Association Between GLO1 Variants and Gestational Diabetes Mellitus Susceptibility in a Chinese Population
Ontology highlight
ABSTRACT:
INSTRUMENT(S): -
ORGANISM(S): Homo Sapiens
SUBMITTER: Guangdong Medical University
PROVIDER: PRJEB64024 | EVA | 2024-12-31
REPOSITORIES: EVA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| snp3.vcf.csi | Other | |||
| snp3.vcf.gz | Vcf | |||
| snp3.vcf.gz.csi | Vcf |
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Project description:To assess whether gene single nucleotide polymorphisms are associated with GDM risk.
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Project description:BackgroundAlthough the association between HHEX, IGF2BP2, and FTO polymorphisms and the risk of GDM has been investigated in several studies, the findings have been inconsistent across different populations. The study aimed to investigate the association between genetic polymorphisms and GDM risk in a Chinese population.Methods502 control volunteers and 500 GDM patients were enrolled. IGF2BP2 rs11705701 and rs4402960, FTO rs9939609, and HHEX rs1111875 and rs5015480 were all genotyped using the SNPscan™ genotyping assay. The independent sample t-test, logistic regression, and chi-square test were used to assess the variations in genotype and allele and their relationships with the risk of GDM. The blood glucose level, gestational week of delivery, and newborn weight were compared using a one-way ANOVA.ResultsAfter adjusting for confounding factors, the results show that the rs1111875 heterozygous (OR=1.370; 95% CI: 1.040-1.805; P = 0.025) and overdominant (OR=1.373; 95% CI: 1.049-1.796; P = 0. 021) models are significantly associated with an increased risk of GDM, especially for the age ≥ 30 years group: heterozygote (OR=1.646; 95% CI: 1.118-2.423; P=0.012) and overdominant (OR=1.553; 95% CI: 1.064-2.266; P = 0.022) models. In the age ≥ 30 years, the rs5015480 overdominant model (OR=1.595; 95% CI: 1.034-2.459; P = 0.035) and the rs9939609 heterozygote model (OR=1.609; 95% CI: 1.016-2.550; P=0.043), allele (OR=1. 504; 95% CI: 1.006-2.248; P = 0.047), dominant model (OR=1.604; 95% CI: 1.026-2.505; P = 0.038), and overdominant model (OR=1.593; 95% CI: 1.007-2.520; P = 0.047) were associated with a significantly increased risk of GDM; Additionally, people with the TC genotype of rs1111875 had a substantially higher 1-hour blood glucose level than TT genotype (P < 0.05). The results of the meta-analysis showed that the A allele of rs11705701 was associated with an increased risk of diabetes mellitus (P < 0.05).ConclusionThe study indicates that the TC genotype of rs1111875 is linked to a higher risk of GDM, particularly in women aged 30 years or older. Additionally, rs5015480 and rs9939609 were significantly associated with GDM in the same age group. These SNPs may therefore be more closely linked to GDM in older mothers.
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Project description:ATP-binding cassette transporter A1 (ABCA1) is associated with serum high-density lipoprotein (HDL) levels. Several studies have demonstrated that individuals with a high HDL cholesterol level have a reduced risk of incident type 2 diabetes mellitus (T2DM). Therefore, we conducted a case-control study including 508 T2DM patients and 614 controls to explore the association between the ABCA1 rs1800977 polymorphism and T2DM risk in a Chinese Han population. Genotyping was performed using matrix-assisted laser desorption/lionization time-of-flight mass spectrometry. Our results indicate that the TT genotype of the rs1800977 polymorphism was associated with a decreased risk of T2DM compared to the CC genotype. The T allele of the rs1800977 polymorphism was also related with a decreased risk of T2DM. There was no significant association between clinical parameters (HDL, low-density lipoprotein, cholesterol, body mass index, and age) and rs1800977 polymorphism genotypes. In conclusion, the ABCA1 rs1800977 polymorphism may contribute to the development of T2DM. However, larger studies with more diverse ethnic populations are needed to confirm these results.
