E23K variant in KCNJ11 gene is associated with susceptibility to type 2 diabetes in the Mauritanian population

Abdelhamid, Isselmou; Lasram, Khaled; Meiloud, Ghlana; Kéfi, Rym; Samb, Abdoulaye; Abdelhak, Sonia; Houmeida, Ahmed

doi:10.1016/j.pcd.2013.10.006

Cited by 25 publications

(20 citation statements)

References 20 publications

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“…Despite some reports, which found an association between the E23K polymorphism of Kir6.2 and the development of T2D (Nielsen et al, 2003;Alsmadi et al, 2008;Tabara et al, 2009;Zhou et al, 2009;Abdelhamid et al, 2014), our results showed no association, which was in agreement with other studies (Inoue et al, 1997;Yokoi et al, 2006;Cejková et al, 2007;Cauchi et al, 2008;Keshavarz et al, 2014). The MAF (A-allele) in our study of EuroBrazilians overlaps the 95% confidence interval for several European populations (Table 3), suggesting consistency.…”

Section: Discussionsupporting

confidence: 87%

“…A variant of KCNJ11, known as E23K, results from a G → A transition in codon 23 promoting a substitution of glutamine (E) by lysine (K), Lys23Gln, at the NH 2 -terminal tail of Kir6.2 (Haghvirdizadeh et al, 2015). Association studies of rs5219 have not conclusively connected the polymorphism and susceptibility to T2DM; some studies demonstrated associations (Nielsen et al, 2003;Alsmadi et al, 2008;Tabara et al, 2009;Zhou et al, 2009;Abdelhamid et al, 2014) and others did not confirm this finding (Cauchi et al, 2008;Ezzidi et al, 2009;Nikolac et al, 2009;Neuman et al, 2010;Danquah et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

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Polymorphism E23K (rs5219) in the KCNJ11 gene in Euro-Brazilian subjects with type 1 and 2 diabetes

et al. 2017

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ABSTRACT. Insulin secretion is regulated by ATP-sensitive potassium channels (KATP). The potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) gene, located on chromosome 11p15.1, encodes the subunit Kir6.2 that forms the pore region of KATP channels in pancreatic β-cells. Among the single nucleotide polymorphisms (SNPs) associated with KCNJ11, the E23K polymorphism (rs5219) promotes a substitution (G > A) of a glutamic acid residue for lysine at position 23. The E23K SNP has been associated with diabetes in several populations, although with controversial results. The aim of this study was to evaluate the association of the E23K SNP with type 1 and 2 diabetes in a case-control study approved by the Ethics Committee. We genotyped 458 Euro-Brazilian individuals, classified as healthy (control group, CTRL, N = 217), patients with type 1 diabetes mellitus (T1D, N = 102), and patients with type 2 diabetes mellitus 2 S.W. Souza et al. Genetics and Molecular Research 16 (2): gmr16029543(T2D, N = 139). Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) using BanII restriction digestion. The restriction fragments were separated by polyacrylamide gel electrophoresis and visualized by ethidium bromide staining. The genotype (EE/EK/KK) frequencies (%) for the CTRL group (38.2/50.2/11.6), T1D (34.3/52.0/13.7), and T2D (38.2/48.9/12.9) were in Hardy-Weinberg equilibrium and there were no significant differences (CRTL vs T1D, P = 0.771; CRTL vs T2D, P = 0.937; T1D vs T2D, P = 0.831). The minor allele frequencies (MAF; K) for CTRL (37.0%), T1D (39.7%), and T2D (37.4%) were not different among the groups (P > 0.05). The MAF value for healthy subjects was similar to other Caucasian populations (34.5-37.5%). In summary, the E23K polymorphism (rs5219) was not associated with type 1 or 2 diabetes mellitus in the studied population.

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Section: Discussionsupporting

confidence: 87%

Section: Introductionmentioning

confidence: 99%

Polymorphism E23K (rs5219) in the KCNJ11 gene in Euro-Brazilian subjects with type 1 and 2 diabetes

et al. 2017

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“…For this purpose, we have added results from a Saudi study realized in 2007 [21], the Lebanese participants of the Mtiraoui et al study [20], and a recent Mauritanian study [22] to the two previous Tunisian samples.…”

Section: Resultsmentioning

confidence: 99%

“…Among Arab populations, the results were controversial [19–22]. However, these findings cannot be extrapolated to other populations particularly in the Tunisian population which is made of a mosaic of communities and described as genetically heterogeneous.…”

Section: Introductionmentioning

confidence: 99%

Evidence for Association of the E23K Variant ofKCNJ11Gene with Type 2 Diabetes in Tunisian Population: Population-Based Study and Meta-Analysis

Lasram

Hsouna

Kéfi

et al. 2014

BioMed Research International

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Aims. Genetic association studies have reported the E23K variant of KCNJ11 gene to be associated with Type 2 diabetes. In Arab populations, only four studies have investigated the role of this variant. We aimed to replicate and validate the association between the E23K variant and Type 2 diabetes in Tunisian and Arab populations. Methods. We have performed a case-control association study including 250 Tunisian patients with Type 2 diabetes and 267 controls. Allelic association has also been evaluated by 2 meta-analyses including all population-based studies among Tunisians and Arabs (2 and 5 populations, resp.). Results. A significant association between the E23K variant and Type 2 diabetes was found (OR = 1.6, 95% CI = 1.14–2.27, and P = 0.007). Furthermore, our meta-analysis has confirmed the significant role of the E23K variant in susceptibility of Type 2 diabetes in Tunisian and Arab populations (OR = 1.29, 95% CI = 1.15–1.46, and P < 10−3 and OR = 1.33, 95% CI = 1.13–1.56, and P = 0.001, resp.). Conclusion. Both case-control and meta-analyses results revealed the significant association between the E23K variant of KCNJ11 and Type 2 diabetes among Tunisians and Arabs.

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“…Lysine has a positively charged epsilon-amino group, whereas glutamine is uncharged under all biological conditions. Despite this amino acid substitution, theoretically, it does not make a remarkable change in the structure and function of the KCNJ11 protein 29,93 . Studies have shown, however, that the rs5219 variant may alter the charge of the ATP-binding region and decrease channel sensitivity to ATP.…”

Section: Kcnj11 Common Polymorphisms Involved In Type 2 Diabetes Mellmentioning

confidence: 97%

Role of KCNJ11 Gene Polymorphisms and Risk of Type 2 Diabetes Mellitus

Aktaruzzam¹,

Islam²,

Howlader³

et al. 2015

Pharmacologia

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E23K variant in KCNJ11 gene is associated with susceptibility to type 2 diabetes in the Mauritanian population

Cited by 25 publications

References 20 publications

Polymorphism E23K (rs5219) in the KCNJ11 gene in Euro-Brazilian subjects with type 1 and 2 diabetes

Polymorphism E23K (rs5219) in the KCNJ11 gene in Euro-Brazilian subjects with type 1 and 2 diabetes

Evidence for Association of the E23K Variant ofKCNJ11Gene with Type 2 Diabetes in Tunisian Population: Population-Based Study and Meta-Analysis

Role of KCNJ11 Gene Polymorphisms and Risk of Type 2 Diabetes Mellitus

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