Association between OX40L polymorphism and type 2 diabetes mellitus in Iranians
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ABSTRACT:
SUBMITTER: Jahromi A
PROVIDER: S-EPMC11232195 | biostudies-literature | 2024 Jan
REPOSITORIES: biostudies-literature
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Project description:IntroductionThe exact etiology of multiple sclerosis is unknown but recent studies indicated a link between tumor necrosis factor superfamily member 4 and the disease. Polymorphisms located in the regulatory region of the gene may affect its phenotype. Hence, we aimed to investigate the association of promoter polymorphisms of the gene with multiple sclerosis and also to estimate the frequency of haplotypes in the patients and healthy subjects.MethodsTwo hundred age- and sex-matched subjects including 100 patients and 100 healthy subjects were investigated in the study. Genotype and allele distributions of rs3850641, rs1234313, and rs10912580 polymorphisms in the promoter region of the gene were investigated by polymerase chain reaction-restriction fragment length polymorphism. In addition, haplotype frequencies estimation and linkage disequilibrium analysis were performed by SNPStats web tool.ResultsThe distribution of AA, AG and GG genotypes of rs3850641 was significantly different between the patient and healthy groups (P = 0.009). In addition, frequencies of A and G alleles of rs3850641 were different between the groups (P < 0.001). Also the distribution of rs3850641 genotypes was different between the women of the both groups (P = 0.007). Our analysis revealed that rs3850641 AG (Odds ratio = 0.393, 95 % confidence interval = 0.170-0.907, P = 0.029) and GG (Odds ratio = 0.373, 95 % confidence interval = 0.168-0.830, P = 0.016) genotypes were associated with decreased risk of the disease. However, rs1234313 genotype and allele distributions were not different between the groups. The distribution of rs10912580polymorphism. AA, AG, and GG genotypes was significantly different between the groups (P = 0.007). rs10912580 AG genotype was associated with low risk of the disease (Odds ratio = 0.252, 95 % confidence interval = 0.102-0.623, P = 0.003). The distribution of haplotypes was statistically different between the patient and healthy groups (P < 0.001). A-G-A was the most frequent haplotype among the patients and the estimated frequency was higher than that of the control group (0.5527 versus 0.3739).ConclusionThe distribution of rs3850641 and rs10912580 genotypes was different between the patients and healthy subjects. Moreover, rs3850641 AG and GG genotypes and also rs10912580 AG genotype were associated with low risk of the disease in Iranians. Further studies with large groups are recommended to show whether genotype variation in the patients could alter the response to treatment or not.
| S-EPMC10944201 | biostudies-literature
Project description:BackgroundLarge scale association studies have found a significant association between type 2 diabetes mellitus (T2DM) and transcription factor 7-like 2 (TCF7L2) polymorphism rs7903146. However, the quality of data varies greatly, as the studies report inconsistent results in different populations. Hence, we perform this meta-analysis to give a more convincing result.MethodsThe articles, published from January 1st, 2000 to April 1st, 2017, were identified by searching in PubMed and Google Scholar. A total of 56628 participants (34232 cases and 22396 controls) were included in the meta-analysis. A total of 28 studies were divided into 4 subgroups: Caucasian (10 studies), East Asian (5 studies), South Asian (5 studies) and Others (8 studies). All the data analyses were analyzed by the R package meta.ResultsThe significant association was observed by using the dominant model (OR = 1.41, CI = 1.36 - 1.47, p < 0.0001), recessive model (OR = 1.58, CI = 1.48 - 1.69, p < 0.0001), additive model(CT vs CC) (OR = 1.34, CI = 1.28-1.39, p < 0.0001), additive model(TT vs CC) (OR = 1.81, CI = 1.69-1.94, p < 0.0001)and allele model (OR = 1.35, CI = 1.31-1.39, p < 0.0001).ConclusionThe meta-analysis suggested that rs7903146 was significantly associated with T2DM in Caucasian, East Asian, South Asian and other ethnicities.