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Project description:BackgroundGlyoxalase 1 (GLO1) plays a crucial role in defending against glycation. Single nucleotide polymorphism (SNP) variants in the GLO1 gene may affect gene expression and alter enzyme activity. However, there have been limited studies evaluating the association between GLO1 and diabetes, especially gestational diabetes mellitus (GDM). Therefore, this study is the first to explore the association of GLO1 SNPs and GDM risk.MethodsThe study included a total of 500 GDM patients and 502 control subjects. The SNPscan™ genotyping assay was used to genotype rs1781735, rs4746 and rs1130534. To assess the disparities in genotype, allele, and haplotype distributions and their correlation with GDM risk, the independent sample t-test, logistic regression, and chi-square test were employed during the data processing phase. Furthermore, one-way ANOVA was conducted to determine the differences in genotype and blood glucose and methylglyoxal(MG) levels.ResultsSignificant differences were observed in prepregnancy body mass index (pre-BMI), age, systolic blood pressure (SBP), diastolic blood pressure (DBP), and parity between GDM and healthy subjects (P < 0.05). After adjusting for these factors, GLO1 rs1130534 TA remained associated with an increased risk of GDM (TA vs. TT + AA: OR = 1.320; 95% CI: 1.008-1.728; P = 0.044), especially in the pre-BMI ≥ 24 subgroup (TA vs. TT + AA: OR = 2.424; 95% CI: 1.048-5.607; P = 0.039), with fasting glucose levels being significantly elevated in the TA genotype compared to the TT genotype (P < 0.05). Conversely, the GLO1 rs4746 TG was associated with a decreased risk of GDM (TG vs. TT: OR = 0.740; 95% CI: 0.548-0.999; P = 0.049; TG vs. TT + GG: OR = 0.740; 95% CI: 0.548-0.998; P = 0.048). Additionally, the haplotype T-G-T of rs1781735, rs4746 and rs1130534 was associated with a decreased risk of GDM among individuals with a pre-BMI ≥ 24 (OR = 0.423; 95% CI: 0.188-0.955; P = 0.038). Furthermore, the rs1781735 GG genotype was found to be more closely related to maternal MG accumulation and neonatal weight gain (P < 0.05).ConclusionOur findings suggested that GLO1 rs1130534 was associated with an increased susceptibility to GDM and higher blood glucose levels, but GLO1 rs4746 was associated with a decreased risk of GDM. The rs1781735 has been associated with the accumulation of maternal MG and subsequent weight gain in neonates.
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Project description:BackgroundAs an immune regulator expressed on the surface of activated T cells, programmed cell death 1 (PDCD1) plays an important role in psoriasis. However, whether PDCD1 genetic polymorphism is associated with psoriasis has yet to be explored.ObjectiveTo study the association between polymorphisms of the immune-related gene PDCD1 and psoriasis susceptibility in the Chinese population, to illustrate the genetic mechanism of psoriasis and provide new research ideas for the diagnosis and treatment of psoriasis (PS).MethodsOverall, 128 psoriasis patients and 88 healthy controls were included in this study. Using polymerase chain reaction (PCR)-Sanger sequencing analysis, six PDCD1 single nucleotide polymorphisms (SNPs) were sequenced: PD1.1, PD1.3, PD1.4, PD1.5, PD1.6, and PD1.9.ResultsAmong the six tested SNPs, PD1.6 showed a significant association with psoriasis in genotype and allele frequency distribution. The G allele of PD1.6 increased the risk of psoriasis (P = 0.03). In contrast, the other five SNPs failed to show association with psoriasis. Further analysis within the patient group showed that the frequency of the PD1.6 G allele was relatively high in severe psoriasis, but the difference was nonsignificant.ConclusionPDCD1 gene polymorphism is associated with psoriasis. The population carrying PD1.6 allele G are at a higher risk of developing psoriasis, though the severity of psoriasis does not correlate with PD1.6 polymorphism.
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Project description:Xeroderma pigmentosum group G (XPG) protein plays an important role in the DNA repair process by cutting the damaged DNA at the 3' terminus. Previous studies have indicated some polymorphisms in the XPG gene are associated with stomach cancer susceptibility. We performed this hospital-based case-control study to evaluate the association of four potentially functional XPG polymorphisms (rs2094258 C>T, rs751402 C>T, rs2296147 T>C and rs873601G>A) with stomach cancer susceptibility. The four single nucleotide polymorphisms (SNPs) were genotyped in 692 stomach cancer cases and 771 healthy controls. Logistic regression analysis was conducted, and odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the association of interest. Of the studied SNPs, XPG rs873601G>A polymorphism was found to significantly associate with stomach cancer susceptibility (AA versusGg/agOR = 1.31, 95% CI = 1.03-1.66, P = 0.027). Combined analysis of all SNPs revealed that the individuals with two of risk genotypes had a significantly increased stomach cancer risk (OR = 1.52, 95% CI = 1.13-2.06). In the stratification analysis, the association between the rs873601AA genotype and stomach cancer risk was observed in older group (>59 year), as well as patients with non-cardia stomach cancer. Further combined analysis indicated men, smokers, or non-drinkers more than one risk genotypes had a significantly increased stomach cancer risk. Our results indicate that XPG rs873601G>A polymorphism may be associated with the risk of stomach cancer. Further prospective studies with different ethnicities and large sample sizes are needed to validate our findings.
