Shaymaa Wagdy, Heba Kasem, Amira M. Embaby, Abir Adel, Medhat Haroun and Nader Mowafy

Institute of Graduate Studies and Research, Biotechnology Department, University of Alexandria, Egypt

Abstract:

This study defines three CAPN-10 variants [SNP-43 (rs#3792267), SNP-19 (rs#3842570) and  SNP-63 (rs#5030952)]  localized on chromosome 2q37 among diabetic patients with and without metabolic syndrome (MS) along with healthy individuals (a case-control study). Genomic DNA was isolated from whole blood for CAPN10 genotyping. Three separate PCRs were carried out to amplify three partial fragments of CAPN10 containing the aforementioned SNPs. PCR-RFLP was carried out to genotype SNP-43 and -63.  However, SNP -19 (Ins /Del) was genotyped directly through determining the number of obtained repeats in PCR products after visualization on 3% agarose gels. Statistical analysis of data reveal that there are no significant differences (p> 0.05) in both allelic and genotypic frequencies either among diabetic and healthy individuals or among patients with and without metabolic syndrome. Interestingly, the present study suggested that the haplotype combination 111/112 confers a high risk for type 2 diabetes mellitus (OR= 10.15, 95% CI 1.2-225, p=0.011). Patients with the 122 as a haplotype and  homozygous haplotype combination 122/122 are less susceptible to MS and obesity when compared to those with other haplotype combinations.  In addition, the haplotype combination 111/121 demonstrate a protective role against obesity (p= 0.009). Conversely, patients with the haplotype combination 111/111 display a significant risk for high levels of total cholesterol (p=0.047). The present findings address that these haplotype combinations 111/112, 111/121 and 122/122  of CAPN-10 SNP-43, -19 and -63 constitute unique DNA biomarker fingerprints toward susceptibility and risk for type 2 diabetes mellitus and metabolic syndrome among Egyptians when compared to other haplotype combinations reported in other populations of different ethnicity.