0 75

Cited 2 times in

Nonsynonymous Variants in PAX4 and GLP1R Are Associated With Type 2 Diabetes in an East Asian Population

DC FieldValueLanguage
dc.contributor.author이명식-
dc.date.accessioned2018-11-06T16:40:29Z-
dc.date.available2018-11-06T16:40:29Z-
dc.date.issued2018-
dc.identifier.issn0012-1797-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/165069-
dc.description.abstractWe investigated ethnicity-specific exonic variants of type 2 diabetes (T2D) and its related clinical phenotypes in an East Asian population. We performed whole-exome sequencing in 917 T2D case and control subjects, and the findings were validated by exome array genotyping in 3,026 participants. In silico replication was conducted for seven nonsynonymous variants in an additional 13,122 participants. Single-variant and gene-based association tests for T2D were analyzed. A total of 728,838 variants were identified by whole-exome sequencing. Among nonsynonymous variants, PAX4 Arg192His increased risk of T2D and GLP1R Arg131Gln decreased risk of T2D in genome-wide significance (odds ratio [OR] 1.48, P = 4.47 × 10-16 and OR 0.84, P = 3.55 × 10-8, respectively). Another variant at PAX4 192 codon Arg192Ser was nominally associated with T2D (OR 1.62, P = 5.18 × 10-4). In T2D patients, PAX4 Arg192His was associated with earlier age at diagnosis, and GLP1R Arg131Gln was associated with decreased risk of cardiovascular disease. In control subjects without diabetes, the PAX4 Arg192His was associated with higher fasting glucose and GLP1R Arg131Gln was associated with lower fasting glucose and HbA1c level. Gene-based analysis revealed that SLC30A8 was most significantly associated with decreased risk of T2D (P = 1.0 × 10-4). In summary, we have identified nonsynonymous variants associated with risk of T2D and related phenotypes in Koreans.-
dc.description.statementOfResponsibilityrestriction-
dc.languageEnglish-
dc.publisherAmerican Diabetes Association-
dc.relation.isPartOfDiabetes-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAged-
dc.subject.MESHAlleles-
dc.subject.MESHAmino Acid Substitution-
dc.subject.MESHAsian Continental Ancestry Group-
dc.subject.MESHCase-Control Studies-
dc.subject.MESHCohort Studies-
dc.subject.MESHComputational Biology-
dc.subject.MESHDatabases, Genetic-
dc.subject.MESHDiabetes Mellitus, Type 2/genetics*-
dc.subject.MESHDiabetes Mellitus, Type 2/metabolism-
dc.subject.MESHExpert Systems-
dc.subject.MESHFemale-
dc.subject.MESHGene Frequency-
dc.subject.MESHGenetic Association Studies-
dc.subject.MESHGenetic Predisposition to Disease*-
dc.subject.MESHGenetic Variation*-
dc.subject.MESHGenome-Wide Association Study-
dc.subject.MESHGlucagon-Like Peptide-1 Receptor/chemistry-
dc.subject.MESHGlucagon-Like Peptide-1 Receptor/genetics*-
dc.subject.MESHGlucagon-Like Peptide-1 Receptor/metabolism-
dc.subject.MESHHomeodomain Proteins/chemistry-
dc.subject.MESHHomeodomain Proteins/genetics*-
dc.subject.MESHHomeodomain Proteins/metabolism-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMiddle Aged-
dc.subject.MESHPaired Box Transcription Factors/chemistry-
dc.subject.MESHPaired Box Transcription Factors/genetics*-
dc.subject.MESHPaired Box Transcription Factors/metabolism-
dc.subject.MESHPolymorphism, Single Nucleotide*-
dc.subject.MESHRepublic of Korea-
dc.subject.MESHWhole Exome Sequencing-
dc.titleNonsynonymous Variants in PAX4 and GLP1R Are Associated With Type 2 Diabetes in an East Asian Population-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentBioMedical Science Institute (의생명과학부)-
dc.contributor.googleauthorSoo Heon Kwak-
dc.contributor.googleauthorJeesoo Chae-
dc.contributor.googleauthorSeungbok Lee-
dc.contributor.googleauthorSungkyoung Choi-
dc.contributor.googleauthorBo Kyung Koo-
dc.contributor.googleauthorJi Won Yoon-
dc.contributor.googleauthorJin-Ho Park-
dc.contributor.googleauthorBelong Cho-
dc.contributor.googleauthorMin Kyong Moon4-
dc.contributor.googleauthorSoo Lim-
dc.contributor.googleauthorYoung Min Cho-
dc.contributor.googleauthorSanghoon Moon-
dc.contributor.googleauthorYoung Jin Kim-
dc.contributor.googleauthorSohee Han-
dc.contributor.googleauthorMi Yeong Hwang-
dc.contributor.googleauthorYoon Shin Cho-
dc.contributor.googleauthorMyung-Shik Lee-
dc.contributor.googleauthorHak C. Jang-
dc.contributor.googleauthorHyun Min Kang-
dc.contributor.googleauthorTaesung Park-
dc.contributor.googleauthorNam H. Cho-
dc.contributor.googleauthorKyunga Kim-
dc.contributor.googleauthorJong-Il Kim-
dc.contributor.googleauthorKyong Soo Park-
dc.identifier.doi10.2337/db18-0361-
dc.contributor.localIdA02752-
dc.contributor.localIdA02752-
dc.relation.journalcodeJ00718-
dc.identifier.eissn1939-327X-
dc.identifier.pmid29941447-
dc.identifier.urlhttp://diabetes.diabetesjournals.org/content/67/9/1892.long-
dc.contributor.alternativeNameLee, Myung Shik-
dc.contributor.affiliatedAuthor이명식-
dc.citation.volume67-
dc.citation.number9-
dc.citation.startPage1892-
dc.citation.endPage1902-
dc.identifier.bibliographicCitationDiabetes, Vol.67(9) : 1892-1902, 2018-
Appears in Collections:
1. College of Medicine (의과대학) > BioMedical Science Institute (의생명과학부) > 1. Journal Papers

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.