Journal of diabetes investigation

Detection of CAPN10 copy number variation in Thai patients with typexa02 diabetes by denaturing high performance liquid chromatography and real-time quantitative polymerase chain reaction.

PMID 26543536


A combination of multiple genetic and environmental factors contribute to the pathogenesis of typexa02 diabetes. Copy numberxa0variations (CNVs) are associated with complex human diseases. However, CNVs can cause genotype deviationxa0from the Hardy-Weinberg equilibrium (HWE). A genetic case-control association study in 216 Thai diabetic patients and 192 non-diabetic controls found that, after excluding genotyping errors, genotype distribution of calpainxa010 (CAPN10) SNP44 (rs2975760) deviated from HWE. Here, we aimed to detect CNV within the CAPN10 SNP44xa0region. CNV within the CAPN10 SNP44 region was detected using denaturing high-performance liquid chromatography, and the results confirmed by real-time quantitative polymerase chain reaction with SYBR Greenxa0I. Both methods successfully identified CNV in the CAPN10 SNP44 region, obtaining concordant results. Correction of genotype calling based on the status of identified CNVs showed that the CAPN10 SNP44 genotype is in good agreement with HWE (Pxa0>xa00.05). However, no association between CNV genotypes and risk of typexa02 diabetes was observed. Identified CNVs for CAPN10 SNP44 genotypes lead to deviation from HWE. Furthermore, both denaturing high-performance liquid chromatography and real-time quantitative polymerase chain reaction are useful for detecting CNVs.