Type 2 Diabetes Susceptibility in the Greek-Cypriot Population: Replication of Associations with TCF7L2, FTO, HHEX, SLC30A8 and IGF2BP2 Polymorphisms

Votsi, Christina; Toufexis, C.; Michailidou, Kyriaki; Αντωνιάδης, Άθως; Skordis, Nicos; Karaolis, M.; Pattichis, Constantinos S.; Christodoulou, Kyproula

doi:10.3390/genes8010016

Cited by 27 publications

(22 citation statements)

References 65 publications

(100 reference statements)

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“…However, to the extent of our knowledge, no GWAS study on the SNP in relation to MS has included the Cypriot population in its study (Baranzini et al, 2009;Beecham et al, 2013; Wellcome Trust Case Control Consortium, Australo-Anglo-American Spondylitis Consortium 2007). Interestingly, studies have suggested that the Cypriot population, though of Caucasian origin, presents with a distinct genetic makeup with significant differences from the northern European populations (Loizidou et al, 2011;Novembre et al, 2008;Votsi et al, 2017). Unique genetic features have been also noted by previous studies, one of which revealed considerable differences between the Cypriot community and the Greek and Turkish communities (Baysal et al, 1992;Hadjisavvas et al, 2010).…”

Section: Discussionmentioning

confidence: 81%

Complete sequence analysis of human toll-like receptor 3 gene in natural killer cells of multiple sclerosis patients

Deeba

Koptides

Lambrianides

et al. 2019

Multiple Sclerosis and Related Disorders

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Background: Multiple sclerosis (MS) is a chronic demyelinating disease of the central nervous system (CNS) where both environmental and genetic risk factors play a role. Among the environmental risk factors, EBV and HSV infections have been suggested as strong candidates contributing to MS pathology/progression. Viral recognition and control is largely tasked to the NK cells via TLR recognition and various cytotoxic and immunoregulatory functions. The present work aimed to characterize NK cells isolated from MS patients for genetic polymorphisms in the gene encoding for TLR3, as TLR3 in NK cells is important in herpesvirus recognition. Methods: Highly purified NK cells isolated from peripheral blood of MS patients (n = 27) and healthy controls (n = 30) were used to sequence all five exons of the TLR3 gene using sanger sequencing. Alignment of the obtained sequences with the wild-type TLR3 sequence was used to identify genetic polymorphisms within the TLR3 gene. Results: The alignment identified multiple substitution mutations across the five exons of the TLR3 gene (rs116729895, rs3775296, rs377529, rs3775290, rs3775291, rs376735334 and rs73873710). A significant difference was observed in the allele distribution of rs3775291 (Leu412Phe) between MS patients and HC, whereby the minor allele was detected in 38.9% of MS patients versus 11% of HC (Fisher's exact test, p = 0.021). Conclusion: There appears to be a possible association between the TLR3 missense mutation rs3775291 and multiple sclerosis, which might be attributed to changes in the TLR3 functional properties.

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Section: Discussionmentioning

confidence: 81%

Complete sequence analysis of human toll-like receptor 3 gene in natural killer cells of multiple sclerosis patients

Deeba

Koptides

Lambrianides

et al. 2019

Multiple Sclerosis and Related Disorders

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“…As stated earlier, some polymorphisms are known to be strongly associated with T2DM (Votsi et al, 2017). Some of these variants are in a nearly close position.…”

Section: Introductionmentioning

confidence: 70%

“…Many studies explain the association of the TCF7L2 gene as one of the causes of the T2DM disease. As revealed by the research of Votsi et al (2017), T2DM is associated with five Single Nucleotide Polymorphism (SNP) statistically in the Greek population. rs7901695 TCF7L2 gene is one of the examples of the associated SNP (Votsi et al, 2017).…”

