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

Cited 2 time in Web of Science Cited 3 time in Scopus
Authors
Moon, Sanghoon; Lee, Young; Won, Sungho; Lee, Juyoung
Issue Date
2018-11-01
Publisher
BioMed Central
Citation
Human Genomics, 12(1):48
Keywords
Multiple variantsMultiple traitsMetabolic syndrome11q23.3SIDT2
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.
ISSN
1479-7364
Language
English
URI
https://hdl.handle.net/10371/146883
DOI
https://doi.org/10.1186/s40246-018-0180-4
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Graduate School of Public Health (보건대학원)Dept. of Public Health (보건학과)Journal Papers (저널논문_보건학과)
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