J Korean Med Sci.  2013 Mar;28(3):415-423. 10.3346/jkms.2013.28.3.415.

Combined Genome-Wide Linkage and Association Analyses of Fasting Glucose Level in Healthy Twins and Families of Korea

• Suh YJ
• Kim S
• Kim SH
• Park J
• Lim HA
• Park HJ
• Choi H
• Ng D
• Lee MK
• Nam M

• KMID: 1786940
• DOI: http://doi.org/10.3346/jkms.2013.28.3.415

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 x 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.

Keyword

Fasting Glucose Level; Genome-Wide; Genetic Linkage; PRKCB1; PTPRA

MeSH Terms

Adult
Aged
Asian Continental Ancestry Group/*genetics
Blood Glucose/*genetics
Chromosomes, Human, Pair 15/genetics
Chromosomes, Human, Pair 16/genetics
Chromosomes, Human, Pair 2/genetics
Chromosomes, Human, Pair 20/genetics
Cohort Studies
Family
Female
*Genetic Linkage
*Genome-Wide Association Study
Genotype
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide
Protein Kinase C/genetics
Quantitative Trait Loci
Receptor-Like Protein Tyrosine Phosphatases, Class 4/*genetics
Republic of Korea
Twins, Monozygotic/*genetics
Blood Glucose
Protein Kinase C
Receptor-Like Protein Tyrosine Phosphatases, Class 4

Figure

• 

  Fig. 1 Genome-wide linkage analysis with the FG level.

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