| S-EPMC5842570 | biostudies-literature
Project description:This study aims to investigate the relationship between single nucleotide polymorphisms (SNPs) of sex hormone binding globulin (SHBG) and type 2 diabetes mellitus (T2DM) in an Uighur population. One hundred and fourteen T2DM male patients (with a history of diabetes or diagnosed as diabetic by the oral glucose tolerance test) and 173 healthy males from the Uighur ethnic group were included in the study to test the following SNPs of SHBG: rs727428, rs1799941, rs6259, rs6257, rs858521, rs858518, rs3760213, and rs11078701. The body mass index (BMI), blood pressure, and waist circumference, and lipid, glucose, HbA1c, insulin, HOMA-IR, testosterone, and SHBG levels of enrolled individuals were measured. We used the t-test or rank sum test and Chi-square test to analyze the difference and compare numeration data, respectively, between the case and control groups. Comparisons among multiple groups were carried out using analysis of variance, and the correlation between variables was determined by nonparametric Spearman rank correlation analysis; multivariate logistic regression analysis was used to assess the risk of abnormal glucose in the two groups. There was a significant difference (P < 0.05) in BMI, blood pressure, and waist circumference, and lipid, glucose, HbA1c, insulin, and HOMA-IR levels between the case and control groups. The risk factors for diabetes included testosterone (P = 0.042) and SHBG (P = 0.001). The distribution of rs858521 (P = 0.001), rs1799941 (2.3%, P = 0.032), rs6259 (2.5%, P = 0.040), and rs727428 (3.4%, P = 0.016) was significantly different between the case and control groups (P < 0.05). In the control group, there was linkage disequilibrium (LD) between rs727428 and rs6259, while in the case group LD was found among rs858518, rs3760213, rs1799941, and rs6257. The frequency of rs858518-rs3760213-rs1799941-rs6257 haplotype TCGC was significantly different between the two groups (P = 0.033). Both testosterone and SHBGwere found to be risk factors of diabetes in the Uighur population, and SNPs of SHBG may contribute to T2DM.
| S-EPMC6949838 | biostudies-literature
Project description:PurposeType 2 diabetes mellitus (T2DM) is a global health problem with multiple etiological factors. Previous studies indicated that 1- alpha, 25-dihydroxyvitamin D3, a molecule that is produced by CYP27B1, could protect insulin-secreted cells from destruction by immune cells. The aim of the study was to investigate the CYP27B1 promoter gene polymorphism in T2DM.MethodsTwo hundred subjects including 100 T2DM and 100 healthy individuals were recruited in the study. ARMS-PCR technique was used to identify rs10877012 genotypes in the 5' region of CYP27B1.ResultsThe frequency of CC, CA, and AA genotype was 61/50, 31/39, and 8/11, respectively in T2DM patients compared to healthy subjects. There was no significant difference between both groups in regarding to genotype and allele distribution (P > 0.05). CA (RR = 1.535, 95% CI = 0.841- 2.802) and AA (1.677, 95% CI = 0.627-4.490) genotypes had no association with increased risk of T2DM. In addition, CA + AA versus CC showed no increased risk for T2DM (RR = 0.639, 95% CI = 0.365-1.121).ConclusionWe found no association between rs10877012 polymorphism and T2DM. There was no increased risk of this polymorphism in T2DM. Further studies with large groups are suggested in other populations to better understand the relation of CYP27B1 gene variation, especially its ethnicity-dependent relation with T2DM.
| S-EPMC9167340 | biostudies-literature
Project description:This article investigates whether there is an association between the rs266729 polymorphism in adiponectin promoter gene with metabolic parameters and disease status in 300 type 2 diabetes patients and 300 healthy adults from Jahrom city, Iran. The variants (G/C) were tested by polymerase chain reaction-restriction fragment length polymorphism method (RFLP) and metabolic parameters (glucose, cholesterol, HDL and LDL cholesterol) were measured using biochemical methods. However, no differences were detected between the haplotypes investigated, and the data obtained from our lab shown association of the ADIPOQ promoter polymorphism neither with biochemical parameters, nor with disease status.
