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Article: Linkage and interaction of loci on 1q23 and 16q12 may contribute to susceptibility to systemic lupus erythematosus

TitleLinkage and interaction of loci on 1q23 and 16q12 may contribute to susceptibility to systemic lupus erythematosus
Authors
Issue Date2002
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www.interscience.wiley.com/jpages/0004-3591/
Citation
Arthritis And Rheumatism, 2002, v. 46 n. 11, p. 2928-2936 How to Cite?
AbstractObjective. Six recent genome scans of different systemic lupus erythematosus (SLE) multiplex family cohorts showed multiple putative susceptibility loci. In the present study, we examined 4 previously identified loci to replicate findings of significant linkage to 1q23 and 16q12, and to support findings of suggestive linkage to 14q21-23 and 20p12 in a cohort of 115 multiethnic nuclear families containing 145 SLE-affected sibpairs. Methods. Model-free, multipoint linkage analyses (SIBPAL2, SAGE version 4.0) and exclusion mapping (GeneHunter) were performed. Results. Linkages to 1q23 (peak at D1S2675, mean allele sharing [MAS] 0.56; P = 0.003) and to 16q12 (peaks between D16S753 and D16S757, MAS 0.57; P = 0.003) were confirmed, but linkage evidence at 20p12 was weak and inconsistent (MAS 0.52-0.56; from P = 0.005 to P not significant). Evidence for linkage to 1q23 and 16q12 was stronger in 68 non-Caucasian affected sibpairs than in 77 Caucasian affected sibpairs. Exclusion mapping ruled out linkage at 14q21-23 (λs [sib recurrence risk or genotypic risk ratio] = 1.8). Because the pericentromeric region of chromosome 16 has been identified by genome scans in several autoimmune diseases, we postulated that it might harbor an autoimmune modifier gene. To explore this possibility, we tested for an interaction between 16q12 and 1q23, and between 16q12 and 20p12. Haplotype sharing at 1q23 increased concomitantly with increased haplotype sharing at 16q12 (P = 0.008 by nonparametric Jonckheere-Terpstra exact statistical test). No evidence supporting an interaction between 16q12 and 20p12 was observed. Analysis of sibpairs sharing 2 alleles at 16q12 also showed increased allele sharing at 1q23 (MAS from 0.56 to 0.65). Conclusion. These data support the presence of SLE susceptibility genes at 1q23 and 16q12, particularly in non-Caucasians. The skewed distribution of haplotypes suggests that genetic interaction of these two loci may affect SLE susceptibility.
Persistent Identifierhttp://hdl.handle.net/10722/162642
ISSN
2015 Impact Factor: 8.955
2015 SCImago Journal Rankings: 3.206
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorTsao, BPen_US
dc.contributor.authorCantor, RMen_US
dc.contributor.authorGrossman, JMen_US
dc.contributor.authorKim, SKen_US
dc.contributor.authorStrong, Nen_US
dc.contributor.authorLau, CSen_US
dc.contributor.authorChen, CJen_US
dc.contributor.authorShen, Nen_US
dc.contributor.authorGinzler, EMen_US
dc.contributor.authorGoldstein, Ren_US
dc.contributor.authorKalunian, KCen_US
dc.contributor.authorArnett, FCen_US
dc.contributor.authorWallace, DJen_US
dc.contributor.authorHahn, BHen_US
dc.date.accessioned2012-09-05T05:21:59Z-
dc.date.available2012-09-05T05:21:59Z-
dc.date.issued2002en_US
dc.identifier.citationArthritis And Rheumatism, 2002, v. 46 n. 11, p. 2928-2936en_US
dc.identifier.issn0004-3591en_US
dc.identifier.urihttp://hdl.handle.net/10722/162642-
