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Multiple genotype–phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population
DC Field | Value | Language |
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dc.contributor.author | Moon, Sanghoon | - |
dc.contributor.author | Lee, Young | - |
dc.contributor.author | Won, Sungho | - |
dc.contributor.author | Lee, Juyoung | - |
dc.date.accessioned | 2019-03-07T05:32:56Z | - |
dc.date.available | 2019-03-07T14:34:29Z | - |
dc.date.issued | 2018-11-01 | - |
dc.identifier.citation | Human Genomics, 12(1):48 | ko_KR |
dc.identifier.issn | 1479-7364 | - |
dc.identifier.uri | https://hdl.handle.net/10371/146883 | - |
dc.description.abstract | Background
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.sponsorship | This 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.iso | en | ko_KR |
dc.publisher | BioMed Central | ko_KR |
dc.subject | Multiple variants | ko_KR |
dc.subject | Multiple traits | ko_KR |
dc.subject | Metabolic syndrome | ko_KR |
dc.subject | 11q23.3 | ko_KR |
dc.subject | SIDT2 | ko_KR |
dc.title | Multiple genotype–phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 문상훈 | - |
dc.contributor.AlternativeAuthor | 이영 | - |
dc.contributor.AlternativeAuthor | 원승호 | - |
dc.contributor.AlternativeAuthor | 이주용 | - |
dc.identifier.doi | 10.1186/s40246-018-0180-4 | - |
dc.language.rfc3066 | en | - |
dc.rights.holder | The Author(s). | - |
dc.date.updated | 2018-11-04T04:55:48Z | - |
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