| S-EPMC5133470 | biostudies-literature
Project description:As the incidence of type 2 diabetes mellitus (T2DM) is increasing rapidly and its consequences are severe, effective intervention and prevention, including sleep-related interventions, are urgently needed. As a component of sleep architecture, naps, alone or in combination with nocturnal sleep, may influence the onset and progression of T2DM. Overall, napping is associated with an increased risk of T2DM in women, especially in postmenopausal White women. Our study showed that napping >30 minutes (min) increased the risk of T2DM by 8-21%. In addition, non-optimal nighttime sleep increases T2DM risk, and this effect combines with the effect of napping. For nondiabetic patients, napping >30 min could increase the risks of high HbA1c levels and impaired fasting glucose (IFG), which would increase the risk of developing T2DM later on. For diabetic patients, prolonged napping may further impair glycemic control and increase the risk of developing diabetic complications (e.g., diabetic nephropathy) in the distant future. The following three mechanisms are suggested as interpretations for the association between napping and T2DM. First, napping >30 min increases the levels of important inflammatory factors, including interleukin 6 and C-reactive protein, elevating the risks of inflammation, associated adiposity and T2DM. Second, the interaction between postmenopausal hormonal changes and napping further increases insulin resistance. Third, prolonged napping may also affect melatonin secretion by interfering with nighttime sleep, leading to circadian rhythm disruption and further increasing the risk of T2DM. This review summarizes the existing evidence on the effect of napping on T2DM and provides detailed information for future T2DM intervention and prevention strategies that address napping.
| S-EPMC10999583 | biostudies-literature
Project description:The incidence of thyroid cancer is increasing worldwide. The prevalence of type 2 diabetes mellitus (T2DM) is also increasing. Therefore, we aimed to analyze the effect of T2DM on thyroid cancer.A case-control study was performed. A total of 415 healthy controls with thyroid ultrasound screening and physician consultation were selected from the Thyroid Cancer Longitudinal Study (T-CALOS). Among patients with thyroid cancer who were enrolled in T-CALOS, 415 patients were matched to the control group according to age and sex. We assessed the effects of T2DM, T2DM duration, and T2DM medication on thyroid cancer.Women with T2DM had lower odds of thyroid cancer than women without T2DM (odds ratio [OR]: 0.40, 95% confidence interval [CI]: 0.20-0.81). Individuals receiving T2DM medication had higher odds of thyroid cancer compared to those without T2DM medication (OR: 5.21, 95% CI: 1.58-17.15). Individuals with T2DM duration <6 years had lower odds of thyroid cancer compared to those without T2DM (OR: 0.58, 95% CI: 0.34-0.97).Individuals with early T2DM are presumed to have a low incidence of thyroid cancer, and this effect seems to last up to 6 years after diagnosis of T2DM.
| S-EPMC5523441 | biostudies-other
Project description:BackgroundType 1 diabetes mellitus (T1DM) is disease caused by the destruction of β pancreatic cells. The activation of T-lymphocyte and proliferation inhibitor are induced by protein tyrosine phosphatase non-receptor type 22 (PTPN22). However, the link between PTPN22 C1858T gene polymorphism and T1DM is still controversy. This study aimed to analyse the C1858T gene polymorphism in Indonesian children with T1DM.Materials and methodsThis case-control study was conducted from March 2021 to May 2022 in the Endocrinology Outpatient Clinic at Dr. Soetomo Hospital and Tropical Disease Center Universitas Airlangga. Patients with controlled T1DM during the study period were included. The PTPN22 analysis used polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method.ResultsSixty-two children voluntarily participated in this study, and were equally divided into the T1DM and control groups. Most of the patients (94%, 58/62) are Javanese. This study revealed a more frequent CC genotype (9.4%) and allele-C (54.6%) polymorphism in the T1DM group, while more frequent CT genotype (100%) and allele-T (50%) polymorphism were in the control group. The C- and T-allele frequency was 54.6% and 45.4% in the T1DM group, respectively. The T1DM and control groups did not significantly differ (p= .2381).ConclusionsPTPN22 homozygous genotype-CC and allele-C polymorphisms are more frequent in patients with T1DM. However, the PTPN22 C1858T gene polymorphism did not significantly correlate to T1DM children in this study.Key Messages:The PTPN22 C1858T gene polymorphism does not significantly affect the susceptibility of T1DM in Indonesian children.PTPN22 homozygous genotype-CC polymorphism was more observed in the T1DM group; thus, this genotype may play as a risk factor for T1DM children in the Indonesian population.
