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Article: Identification of igf1, slc4a4, wwox, and sfmbt1 as hypertension susceptibility genes in han chinese with a genome-wide gene-based association study

TitleIdentification of igf1, slc4a4, wwox, and sfmbt1 as hypertension susceptibility genes in han chinese with a genome-wide gene-based association study
Authors
KeywordsAllele
AP3S1 gene
Cardiovascular disease
COMMD7 gene
Csf1 gene
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. 3 How to Cite?
AbstractHypertension is a complex disorder with high prevalence rates all over the world. We conducted the first genome-wide gene-based association scan for hypertension in a Han Chinese population. By analyzing genome-wide single-nucleotide-polymorphism data of 400 matched pairs of young-onset hypertensive patients and normotensive controls genotyped with the Illumina HumanHap550-Duo BeadChip, 100 susceptibility genes for hypertension were identified and also validated with permutation tests. Seventeen of the 100 genes exhibited differential allelic and expression distributions between patient and control groups. These genes provided a good molecular signature for classifying hypertensive patients and normotensive controls. Among the 17 genes, IGF1, SLC4A4, WWOX, and SFMBT1 were not only identified by our gene-based association scan and gene expression analysis but were also replicated by a gene-based association analysis of the Hong Kong Hypertension Study. Moreover, cis-acting expression quantitative trait loci associated with the differentially expressed genes were found and linked to hypertension. IGF1, which encodes insulin-like growth factor 1, is associated with cardiovascular disorders, metabolic syndrome, decreased body weight/size, and changes of insulin levels in mice. SLC4A4, which encodes the electrogenic sodium bicarbonate cotransporter 1, is associated with decreased body weight/size and abnormal ion homeostasis in mice. WWOX, which encodes the WW domain-containing protein, is related to hypoglycemia and hyperphosphatemia. SFMBT1, which encodes the scm-like with four MBT domains protein 1, is a novel hypertension gene. GRB14, TMEM56 and KIAA1797 exhibited highly significant differential allelic and expressed distributions between hypertensive patients and normotensive controls. GRB14 was also found relevant to blood pressure in a previous genetic association study in East Asian populations. TMEM56 and KIAA1797 may be specific to Taiwanese populations, because they were not validated by the two replication studies. Identification of these genes enriches the collection of hypertension susceptibility genes, thereby shedding light on the etiology of hypertension in Han Chinese populations. © 2012 Yang et al.
Persistent Identifierhttp://hdl.handle.net/10722/149135
ISSN
2023 Impact Factor: 2.9
2023 SCImago Journal Rankings: 0.839
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorYang, HCen_HK
dc.contributor.authorLiang, YJen_HK
dc.contributor.authorChen, JWen_HK
dc.contributor.authorChiang, KMen_HK
dc.contributor.authorChung, CMen_HK
dc.contributor.authorHo, HYen_HK
dc.contributor.authorTing, CTen_HK
dc.contributor.authorLin, THen_HK
dc.contributor.authorSheu, SHen_HK
dc.contributor.authorTsai, WCen_HK
dc.contributor.authorChen, JHen_HK
dc.contributor.authorLeu, HBen_HK
dc.contributor.authorYin, WHen_HK
dc.contributor.authorChiu, TYen_HK
dc.contributor.authorChern, CIen_HK
dc.contributor.authorLin, SJen_HK
dc.contributor.authorTomlinson, Ben_HK
dc.contributor.authorGuo, Yen_HK
dc.contributor.authorSham, PCen_HK
dc.contributor.authorCherny, SSen_HK
dc.contributor.authorLam, THen_HK
dc.contributor.authorThomas, Gen_HK
dc.contributor.authorPan, WHen_HK
dc.date.accessioned2012-06-22T06:26:18Z-
dc.date.available2012-06-22T06:26:18Z-
dc.date.issued2012en_HK
dc.identifier.citationPlos One, 2012, v. 7 n. 3en_HK
dc.identifier.issn1932-6203en_HK
dc.identifier.urihttp://hdl.handle.net/10722/149135-