dc.description.abstractObjective. Six recent genome scans of different systemic lupus erythematosus (SLE) multiplex family cohorts showed multiple putative susceptibility loci. In the present study, we examined 4 previously identified loci to replicate findings of significant linkage to 1q23 and 16q12, and to support findings of suggestive linkage to 14q21-23 and 20p12 in a cohort of 115 multiethnic nuclear families containing 145 SLE-affected sibpairs. Methods. Model-free, multipoint linkage analyses (SIBPAL2, SAGE version 4.0) and exclusion mapping (GeneHunter) were performed. Results. Linkages to 1q23 (peak at D1S2675, mean allele sharing [MAS] 0.56; P = 0.003) and to 16q12 (peaks between D16S753 and D16S757, MAS 0.57; P = 0.003) were confirmed, but linkage evidence at 20p12 was weak and inconsistent (MAS 0.52-0.56; from P = 0.005 to P not significant). Evidence for linkage to 1q23 and 16q12 was stronger in 68 non-Caucasian affected sibpairs than in 77 Caucasian affected sibpairs. Exclusion mapping ruled out linkage at 14q21-23 (λs [sib recurrence risk or genotypic risk ratio] = 1.8). Because the pericentromeric region of chromosome 16 has been identified by genome scans in several autoimmune diseases, we postulated that it might harbor an autoimmune modifier gene. To explore this possibility, we tested for an interaction between 16q12 and 1q23, and between 16q12 and 20p12. Haplotype sharing at 1q23 increased concomitantly with increased haplotype sharing at 16q12 (P = 0.008 by nonparametric Jonckheere-Terpstra exact statistical test). No evidence supporting an interaction between 16q12 and 20p12 was observed. Analysis of sibpairs sharing 2 alleles at 16q12 also showed increased allele sharing at 1q23 (MAS from 0.56 to 0.65). Conclusion. These data support the presence of SLE susceptibility genes at 1q23 and 16q12, particularly in non-Caucasians. The skewed distribution of haplotypes suggests that genetic interaction of these two loci may affect SLE susceptibility.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www.interscience.wiley.com/jpages/0004-3591/en_US
dc.relation.ispartofArthritis and Rheumatismen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshChromosome Mappingen_US
dc.subject.meshChromosomes, Human, Pair 1 - Geneticsen_US
dc.subject.meshChromosomes, Human, Pair 16 - Geneticsen_US
dc.subject.meshChromosomes, Human, Pair 20 - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Linkage - Geneticsen_US
dc.subject.meshGenetic Predisposition To Diseaseen_US
dc.subject.meshHaplotypesen_US
dc.subject.meshHumansen_US
dc.subject.meshLupus Erythematosus, Systemic - Geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.titleLinkage and interaction of loci on 1q23 and 16q12 may contribute to susceptibility to systemic lupus erythematosusen_US
dc.typeArticleen_US
dc.identifier.emailLau, CS:cslau@hku.hken_US
dc.identifier.authorityLau, CS=rp01348en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/art.10590en_US
dc.identifier.pmid12428234-
dc.identifier.scopuseid_2-s2.0-0036846043en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0036846043&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume46en_US
dc.identifier.issue11en_US
dc.identifier.spage2928en_US
dc.identifier.epage2936en_US
dc.identifier.isiWOS:000179239500014-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridTsao, BP=7005956550en_US
dc.identifier.scopusauthoridCantor, RM=35375307600en_US
dc.identifier.scopusauthoridGrossman, JM=7202411114en_US
dc.identifier.scopusauthoridKim, SK=34769852400en_US
dc.identifier.scopusauthoridStrong, N=7003697363en_US
dc.identifier.scopusauthoridLau, CS=14035682100en_US
dc.identifier.scopusauthoridChen, CJ=13612509100en_US
dc.identifier.scopusauthoridShen, N=7102785475en_US
dc.identifier.scopusauthoridGinzler, EM=7003727930en_US
dc.identifier.scopusauthoridGoldstein, R=7403010472en_US
dc.identifier.scopusauthoridKalunian, KC=7003667407en_US
dc.identifier.scopusauthoridArnett, FC=7004819793en_US
dc.identifier.scopusauthoridWallace, DJ=7402643779en_US
dc.identifier.scopusauthoridHahn, BH=7201798489en_US

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