A single-nucleotide polymorphism in ANK1 is associated with susceptibility to type 2 diabetes in Japanese populations

2012 ◽  
Vol 21 (13) ◽  
pp. 3042-3049 ◽  
Author(s):  
Minako Imamura ◽  
Shiro Maeda ◽  
Toshimasa Yamauchi ◽  
Kazuo Hara ◽  
Kazuki Yasuda ◽  
...  
2019 ◽  
Vol 2019 ◽  
pp. 1-7
Author(s):  
Yaroslav D. Chumachenko ◽  
Viktoriia Yu. Harbuzova ◽  
Alexander V. Ataman

Type 2 diabetes mellitus (T2DM) belongs to the diseases with hereditary predisposition, so both environmental and genetic factors contribute to its development. Recent studies have demonstrated that the skeleton realizes systemic regulation of energy metabolism through the secretion of osteocalcin (OCN). Thus, the association analysis between HindIII single nucleotide polymorphism of OCN gene (BGLAP) promoter region and T2DM development in Ukrainian population was carried out. 153 individuals diagnosed with T2DM and 311 control individuals were enrolled in the study. The genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The lack of association between BGLAP HindIII single nucleotide polymorphism (SNP) and T2DM development among Ukrainians was found. Further studies with extended groups of comparison are needed to confirm the obtained results.


2019 ◽  
Vol 26 (3) ◽  
pp. 253-260
Author(s):  
Nadiia Demihova ◽  
Cherkashyna Lidiya ◽  
Olha Chernatska ◽  
Tetyana Mazur ◽  
Tetyana Aleksakhina ◽  
...  

Abstract Background and aims. The purpose of our study was to determine the features of diabetic nephropathy, to identify the relationship between the level of albumin excretion, urine and lipid profile, genotype variants of the CYP7A1 gene in people with type 2 diabetes and diabetic nephropathy. Material and methods. Patients were divided into three groups. Normoalbinuria was detected in group I, and II - microalbuminuria, and III -macroalbuminuria. Determination of albumin to creatinine ratio was more accurate, although more expensive method. We examined single nucleotide polymorphism -204A> C [rs 3808607] of the promoter region of the CYP7A1 gene. Results. It was established that homozygotes by the major allele with genotype AA had lower values of albuminuria, atherogenic lipoproteins, total cholesterol, triglycerides and higher levels of anti-atherogenic lipoproteins than patients with AС and СС genotypes. Conclusion. The СС genotype was most unfavorable in the prognostic plan, since homozygotes for this minor allele were characterized by higher values of albuminuria, total cholesterol, triglycerides, and lower values of high-density lipoprotein


2021 ◽  
Author(s):  
Masoud Tahani ◽  
Mohamad Taghi Goodarzi ◽  
Ali Asghar Ahmadi ◽  
Mohammad Hossein Hasani ◽  
Alireza Farrahi ◽  
...  

Abstract Genetic modifications in the adiponectin receptor 2 (AdipoR2) gene can affect phenotypes associated with insulin resistance and diabetes. The purpose of this study was to evaluate the possible role of genetic modifications in the AdipoR2 gene, to determine the frequency of genotypes and polymorphism alleles of this gene at rs11061971 (+ 219 A > T), and to investigate its correlation with type 2 diabetes (T2D) and its related metabolic profile. In this case-control study, the single-nucleotide polymorphism (SNP) of interest in 116 T2D patients and 102 controls was evaluated using RFLP PCR and FOK 1 enzyme. Fasting blood sugar, cholesterol, triglyceride, insulin, HDL-C, LDL-C and HbA1c were also measured and their correlation with the studied genetic modifications was assessed. The collected data were analyzed using Chi-square test and Hardy-Weinberg equation. There was a significant association in AT and TT genotypes in rs11061971 (+ 219 A > T) with T2D. However, no significant difference was observed in the frequency of alleles between the case and control groups. In addition, in LDL-C and total cholesterol in the control group, there was a significant difference between AA and TT genotypes as well as with AA and AT genotypes. However, no correlation was found between the other serum studied parameters and the genotype of individuals in the rs1106197171 polymorphism. The role of rs11061971 (+ 219 A > T) polymorphism in T2D incidence seems to be strong. This study showed that AT and TT genotypes versus AA genotype increase the risk of diabetes.


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