dc.description.abstractHypertension is a complex disorder with high prevalence rates all over the world. We conducted the first genome-wide gene-based association scan for hypertension in a Han Chinese population. By analyzing genome-wide single-nucleotide-polymorphism data of 400 matched pairs of young-onset hypertensive patients and normotensive controls genotyped with the Illumina HumanHap550-Duo BeadChip, 100 susceptibility genes for hypertension were identified and also validated with permutation tests. Seventeen of the 100 genes exhibited differential allelic and expression distributions between patient and control groups. These genes provided a good molecular signature for classifying hypertensive patients and normotensive controls. Among the 17 genes, IGF1, SLC4A4, WWOX, and SFMBT1 were not only identified by our gene-based association scan and gene expression analysis but were also replicated by a gene-based association analysis of the Hong Kong Hypertension Study. Moreover, cis-acting expression quantitative trait loci associated with the differentially expressed genes were found and linked to hypertension. IGF1, which encodes insulin-like growth factor 1, is associated with cardiovascular disorders, metabolic syndrome, decreased body weight/size, and changes of insulin levels in mice. SLC4A4, which encodes the electrogenic sodium bicarbonate cotransporter 1, is associated with decreased body weight/size and abnormal ion homeostasis in mice. WWOX, which encodes the WW domain-containing protein, is related to hypoglycemia and hyperphosphatemia. SFMBT1, which encodes the scm-like with four MBT domains protein 1, is a novel hypertension gene. GRB14, TMEM56 and KIAA1797 exhibited highly significant differential allelic and expressed distributions between hypertensive patients and normotensive controls. GRB14 was also found relevant to blood pressure in a previous genetic association study in East Asian populations. TMEM56 and KIAA1797 may be specific to Taiwanese populations, because they were not validated by the two replication studies. Identification of these genes enriches the collection of hypertension susceptibility genes, thereby shedding light on the etiology of hypertension in Han Chinese populations. © 2012 Yang 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.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectAllele-
dc.subjectAP3S1 gene-
dc.subjectCardiovascular disease-
dc.subjectCOMMD7 gene-
dc.subjectCsf1 gene-
dc.titleIdentification of igf1, slc4a4, wwox, and sfmbt1 as hypertension susceptibility genes in han chinese with a genome-wide gene-based association studyen_HK
dc.typeArticleen_HK
dc.identifier.emailSham, PC: pcsham@hku.hken_HK
dc.identifier.emailCherny, SS: cherny@hku.hken_HK
dc.identifier.authoritySham, PC=rp00459en_HK
dc.identifier.authorityCherny, SS=rp00232en_HK
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1371/journal.pone.0032907en_HK
dc.identifier.pmid22479346-
dc.identifier.pmcidPMC3315540-
dc.identifier.scopuseid_2-s2.0-84859043741en_HK
dc.identifier.hkuros200124en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-84859043741&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume7en_HK
dc.identifier.issue3en_HK
dc.identifier.isiWOS:000304523400009-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridYang, HC=8363972700en_HK
dc.identifier.scopusauthoridLiang, YJ=36071186900en_HK
dc.identifier.scopusauthoridChen, JW=55146491400en_HK
dc.identifier.scopusauthoridChiang, KM=55150094500en_HK
dc.identifier.scopusauthoridChung, CM=55145149600en_HK
dc.identifier.scopusauthoridHo, HY=26649875400en_HK
dc.identifier.scopusauthoridTing, CT=7202187141en_HK
dc.identifier.scopusauthoridLin, TH=34868210000en_HK
dc.identifier.scopusauthoridSheu, SH=7202895031en_HK
dc.identifier.scopusauthoridTsai, WC=7402907734en_HK
dc.identifier.scopusauthoridChen, JH=55146491500en_HK
dc.identifier.scopusauthoridLeu, HB=55151044200en_HK
dc.identifier.scopusauthoridYin, WH=7202298884en_HK
dc.identifier.scopusauthoridChiu, TY=55146309300en_HK
dc.identifier.scopusauthoridChern, CI=55150283400en_HK
dc.identifier.scopusauthoridLin, SJ=7407605154en_HK
dc.identifier.scopusauthoridTomlinson, B=55147264200en_HK
dc.identifier.scopusauthoridGuo, Y=55146070300en_HK
dc.identifier.scopusauthoridSham, PC=34573429300en_HK
dc.identifier.scopusauthoridCherny, SS=7004670001en_HK
dc.identifier.scopusauthoridLam, TH=55146784900en_HK
dc.identifier.scopusauthoridThomas, G=35465269900en_HK
dc.identifier.scopusauthoridPan, WH=35277600800en_HK
dc.identifier.issnl1932-6203-

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