title: Combined genome-wide linkage and association analyses of fasting glucose level in healthy twins and families of Korea.
abstract: This study was undertaken to identify genetic polymorphisms that are associated with the risk of an elevated fasting glucose (FG) level using genome-wide analyses. We explored a quantitative trait locus (QTL) for FG level in a genome-wide study from a Korean twin-family cohort (the Healthy Twin Study) using a combined linkage and family-based association analysis approach. We investigated 1,754 individuals, which included 432 families and 219 pairs of monozygotic twins. Regions of chromosomes 2q23.3-2q31.1, 15q26.1-15q26.3, 16p12.1, and 20p13-20p12.2, were found to show evidence of linkage with FG level, and several markers in these regions were found to be significantly associated with FG level using family-based or general association tests. In particular, a single-nucleotide polymorphism (rs6138953) on the PTPRA gene in the 20p13 region (combined P = 1.8 × 10(-6)) was found to be associated with FG level, and the PRKCB1 gene (in 16p12.1) to be possibly associated with FG level. In conclusion, multiple regions of chromosomes 2q23.3-2q31.1, 15q26.1-15q26.3, 16p12.1, and 20p13-20p12.2 are associated with FG level in our Korean twin-family cohort. The combined approach of genome-wide linkage and family-based association analysis is useful to identify novel or known genetic regions concerning FG level in a family cohort study.
authors.affiliation: Institute of Clinical Research, Inha University School of Medicine, Incheon, Korea.
authors.forename: Young Ju
authors.initials: YJ
authors.lastname: Suh
authors.forename: Sunghwan
authors.initials: S
authors.lastname: Kim
authors.forename: So Hun
authors.initials: SH
authors.lastname: Kim
authors.forename: Jia
authors.initials: J
authors.lastname: Park
authors.forename: Hyun Ae
authors.initials: HA
authors.lastname: Lim
authors.forename: Hyun Ju
authors.initials: HJ
authors.lastname: Park
authors.forename: Hangseok
authors.initials: H
authors.lastname: Choi
authors.forename: Daniel
authors.initials: D
authors.lastname: Ng
authors.forename: Mi Kyeong
authors.initials: MK
authors.lastname: Lee
authors.forename: Moonsuk
authors.initials: M
authors.lastname: Nam
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D001786:Blood Glucose / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D015331:Cohort Studies; D005190:Family; D005260:Female; D008040:Genetic Linkage; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011493:Protein Kinase C / Q000235:genetics; D064546:Protein Kinase C beta; D040641:Quantitative Trait Loci; D054630:Receptor-Like Protein Tyrosine Phosphatases, Class 4 / Q000235:genetics*; D056910:Republic of Korea; D014430:Twins, Monozygotic / Q000235:genetics*
chemical_list: D001786:Blood Glucose; C579054:PRKCB protein, human; D011493:Protein Kinase C; D064546:Protein Kinase C beta; C516841:PTPRA protein, human; D054630:Receptor-Like Protein Tyrosine Phosphatases, Class 4
keywords: Fasting Glucose Level; Genetic Linkage; Genome-Wide; PRKCB1; PTPRA