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Aims/Introduction  A combination of multiple genetic and environmental factors contribute to the pathogenesis of type 2 diabetes. Copy number variations ( CNV s) are associated with complex human diseases. However,  CNV s 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 (  CAPN 10 )  SNP 44 (rs2975760) deviated from  HWE . Here, we aimed to detect  CNV  within the   CAPN 10   SNP 44 region.    Materials and Methods   CNV  within the   CAPN 10   SNP 44 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   CAPN 10   SNP 44 region, obtaining concordant results. Correction of genotype calling based on the status of identified  CNV s showed that the   CAPN 10   SNP 44 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  CNV s for   CAPN 10   SNP 44 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 .

journal of diabetes investigation

Detection of   CAPN 10  copy number variation in Thai patients with type 2 diabetes by denaturing high performance liquid chromatography and real‐time quantitative polymerase chain reaction