, DIAPH3, GLDC and TNFSF4 showed FDR p < 0.05. Our

results suggest that STAT4, BLK, IRF5, PTTG1-miR-146a, UBE2L3 and TNFAIP3 are

shared susceptibility loci among Caucasians and Asians, while ETS1, IKZF1,

SLC15A4 are likely to be Asian-specific loci. In a combined analysis of 1596 SLE

patients and 2540 controls for selected 22 candidate SNP, STAT4 and BLK as

positive controls showed a strong association with SLE (FDR p=9.85x10(-13) and

2.28x10(-8), respectively). Of these, 16 candidates (PEX5L, TRAJ50, MYO18B, SOS1,

ARHGAP26, SMURF1, CADPS, HAND1, FAM78B, DIAPH3, TBL1XR1, CSMD1, ZBTB20, C3orf21,

HIPK1 and AP001042.1) showed only nominal significance (7.05x10(-4)
p
susceptibility for SLE between Caucasian and Asian ethnic groups. Although 16

putative novel loci for SLE have been suggested in the Korean population, further

research on a larger sample is required to discriminate truth from error.
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dc.language.isoen-
dc.subject.MESHAsian Continental Ancestry Group-
dc.subject.MESHCohort Studies-
dc.subject.MESHEuropean Continental Ancestry Group-
dc.subject.MESHGenetic Predisposition to Disease-
dc.subject.MESHGenome-Wide Association Study-
dc.subject.MESHLupus Erythematosus, Systemic-
dc.subject.MESHPolymorphism, Single Nucleotide-
dc.subject.MESHRepublic of Korea-
dc.subject.MESHSex Factors-
dc.subject.MESHYoung Adult-
dc.titleEthnic specificity of lupus-associated loci identified in a genome-wide association study in Korean women.-
dc.typeArticle-
dc.identifier.pmid23740238-
dc.identifier.urlhttp://ard.bmj.com/content/73/6/1240.long-
dc.contributor.affiliatedAuthor서, 창희-
dc.type.localJournal Papers-
dc.identifier.doi10.1136/annrheumdis-2012-202675-
dc.citation.titleAnnals of the rheumatic diseases-
dc.citation.volume73-
dc.citation.number6-
dc.citation.date2014-
dc.citation.startPage1240-
dc.citation.endPage1245-
dc.identifier.bibliographicCitationAnnals of the rheumatic diseases, 73(6). : 1240-1245, 2014-
dc.identifier.eissn1468-2060-
dc.relation.journalidJ000034967-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Rheumatology
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