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

<jats:title>Abstract</jats:title><jats:sec><jats:title>Aims/Introduction</jats:title><jats:p>A combination of multiple genetic and environmental factors contribute to the pathogenesis of type 2 diabetes. Copy number variations (<jats:styled-content style="fixed-case">CNV</jats:styled-content>s) are associated with complex human diseases. However, <jats:styled-content style="fixed-case">CNV</jats:styled-content>s can cause genotype deviation from the Hardy–Weinberg equilibrium (<jats:styled-content style="fixed-case">HWE</jats:styled-content>). 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 (<jats:italic><jats:styled-content style="fixed-case">CAPN</jats:styled-content>10</jats:italic>) <jats:styled-content style="fixed-case">SNP</jats:styled-content>44 (rs2975760) deviated from <jats:styled-content style="fixed-case">HWE</jats:styled-content>. Here, we aimed to detect <jats:styled-content style="fixed-case">CNV</jats:styled-content> within the <jats:italic><jats:styled-content style="fixed-case">CAPN</jats:styled-content>10 </jats:italic><jats:styled-content style="fixed-case">SNP</jats:styled-content>44 region.</jats:p></jats:sec><jats:sec><jats:title>Materials and Methods</jats:title><jats:p><jats:styled-content style="fixed-case">CNV</jats:styled-content> within the <jats:italic><jats:styled-content style="fixed-case">CAPN</jats:styled-content>10 </jats:italic><jats:styled-content style="fixed-case">SNP</jats:styled-content>44 region was detected using denaturing high‐performance liquid chromatography, and the results confirmed by real‐time quantitative polymerase chain reaction with <jats:styled-content style="fixed-case">SYBR</jats:styled-content> Green I.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Both methods successfully identified <jats:styled-content style="fixed-case">CNV</jats:styled-content> in the <jats:italic><jats:styled-content style="fixed-case">CAPN</jats:styled-content>10 </jats:italic><jats:styled-content style="fixed-case">SNP</jats:styled-content>44 region, obtaining concordant results. Correction of genotype calling based on the status of identified <jats:styled-content style="fixed-case">CNV</jats:styled-content>s showed that the <jats:italic><jats:styled-content style="fixed-case">CAPN</jats:styled-content>10 </jats:italic><jats:styled-content style="fixed-case">SNP</jats:styled-content>44 genotype is in good agreement with <jats:styled-content style="fixed-case">HWE</jats:styled-content> (<jats:italic>P </jats:italic>> 0.05). However, no association between <jats:styled-content style="fixed-case">CNV</jats:styled-content> genotypes and risk of type 2 diabetes was observed.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>Identified <jats:styled-content style="fixed-case">CNV</jats:styled-content>s for <jats:italic><jats:styled-content style="fixed-case">CAPN</jats:styled-content>10 </jats:italic><jats:styled-content style="fixed-case">SNP</jats:styled-content>44 genotypes lead to deviation from <jats:styled-content style="fixed-case">HWE</jats:styled-content>. Furthermore, both denaturing high‐performance liquid chromatography and real‐time quantitative polymerase chain reaction are useful for detecting <jats:styled-content style="fixed-case">CNVs</jats:styled-content>.</jats:p></jats:sec>