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Multiple genotype–phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population

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dc.contributor.authorMoon, Sanghoon-
dc.contributor.authorLee, Young-
dc.contributor.authorWon, Sungho-
dc.contributor.authorLee, Juyoung-
dc.date.accessioned2019-03-07T05:32:56Z-
dc.date.available2019-03-07T14:34:29Z-
dc.date.issued2018-11-01-
dc.identifier.citationHuman Genomics, 12(1):48ko_KR
dc.identifier.issn1479-7364-
dc.identifier.urihttps://hdl.handle.net/10371/146883-
dc.description.abstractBackground
Metabolic syndrome is a risk factor for type 2 diabetes and cardiovascular disease. We identified common genetic variants that alter the risk for metabolic syndrome in the Korean population. To isolate these variants, we conducted a multiple-genotype and multiple-phenotype genome-wide association analysis using the family-based quasi-likelihood score (MFQLS) test. For this analysis, we used 7211 and 2838 genotyped study subjects for discovery and replication, respectively. We also performed a multiple-genotype and multiple-phenotype analysis of a gene-based single-nucleotide polymorphism (SNP) set.

Results
We found an association between metabolic syndrome and an intronic SNP pair, rs7107152 and rs1242229, in SIDT2 gene at 11q23.3. Both SNPs correlate with the expression of SIDT2 and TAGLN, whose products promote insulin secretion and lipid metabolism, respectively. This SNP pair showed statistical significance at the replication stage.

Conclusions
Our findings provide insight into an underlying mechanism that contributes to metabolic syndrome.
ko_KR
dc.description.sponsorshipThis work was funded by intramural grants from the Korean National Institute of Health (2013-NG73002-00, 2016-NI73005-00) and supported by the Basic Science Research Program through the National Research Foundation of Korea Grant funded by the Korean Government (NRF-2014S1A2A2028559). Data were also provided by the Korean Genome Analysis Project (4845-301) and the National Biobank of Korea, which were supported by the Korea Center for Disease Control and Prevention, Republic of Korea.ko_KR
dc.language.isoenko_KR
dc.publisherBioMed Centralko_KR
dc.subjectMultiple variantsko_KR
dc.subjectMultiple traitsko_KR
dc.subjectMetabolic syndromeko_KR
dc.subject11q23.3ko_KR
dc.subjectSIDT2ko_KR
dc.titleMultiple genotype–phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean populationko_KR
dc.typeArticleko_KR
dc.contributor.AlternativeAuthor문상훈-
dc.contributor.AlternativeAuthor이영-
dc.contributor.AlternativeAuthor원승호-
dc.contributor.AlternativeAuthor이주용-
dc.identifier.doi10.1186/s40246-018-0180-4-
dc.language.rfc3066en-
dc.rights.holderThe Author(s).-
dc.date.updated2018-11-04T04:55:48Z-
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