Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus.

BMC Genomics
Jae-Pil JeonBok-Ghee Han

Abstract

Recent efforts have been made to link complex human traits and disease susceptibility to DNA copy numbers. The leptin receptor (LEPR) has been implicated in obesity and diabetes. Mutations and genetic variations of LEPR gene have been discovered in rodents and humans. However, the association of DNA copy number variations at the LEPR gene locus with human complex diseases has not been reported. In an attempt to study DNA copy number variations associated with metabolic traits and type 2 diabetes mellitus (T2DM), we targeted the LEPR gene locus in DNA copy number analyses. We identified DNA copy number variations at the LEPR gene locus among a Korean population using genome-wide SNP chip data, and then quantified copy numbers of the E2 DNA sequence in the first two exons overlapped between LEPR and LEPROT genes by the quantitative multiplex PCR of short fluorescent fragment (QMPSF) method. Among the non-diabetic subjects (n = 1,067), lower E2 DNA copy numbers were associated with higher fasting glucose levels in men (p = 1.24 x 10(-7)) and women (p = 9.45 x 10(-5)), as well as higher total cholesterol levels in men (p = 9.96 x 10(-7)). In addition, the significant association between lower E2 DNA copy numbers and lower level of ...Continue Reading

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Citations

Oct 1, 2011·Journal of Human Genetics·Suhani H Almal, Harish Padh
Jan 31, 2012·European Journal of Endocrinology·Liansha HuangTonghua Liu
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Methods Mentioned

BETA
PCR
chip
DNA-Chip

Software Mentioned

KoGES
SPSS
QMPSF
Windows
dChip

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