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Article: A genome-wide linkage and association scan reveals novel loci for hypertension and blood pressure traits

TitleA genome-wide linkage and association scan reveals novel loci for hypertension and blood pressure traits
Authors
KeywordsBlood pressure measurement
Chinese
Chromosome 1q
Chromosome 2q
Chromosome 5q
Issue Date2012
PublisherPublic Library of Science. The Journal's web site is located at http://www.plosone.org/home.action
Citation
Plos One, 2012, v. 7 n. 2 How to Cite?
AbstractHypertension is caused by the interaction of environmental and genetic factors. The condition which is very common, with about 18% of the adult Hong Kong Chinese population and over 50% of older individuals affected, is responsible for considerable morbidity and mortality. To identify genes influencing hypertension and blood pressure, we conducted a combined linkage and association study using over 500,000 single nucleotide polymorphisms (SNPs) genotyped in 328 individuals comprising 111 hypertensive probands and their siblings. Using a family-based association test, we found an association with SNPs on chromosome 5q31.1 (rs6596140; P<9×10 -8) for hypertension. One candidate gene, PDC, was replicated, with rs3817586 on 1q31.1 attaining P = 2.5×10 -4 and 2.9×10 -5 in the within-family tests for DBP and MAP, respectively. We also identified regions of significant linkage for systolic and diastolic blood pressure on chromosomes 2q22 and 5p13, respectively. Further family-based association analysis of the linkage peak on chromosome 5 yielded a significant association (rs1605685, P<7×10 -5) for DBP. This is the first combined linkage and association study of hypertension and its related quantitative traits with Chinese ancestry. The associations reported here account for the action of common variants whereas the discovery of linkage regions may point to novel targets for rare variant screening. © 2012 Guo et al.
Persistent Identifierhttp://hdl.handle.net/10722/151766
ISSN
2015 Impact Factor: 3.057
2015 SCImago Journal Rankings: 1.395
PubMed Central ID
ISI Accession Number ID
Funding AgencyGrant Number
Research Grants Council of the Hong Kong Special Administrative Region, ChinaCUHK 4095/00M
CUHK 4438/03M
HKU 7672/06M
Funding Information:

The work described in this paper was supported by grants from the Research Grants Council of the Hong Kong Special Administrative Region, China (Projects no. CUHK 4095/00M, CUHK 4438/03M, HKU 7672/06M). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

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DC FieldValueLanguage
dc.contributor.authorGuo, Yen_HK
dc.contributor.authorTomlinson, Ben_HK
dc.contributor.authorChu, Ten_HK
dc.contributor.authorFang, YJen_HK
dc.contributor.authorGui, Hen_HK
dc.contributor.authorTang, CSMen_HK
dc.contributor.authorYip, BHen_HK
dc.contributor.authorCherny, SSen_HK
dc.contributor.authorHur, YMen_HK
dc.contributor.authorSham, PCen_HK
dc.contributor.authorLam, THen_HK
dc.contributor.authorThomas, NGen_HK
dc.date.accessioned2012-06-26T06:28:04Z-
dc.date.available2012-06-26T06:28:04Z-
dc.date.issued2012en_HK
dc.identifier.citationPlos One, 2012, v. 7 n. 2en_HK
dc.identifier.issn1932-6203en_HK
dc.identifier.urihttp://hdl.handle.net/10722/151766-
dc.description.abstractHypertension is caused by the interaction of environmental and genetic factors. The condition which is very common, with about 18% of the adult Hong Kong Chinese population and over 50% of older individuals affected, is responsible for considerable morbidity and mortality. To identify genes influencing hypertension and blood pressure, we conducted a combined linkage and association study using over 500,000 single nucleotide polymorphisms (SNPs) genotyped in 328 individuals comprising 111 hypertensive probands and their siblings. Using a family-based association test, we found an association with SNPs on chromosome 5q31.1 (rs6596140; P<9×10 -8) for hypertension. One candidate gene, PDC, was replicated, with rs3817586 on 1q31.1 attaining P = 2.5×10 -4 and 2.9×10 -5 in the within-family tests for DBP and MAP, respectively. We also identified regions of significant linkage for systolic and diastolic blood pressure on chromosomes 2q22 and 5p13, respectively. Further family-based association analysis of the linkage peak on chromosome 5 yielded a significant association (rs1605685, P<7×10 -5) for DBP. This is the first combined linkage and association study of hypertension and its related quantitative traits with Chinese ancestry. The associations reported here account for the action of common variants whereas the discovery of linkage regions may point to novel targets for rare variant screening. © 2012 Guo et al.en_HK
dc.languageengen_US
dc.publisherPublic Library of Science. The Journal's web site is located at http://www.plosone.org/home.actionen_HK
dc.relation.ispartofPLoS ONEen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectBlood pressure measurement-
dc.subjectChinese-
dc.subjectChromosome 1q-
dc.subjectChromosome 2q-
dc.subjectChromosome 5q-
dc.titleA genome-wide linkage and association scan reveals novel loci for hypertension and blood pressure traitsen_HK
dc.typeArticleen_HK
dc.identifier.emailCherny, SS: cherny@hku.hken_HK
dc.identifier.emailSham, PC: pcsham@hku.hken_HK
dc.identifier.emailLam, TH: hrmrlth@hkucc.hku.hken_HK
dc.identifier.authorityCherny, SS=rp00232en_HK
dc.identifier.authoritySham, PC=rp00459en_HK
dc.identifier.authorityLam, TH=rp00326en_HK
dc.description.naturepublished_or_final_versionen_US
dc.identifier.doi10.1371/journal.pone.0031489en_HK
dc.identifier.pmid22384028-
dc.identifier.pmcidPMC3286457-
dc.identifier.scopuseid_2-s2.0-84863173053en_HK
dc.identifier.hkuros200125-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-84863173053&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume7en_HK
dc.identifier.issue2en_HK
dc.identifier.isiWOS:000302916800015-
dc.publisher.placeUnited Statesen_HK
dc.relation.projectSNP-based genome-wide screen for susceptibility genes for hypertension: a sibling study-
dc.identifier.scopusauthoridGuo, Y=55146070300en_HK
dc.identifier.scopusauthoridTomlinson, B=55096160700en_HK
dc.identifier.scopusauthoridChu, T=55273190300en_HK
dc.identifier.scopusauthoridFang, YJ=55273153900en_HK
dc.identifier.scopusauthoridGui, H=16645619300en_HK
dc.identifier.scopusauthoridTang, CS=35764635500en_HK
dc.identifier.scopusauthoridYip, BH=16685586100en_HK
dc.identifier.scopusauthoridCherny, SS=7004670001en_HK
dc.identifier.scopusauthoridHur, YM=7006335989en_HK
dc.identifier.scopusauthoridSham, PC=34573429300en_HK
dc.identifier.scopusauthoridLam, TH=7202522876en_HK
dc.identifier.scopusauthoridThomas, NG=36017663800en_HK
dc.identifier.citeulike10501655-

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