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- Title
NGS test: Novel ABCC8 K1411N Mutation Linked with Diabetes.
- Authors
Tokat, Bengu; Yanar, Fatih; Kanca-Demirci, Deniz; Gul, Nurdan; Satman, Ilhan; Ozturk, Oguz; Tutuncu, Yildiz; Malikova, Fidan; Aydogan, Cagatay; Yilmaz-Aydogan, Hulya
- Abstract
Objective: ATP-binding cassette transporter sub-family C member 8 (ABCC8) is involved in the formation of the sulfonylurea receptor-1 protein, a subunit of ATP-sensitive potassium channels found in the membranes of pancreatic beta cells. Gene mutations encoding the ABCC8 protein have been associated with neonatal diabetes, monogenic diabetes (MODY12), gestational diabetes, type 2 diabetes (T2DM), and obesity. Present study aimed to investigate the associations between genetic variations in ABCC8 gene, risk of T2DM and clinical phenotype using next generation sequencing (NGS) method in healthy and T2DM case groups of Turkish individuals. Material and Method: The study groups consisted of 42 patients diagnosed with T2DM and 79 healthy individuals. Mutations in the ABCC8 gene were investigated by NGS, and statistical analysis was performed by SPSS (version 20.0) software. Results: Body mass index, waist circumference, fasting blood glucose, hemoglobin A1c, triglyceride and C-reactive protein values were higher in case group compared to healthy group, while high-density lipoprotein cholesterol and estimated glomerular filtration rate values were lower in case group compared to healthy group. The novel K1411N (c.A4233C), which was detected in present study, was found statistically associated with risk of T2DM for the first time in the literature. Also, the K1411 rare G allele was associated with low C-peptide and increased BMI levels, in case group and control group respectively (p<0.05). The frequency of identified ABCC8 gene A1369S (rs757110 C>A, c.G4105T) mutation was similar in case and control groups. However, age of onset for T2DM in case group (p<0.05) and reduced BMI levels in control group (p<0.01) were found statistically associated with A1369S rare A allele. Additionally, A1369S homozygote AA genotype was statistically associated with reduced BMI and waist circumference in case group (p<0.05). Conclusion: In the present study, the effects of novel K1411N and known A1369S mutations of the ABCC8 gene on risk of T2DM and obesity have been observed.
- Subjects
DIABETES; ATP-binding cassette transporters; GLOMERULAR filtration rate; POTASSIUM channels; PHENOTYPES
- Publication
Experimed, 2022, Vol 12, Issue 1, pS24
- ISSN
2667-5846
- Publication type
Article