Open AccessDetection 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
Author(s) -
Plengvidhya Nattachet,
Chanprasert Kanjana,
Tangjittipokin Watip,
Thongnoppakhun Wanna,
Yenchitsomanus Pathai
Publication year - 2015
Publication title -
journal of diabetes investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.089
H-Index - 50
eISSN - 2040-1124
pISSN - 2040-1116
DOI - 10.1111/jdi.12341
Subject(s) - medicine , type 2 diabetes , polymerase chain reaction , real time polymerase chain reaction , diabetes mellitus , copy number variation , chromatography , biochemistry , endocrinology , gene , biology , genome , chemistry
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 .