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Project description:Aims/introductionPrevious studies have suggested a possible relationship between type 2 diabetes mellitus susceptibility loci and diabetic complications. The present study aimed to investigate the associations between type 2 diabetes mellitus loci with peripheral nerve function in a Chinese population with type 2 diabetes mellitus.Materials and methodsA total of 1,900 type 2 diabetes mellitus patients were recruited in the study. We selected ten single nucleotide polymorphisms (SNPs) from ten type 2 diabetes mellitus susceptibility genes previously confirmed in Chinese patients. Genotyping was carried out by using a MassARRAY Compact Analyzer. Peripheral nerve function was evaluated by nerve conduction studies in all participants. The composite Z-scores for nerve conduction parameters including conduction velocity (CV), amplitude and latency were calculated, respectively.ResultsRs5219 of KCNJ11 (E23K, G→A) was identified to be associated with all the parameters obtained from nerve conduction studies (Z-score of CV: β = 0.113, P = 0.01; Z-score of amplitude: β = 0.133, P = 0.01; Z-score of latency: β = -0.116, P = 0.01) after adjustment for covariates including age, duration and glycated hemoglobin. Specifically, each copy of the A allele was related to better outcomes. CDKAL1 rs7756992 and TCF7L2 rs7903146 correlated with the composite Z-score of amplitude (P = 0.028 and P = 0.016, respectively), but not CV (P = 0.393 and P = 0.281, respectively) or latency (P = 0.286 and P = 0.273, respectively). There were no significant associations between the other seven SNPs and peripheral nerve function.ConclusionsRs5219 at KCNJ11 (E23K) was associated with peripheral nerve function in a Chinese population with type 2 diabetes mellitus, suggesting shared genetic factors for type 2 diabetes mellitus and diabetic polyneuropathy in this population.
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Project description:ObjectiveTo investigate the association between three single nucleotide polymorphisms (SNPs) of the ATP-binding cassette (ABC) gene family and susceptibility to type 2 diabetes mellitus in a Chinese Han population.MethodsA total of 1086 type 2 diabetes patients and 1122 healthy controls were included in this retrospective study. Three genetic variants, rs1800977 and rs4149313 in ABCA1, and rs1128503 in ABCB1 were included in the study. Susceptibility to type 2 diabetes was evaluated under three genetic models.ResultsA significant association between rs1800977 and type 2 diabetes was identified in three different genetic models (TT vs CC, odds ratio [OR] = 0.611 [95% confidence interval (CI), 0.469-0.798]; T vs C, OR = 0.841 [95% CI, 0.745-0.950]; and the recessive model, OR = 0.606 [95% CI, 0.474-0.774]). Additionally, a significant association between rs4149313 and type 2 diabetes was identified in three different genetic models (AA vs GG, OR = 0.467 [95% CI, 0.326-0.670]; A vs G, OR = 0.819 [95% CI, 0.717-0.935]; and the recessive model, OR = 0.478 [95% CI, 0.336-0.680]).ConclusionWe found that SNPs rs1800977 and rs4149313 in ABCA1 are significantly associated with susceptibility to type 2 diabetes in a Chinese population, although this should be confirmed in a larger study.
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Project description:Interleukin-1 (IL-1) gene is known to be implicated in tuberculosis (TB). The present case-control study was designed to investigate whether IL-1 polymorphisms associated with TB susceptibility in a Chinese Tibetan cohort. 300 Tibetan tuberculosis patients and 300 healthy controls were recruited for 12 single-nucleotide polymorphisms (SNPs) genotyping of IL-1 gene via Sequenom MassARRAY analysis. The odds ratio (OR) and 95% confidence interval (CI) were analyzed by unconditional logistic regression to evaluate the effect of polymorphisms on the risk of tuberculosis. Among genotyped SNPs, a significant high risk between TB and SNP rs3783550 G/T, rs3783546 G/C, rs2856838 A/G, rs1609682 G/T, rs3783521 A/G genotype within IL-1α as well as rs1143623 G/G genotype within IL-1β was found based on multiple model analysis. In addition, IL-1α SNPs mapped in a 10 kb LD block with D'>0.98, suggesting that a significant linkage disequilibrium presence among these SNPs, and "TCATG" haplotype of IL-1α SNPs with a 1.47-fold risk for TB was observed (P = 0.007). In conclusion, our data shed new light on how IL-1 SNPs may contribute to tuberculosis susceptibility in the Chinese Tibetan population.
| S-EPMC6963021 | biostudies-literature