Single Nucleotide Polymorphism in the 3’ Untranslated Region of PRKAA2 on Cardiometabolic Parameters in Type 2 Diabetes Mellitus Patients Who Received Metformin

Abstract

Purpose This study aimed to explore the association of rs857148 A>C as 3ʹUTR variants with blood pressure, HbA1c profile, and lipid profiles as cardiometabolic parameters among patients with T2DM receiving metformin. Patients and Methods This cross-sectional analytic research was conducted with 114 consecutively selected patients with T2DM. Polymerase chain reaction-restriction fragment length polymorphism was conducted to determine rs857148 . A total of 108 patients fulfilled inclusion and exclusion criteria. Results Genotype distribution agreed with the Hardy Weinberg Equation for Equilibrium ( p >0.05) but wildtype allele was found as the minor allele. Subjects with CC genotype and C allele had enhanced HbA1c levels (OR=7.12; 95% CI=1.05–48.26; p =0.04; OR=1.66; 95% CI=1.06–2.60; p =0.03, respectively). It was confirmed by dominant model whereas subjects with AA tended to have reduced HbA1c compared to AC+CC genotype (OR=0.15; 95% CI=0.02–0.97; p =0.047). AC genotype had significant correlation to total cholesterol (OR=1.05; 95% CI=1.01–1.10; p =0.03) compared to AA genotype. Conclusion We conclude that polymorphism of rs87148 , specifically CC genotype and C allele, has a significant association with HbA1c and total cholesterol after considering oral hypoglycemia agent dose, age, gender, and combination therapy, compared to AA genotype. Future studies that involve a larger sample population and more rigorous selection criteria are required.

Association of SLC11A1 polymorphisms with anthropometric and biochemical parameters describing Type 2 Diabetes Mellitus

“…In the last 30 years, the prevalence of T2DM has doubled, making it one of the most significant global health issues 35 , suggesting the urgent need to identify novel biomarkers for early diagnosis of this endocrine disease. Genetic variations located in the intronic region 36 or the 3′-Untranslated Region (UTR) 37 , 38 of some genes have been found to independently contribute to the predisposition to T2DM, suggesting that there may be other, as-yet-undiscoverable functional variations in Homo sapiens . Additional in-depth population genetic research will be required to comprehend the connection between more complicated haplotypes and disease development in various geographical areas 39 .…”

Geospatial analysis of type 2 diabetes mellitus and hypertension in South Sulawesi, Indonesia

“…Another study conducted in Malaysia involving 320 volunteers classified based on hypertension (163) and normotensive (157) conditions showed that TT genotype/T allele of the WNK4 gene resulted in a close relationship between hypertension and T2DM 11 . While genetic study remained limited in Indonesia, it is been documented that polymorphism of rs87148, especially CC genotype and C allele, and CAPN10 had a significant association with HbA1c level and increased T2DM vulnerability, respectively 12 , 13 .…”

“…By study conducted in Taiwan on 922 participants, 30 novel single nucleotide polymorphisms (SNPs) were associated with comorbid hypertension in T2DM patients adjusted for age and body mass index www.nature.com/scientificreports/ documented that polymorphism of rs87148, especially CC genotype and C allele, and CAPN10 had a significant association with HbA1c level and increased T2DM vulnerability, respectively 12,13 .…”