title: Detection of CAPN10 copy number variation in Thai patients with type 2 diabetes by denaturing high performance liquid chromatography and real-time quantitative polymerase chain reaction.
abstract: OBJECTIVE
  A combination of multiple genetic and environmental factors contribute to the pathogenesis of type 2 diabetes. Copy number variations (CNVs) are associated with complex human diseases. However, CNVs can cause genotype deviation from 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 calpain 10 (CAPN10) SNP44 (rs2975760) deviated from HWE. Here, we aimed to detect CNV within the CAPN10 SNP44 region.
  
  
  METHODS
  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 Green I.
  
  
  RESULTS
  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 (P > 0.05). However, no association between CNV genotypes and risk of type 2 diabetes was observed.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Endocrinology and Metabolism, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University Bangkok, Thailand.
authors.forename: Nattachet
authors.initials: N
authors.lastname: Plengvidhya
authors.affiliation: Department of Immunology, Faculty of Medicine Siriraj Hospital, Mahidol University Bangkok, Thailand.
authors.forename: Kanjana
authors.initials: K
authors.lastname: Chanprasert
authors.affiliation: Department of Immunology, Faculty of Medicine Siriraj Hospital, Mahidol University Bangkok, Thailand.
authors.forename: Watip
authors.initials: W
authors.lastname: Tangjittipokin
authors.affiliation: Division of Molecular Genetics, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University Bangkok, Thailand.
authors.forename: Wanna
authors.initials: W
authors.lastname: Thongnoppakhun
authors.affiliation: Division of Molecular Medicine, Departments of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University Bangkok, Thailand.
authors.forename: Pa-Thai
authors.initials: PT
authors.lastname: Yenchitsomanus
keywords: CAPN10; Copy number variations; Denaturing high-performance liquid chromatography