Abstract
BackgroundT2DM is a polygenic, metabolic complex and multifactorial disease. Several genes contribute to risk of type 2 diabetes and metabolic syndrome among different populations.ResultsAn relationship between three identified CAPN-10 variants [SNP-43 (rs#3792267), SNP-19 (rs#3842570) and SNP-63 (rs#5030952)] localized on 2q37 and type 2 diabetic patients with and without metabolic syndrome (MS) have been reported in our comparative study (diabetic vs health control individuals). Genotyping of study cohorts was carried out using restriction fragment length polymorphism (RFLP-PCR). Statistical analysis of data reveals that the haplotype combination 111/112 confers a significant risk for type 2 diabetes mellitus (T2DM). Patients with the homozygous haplotype combination of 122/122 are less susceptible to MS when compared to other patients carrying other haplotype combinations. Regarding obesity, a core component in MS, the haplotype combinations 111/121 and 122/122 demonstrate a significant protective role. Furthermore, the haplotype combination 111/111 displays a significant risk for high levels of total cholesterol.ConclusionPresent 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 T2DM and MS among Egyptians when compared to other haplotype combinations reported in other populations of different ethnicity. To enhance the power of human evolution control nowadays, mutations and polymorphisms in target genes associated with human diseases should be well understood.
Highlights
type 2 diabetes mellitus (T2DM) is a polygenic, metabolic complex and multifactorial disease
We examine the role of three intronic calpain 10 (CAPN10) SNPs [SNP-43 at intron-3, SNP-19 at intron-6 and SNP-63 at intron-13] at the level of genotype, haplotype and haplotype combination in relation to genetic susceptibility to both T2DM and metabolic syndrome (MS) among Egyptians
Role of CAPN10 variants in obesity, hypertension, hypertriglyceridemia, total cholesterol, HDL‐c and LDL‐c The present study extends to investigate the role of the three CAPN10 variants in different clinical and biochemical parameters including
Summary
T2DM is a polygenic, metabolic complex and multifactorial disease. Several genes contribute to risk of type 2 diabetes and metabolic syndrome among different populations. T2DM is a polygenic, metabolic complex and multifactorial disease, influenced by both genetic and non-genetic factors [1]. It is characterized by impaired insulin secretion, decreased insulin sensitivity in peripheral tissues, and increased hepatic glucose production [2]. Genome-wide association studies (GWAs) have identified several genes contributing to T2DM predisposition including gene encoding calpain 10 (CAPN10) [4]. It is located on chromosome 2q37.3, comprises 15 exons spanning 31 kb and encodes a 672 amino acids intracellular protease [5]. Calpain is a member of calpain superfamily which are non-lysosomal neutral cytoplasmic cysteine proteases requiring calcium ions for activity [6]
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