Possible association between ABCC8 C49620T polymorphism and type 2 diabetes in a Nigerian population

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Abstract

Background

The association between ABCC8 gene C49620T polymorphism and type 2 diabetes (T2D) in populations of diverse ethnic backgrounds has been reported. However, such occurrence in an African population is yet to be established. This case-control study involving 73 T2D and 75 non-diabetic (ND) patients investigated the occurrence of this polymorphism among T2D patients in Nigeria and assessed its relationship with body lipids of patients.

Methods

Demographic and clinical characteristics of patients were collected and lipid profile indices including total cholesterol (TC), triglyceride (TG), low density lipoprotein (LDL) and high density lipoprotein (HDL) were assayed. Restriction fragment length polymorphism-PCR (RFLP-PCR) was employed to genotype the ABCC8-C49620T polymorphism using PstI restriction enzyme.

Results

This study revealed significantly ( p < 0.05) higher prevalence of the T allele of the ABCC8 gene in T2D patients (33.1%) compared to ND patients (28.0%). The mutant TT genotype was also higher than the CC and CT genotypes in T2D patients compared to ND patients but did not show any significant risk ( p>0.05) of T2D for the unadjusted codominant, dominant and recessive models. Following age adjustment, the mutant genotypes (CT and TT) showed significant ( p<0.05) risk of T2D for all the models with the recessive model presenting the greatest risk of T2D (OR: 2.39, 95% CI: 1.16-4.91, p<0.018). The TT genotype significantly ( p<0.05) associated with high level of HDL and reduced levels of TC, TG and LDL in non-diabetic patients but was not associated with any of the demographic and clinical characteristics among T2D patients.

Conclusions

ABCC8 C49620T polymorphism showed possible association with T2D marked by predominance of the mutant TT genotype in T2D patients. However, the relationship between TT genotype and lipid abnormalities for possible beneficial effect on people suffering from T2D is unclear.

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How to Calculate Sample Size for Different Study Designs in Medical Research?

Jaykaran Charan, Tamoghna Biswas (2013)

Calculation of exact sample size is an important part of research design. It is very important to understand that different study design need different method of sample size calculation and one formula cannot be used in all designs. In this short review we tried to educate researcher regarding various method of sample size calculation available for different study designs. In this review sample size calculation for most frequently used study designs are mentioned. For genetic and microbiological studies readers are requested to read other sources.

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Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.

Anna L Gloyn, Michael N Weedon, Katharine R Owen … (2003)

The genes ABCC8 and KCNJ11, which encode the subunits sulfonylurea receptor 1 (SUR1) and inwardly rectifying potassium channel (Kir6.2) of the beta-cell ATP-sensitive potassium (K(ATP)) channel, control insulin secretion. Common polymorphisms in these genes (ABCC8 exon 16-3t/c, exon 18 T/C, KCNJ11 E23K) have been variably associated with type 2 diabetes, but no large ( approximately 2,000 subjects) case-control studies have been performed. We evaluated the role of these three variants by studying 2,486 U.K. subjects: 854 with type 2 diabetes, 1,182 population control subjects, and 150 parent-offspring type 2 diabetic trios. The E23K allele was associated with diabetes in the case-control study (odds ratio [OR] 1.18 [95% CI 1.04-1.34], P = 0.01) but did not show familial association with diabetes. Neither the exon 16 nor the exon 18 ABCC8 variants were associated with diabetes (1.04 [0.91-1.18], P = 0.57; 0.93 [0.71-1.23], P = 0.63, respectively). Meta-analysis of all case-control data showed that the E23K allele was associated with type 2 diabetes (K allele OR 1.23 [1.12-1.36], P = 0.000015; KK genotype 1.65 [1.34-2.02], P = 0.000002); but the ABCC8 variants were not associated. Our results confirm that E23K increases risk of type 2 diabetes and show that large-scale association studies are important for the identification of diabetes susceptibility alleles.

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Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.

L. Thomas, Courtney L. Bryan, Alan J Bryan … (1995)

Familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion, is linked to chromosome 11p14-15.1. The newly cloned high-affinity sulfonylurea receptor (SUR) gene, a regulator of insulin secretion, was mapped to 11p15.1 by means of fluorescence in situ hybridization. Two separate SUR gene splice site mutations, which segregated with disease phenotype, were identified in affected individuals from nine different families. Both mutations resulted in aberrant processing of the RNA sequence and disruption of the putative second nucleotide binding domain of the SUR protein. Abnormal insulin secretion in PHHI appears to be caused by mutations in the SUR gene.

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Author and article information

Contributors

Godwill Azeh Engwa: (+234)8068473306 , engwagodwill@gmail.com , gengwa@gouni.edu.ng

Friday Nweke Nwalo: friday.nwalo@funai.edu.ng

Claribel Chidimma Chikezie: Claribelchaste@yahoo.com

Christie Oby Onyia: Onyia01@hotmail.com

Opeolu Oyejide Ojo: o.ojo2@wlv.ac.uk

Wilfred Fon Mbacham: wfmbacham@yahoo.com

Benjamin Ewa Ubi: ubi.benjamin1@yahoo.com

Journal

Journal ID (nlm-ta): BMC Med Genet

Journal ID (iso-abbrev): BMC Med. Genet

Title: BMC Medical Genetics

Publisher: BioMed Central (London )

ISSN (Electronic): 1471-2350

Publication date (Electronic): 12 May 2018

Publication date PMC-release: 12 May 2018

Publication date Collection: 2018

Volume: 19

Electronic Location Identifier: 78

Affiliations

[1 ]GRID grid.448896.f, Biochemistry, Department of Chemical Sciences, Godfrey Okoye University, P.M.B 01014, Thinkers Corner, ; Enugu, Nigeria

[2 ]Department of Biotechnology, Federal University, Ndufu-Alike Ikwo (FUNAI), P.M.B. 1010, Abakaliki, Nigeria

[3 ]GRID grid.448896.f, Department of Biotechnology, , Godfrey Okoye University, ; P.M.B 01014, Thinkers Corner, Enugu, Nigeria

[4 ]ISNI 0000000106935374, GRID grid.6374.6, Department of Biology, Chemistry and Forensic Science, School of Sciences, , University of Wolverhampton, ; Wolverhampton, WV1 1LY UK

[5 ]Bioscience Research Education and Advisory Centre, Ibadan, Nigeria

[6 ]ISNI 0000 0001 2173 8504, GRID grid.412661.6, Laboratory for Public Health Research Biotechnologies, The Biotechnology Centre, , University of Yaounde I, ; BP 8094 Yaounde, Cameroon

[7 ]ISNI 0000 0001 2033 5930, GRID grid.412141.3, Department of Biotechnology, , Ebonyi State University, ; P.M.B. 53, Abakaliki, Nigeria

Article

Publisher ID: 601

DOI: 10.1186/s12881-018-0601-1

PMC ID: 5948806

PubMed ID: 29751826

SO-VID: 8d082a29-98a3-439c-8c12-a9d443d5eaff

License:

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

History

Date received : 2 February 2018

Date accepted : 1 May 2018

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ScienceOpen disciplines: Genetics

Keywords: type 2 diabetes,abcc8 gene,genotyping,c49620t variant,nigeria

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ScienceOpen disciplines: Genetics

Keywords: type 2 diabetes, abcc8 gene, genotyping, c49620t variant, nigeria

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Possible association between ABCC8 C49620T polymorphism and type 2 diabetes in a Nigerian population

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Most cited references 20

How to Calculate Sample Size for Different Study Designs in Medical Research?

Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.

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