| S-EPMC10044151 | biostudies-literature
Project description:Background: The Leu72Met polymorphism of ghrelin gene has been associated with genetic predisposition to type 2 diabetes mellitus (T2DM), while conclusions remain conflicting. Hence, we performed this updated meta-analysis to clarify the association between Leu72Met polymorphism and T2DM susceptibility. Methods: Six electronic databases were consulted for articles published before 1 January, 2018. Pooled odds ratios (OR) and 95% confidence intervals (CI) were calculated under five genetic models to assess this association. We used I 2-test and Q statistics to measure heterogeneity across the included studies. Subgroup analyses and publication bias were also performed. Results: Thirteen case-control studies involving 4720 T2DM patients and 4206 controls were included in this meta-analysis. The overall results using fixed-effects models showed that Leu72Met polymorphism was significantly associated with an increased risk of T2DM under homozygous model (OR = 1.307, 95%CI 1.001-1.705, p = 0.049). Further subgroup analyses stratified by ethnicity revealed that the risk for T2DM was only increased in Asians (homozygous model: OR = 1.335, 95%CI 1.014-1.758, p = 0.040), while decreased in Caucasians (dominant model: OR = 0.788, 95%CI 0.635-0.978, p = 0.030; heterozygous model: OR = 0.779, 95%CI 0.626-0.969, p = 0.025; allelic model: OR = 0.811, 95%CI 0.661-0.995, p = 0.045). Funnel plots were basically symmetrical, and all p-values of Egger's test under five genetic models were >0.050, which indicated no evidence of publication bias. Conclusions: Our results demonstrate that the Leu72Met polymorphism of ghrelin gene may be protective against T2DM in Caucasians, while predisposing to T2DM in Asians.
| S-EPMC6246653 | biostudies-literature
Project description:IntroductionMethylenetetrahydrofolate reductase (MTHFR) is essential in mediating folate metabolism, and thus plays an important role in diabetes and diabetic complications. MTHFR C677T (rs1801133 C>T) polymorphism has been proposed to be linked with type 2 diabetes mellitus (T2DM) susceptibility. However, the conclusions are inconsistent. Therefore, we rechecked their linkage aiming to obtain a more reliable estimation by performing an updated meta-analysis.MethodsWe searched electronic databases PubMed, EMBASE, CNKI, and Wanfang to obtain studies updated to October 2019.ResultsAfter carefully screening, we finally incorporated 68 studies with 10,812 cases and 8,745 controls. The genotype frequency of C677T polymorphism was analyzed pooled to generate odds ratios (ORs) and 95% confidence intervals (CIs). Pooled results presented that MTHFR C677T polymorphism was significantly associated with T2DM under homozygous (OR = 1.64, 95% CI = 1.39-1.94), heterozygous (OR = 1.38, 95% CI = 1.20-1.59), recessive (OR = 1.41, 95% CI = 1.23-1.61), dominant (OR = 1.47, 95% CI = 1.27-1.70), and allele (OR = 1.37, 95% CI = 1.23-1.52) genetic models. Stratified analysis demonstrated that C677T genotype was associated with T2DM in Asian populations, but not Caucasian and African populations.ConclusionOur results indicated that MTHFR C677T polymorphism confers to T2DM, especially in Asian populations. Much more large-scale case-control studies are needed to strengthen such conclusion in the future.
| S-EPMC6900375 | biostudies-literature