Section: Introductionmentioning

confidence: 99%

Primers Designed For Amplifying TCF7L2 Gen

Syamsurizal¹,

Saputra²,

Putri³

et al. 2020

Biota

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Diabetes Mellitus (DM) is a disease characterized by high glucose levels because of the lack of insulin hormone in the body. Prevalence of Type-2 Diabetes Mellitus is associated with the variant of the TCF7L2 gene polymorphism, or SNP. The purpose of this study was to construct a specific primer to amplify the TCF7L2 gene fragment and their capabilities to detect the targeted area. This research was a descriptive study that design the primers using Geneious software version 5.4.7. The study was conducted at the Laboratory of Genetics and Biotechnology FMIPA Universitas Negeri Padang. Based on this research, a 10qF forward primer (NG_012631.1) and 10qR reverse primers (NG_012631.1) has successfully designed. The primers can amplify the targeted area of the TCF7L2 gene with 1208 bp length. The amplified gene region has many variants that are strictly related to the appearance of Type 2 Diabetes Mellitus.

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“…Type 2 diabetes mellitus (T2DM) is a chronic non infectious disease characterized by glucose metabolism disorder caused by dysregulation of multiple genes and environmental factors [1]. The current studies found that more than one gene were associated with T2DM [2,3].…”

Section: Introductionmentioning

confidence: 75%

“…As suggested by Thakkinstian [9], the optimal model was selected through pairwise comparison among genotypes (CC vs TT , OR 1 Discussion T2DM is a disease caused by multiple genes and environmental factors that contribute to insulin resistance or insufficient insulin secretion [15]. SLC30A8 encodes the Zn 2+ transporter ZnT8, which is responsible for the Zinc supply in pancreatic β cells [4], therefore mutations in this gene sequence may affect the function of β cells and thus increase the risk of T2DM.…”

Section: Selection Of Genetic Modelmentioning

confidence: 99%

Association Between SLC30A8 Gene rs3802177 Polymorphism and T2DM in Asian Population-a Meta-Analysis

Wang¹,

Li²,

Liu³

et al. 2018

dtbh

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Abstract.To further confirm the association between SLC30A8 gene rs3802177 polymorphism and T2DM in Asian population, we collect data from multiple relevant papers and performed Meta-analysis. We constructed allele model, dominant model and recessive model by fixed effects model or random effects models which were determined according to the Q value and I 2 value calculated by heterogeneity test. OR with 95%CI was selected as evaluation index to discuss the influences of SLC30A8 gene rs3802177 polymorphisms on T2DM. The most reasonable genetic model was determined by comparisons between every two genotypes. According to the inclusion and exclusion criteria, a total of five qualified articles were used for data retrieval, which include 6234 cases and 6169 controls. Significant association were found in all the genetic models (C vs T: OR=1.110, 95%CI 1.053-1.169, P<0.001, CC+CT vs TT: OR=1.124, 95%CI 1.018-1.240, P=0.020, CC vs CT +TT: OR=1.153, 95%CI 1.071-1.241, P<0.001), suggesting that the polymorphism of rs3802177 in SLC30A8 gene is associated with the occurrence of T2DM, and the C allele is a risk gene. The results of genotype comparison showed that the most suitable genetic model was recessive model, in which individuals with CC genotypes were 1.153 times more likely to have T2DM than those with CT and TT genotypes. The results suggested SLC30A8 gene rs3802177 polymorphism is associated with type 2 diabetes in Asian population.

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Type 2 Diabetes Susceptibility in the Greek-Cypriot Population: Replication of Associations with TCF7L2, FTO, HHEX, SLC30A8 and IGF2BP2 Polymorphisms

Cited by 27 publications

References 65 publications

Complete sequence analysis of human toll-like receptor 3 gene in natural killer cells of multiple sclerosis patients

Complete sequence analysis of human toll-like receptor 3 gene in natural killer cells of multiple sclerosis patients

Primers Designed For Amplifying TCF7L2 Gen

Association Between SLC30A8 Gene rs3802177 Polymorphism and T2DM in Asian Population-a Meta-Analysis

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