Association of gene single nucleotide polymorphisms with gestational diabetes mellitus susceptibility in a Chinese population
Ontology highlight
ABSTRACT:
INSTRUMENT(S): -
ORGANISM(S): Homo Sapiens
SUBMITTER: Guangdong Medical University
PROVIDER: PRJEB61053 | EVA | 2024-12-31
REPOSITORIES: EVA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| snp1.vcf.csi | Other | |||
| snp1.vcf.gz | Vcf | |||
| snp1.vcf.gz.csi | Vcf |
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Project description:To assess whether gene single nucleotide polymorphisms are associated with GDM risk.
2024-12-31 | PRJEB71647 | EVA
Project description:Hepatocyte nuclear factor 1? (HNF1?), a transcription factor encoded by the transcription factor 2 gene (TCF2), plays a critical role in pancreatic cell formation and glucose homeostasis. It has been suggested that single nucleotide polymorphisms (SNPs) of TCF2 are associated with susceptibility to type 2 diabetes (T2D). However, published results are inconsistent and inclusive. To further investigate the role of these common variants, we examined the association of TCF2 polymorphisms with the risk of T2D in a Han population in northeastern China. We genotyped five SNPs in 624 T2D patients and 630 healthy controls by using a SNaPshot method, and evaluated the T2D risk conferred by individual SNPs and haplotypes. In the single-locus analysis, we found that rs752010, rs4430796 and rs7501939 showed allelic differences between T2D patients and healthy controls, with an OR of 1.26 (95% CI 1.08-1.51, P = 0.003), an OR of 1.23 (95% CI 1.06-1.55, P = 0.001) and an OR of 1.28 (95% CI 1.10-1.61, P = 0.001), respectively. Genotype association analysis of each locus also revealed that the homozygous carriers of the at-risk allele had a significant increased T2D risk compared to homozygous carriers of the other allele (OR 1.78, 95% CI 1.20-2.64 for rs752010; OR 1.82, 95% CI 1.24-2.67 for rs4430796; OR 1.95, 95% CI 1.31-2.90 for rs7501939), even after Bonferroni correction for multiple comparisons. Besides, the haplotype-based analysis demonstrated that AGT in block rs752010-rs4430796-rs7501939 was associated with about 30% increase in T2D risk (OR 1.31, 95% CI 1.09-1.57, P = 0.01). Our findings suggested that TCF2 variants may be involved in T2D risk in a Han population of northeastern China. Larger studies with ethnically diverse populations are warranted to confirm the results reported in this investigation.
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Project description:AimsSIRT1 deficiency has been associated with diabetes, and a variant of the SIRT1 gene has been found to be involved in human autoimmune diabetes; however, it is unclear whether this genetic variation exists in Han Chinese with type 1 diabetes (T1D) and whether it contributes to development of T1D. Therefore, we aimed to explore the association of the SIRT1 gene single-nucleotide polymorphisms (SNPs) rs10997866 and rs3818292 in a Han Chinese population with T1D.MethodsThis study recruited 2653 unrelated Han Chinese individuals, of whom 1289 had T1D and 1364 were healthy controls. Allelic and genotypic distributions of SIRT1 polymorphisms (rs10997866 and rs3818292) were determined by MassARRAY. Basic characteristics, genotype and allele frequencies of selected SNPs were compared between the T1D patients and healthy controls. Further genotype-phenotype association analysis of the SNPs was performed on the T1D patients divided into three groups according to genotype. Statistical analyses included the chi-square test, Mann‒Whitney U test, Kruskal‒Wallis H test and logistic regression.ResultsThe allelic (G vs. A) and genotypic (GA vs. AA) distributions of SIRT1 rs10997866 were significantly different in T1D patients and healthy controls (P = 0.039, P = 0.027), and rs10997866 was associated with T1D susceptibility under dominant, overdominant and additive models (P = 0.026, P = 0.030 and P = 0.027, respectively). Moreover, genotype-phenotype association analysis showed the GG genotype of rs10997866 and the GG genotype of rs3818292 to be associated with higher titers of IA-2A (P = 0.013 and P = 0.038, respectively).ConclusionSIRT1 rs10997866 is significantly associated with T1D susceptibility, with the minor allele G conferring a higher risk of T1D. Moreover, SIRT1 gene rs10997866 and rs3818292 correlate with the titer of IA-2A in Han Chinese individuals with T1D.
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Project description:To assess whether GLO1 rs1781735, rs4746, and rs1130534 are associated with GDM risk.
2024-12-31 | PRJEB64024 | EVA
Project description:BackgroundDepression is among the most common psychiatric disorders, and is a leading cause of the global disease burden. Its pathophysiological mechanism is unclear, which limits the development of therapeutic strategies. Long non-coding RNA (lncRNA) single nucleotide polymorphisms (SNPS) may be related. In this study, we aimed to determine the effects of the rs2242385, rs155979, rs3762983, and rs3762984 polymorphisms in the lncRNA NONHSAT102891 on depression susceptibility in a Chinese population.MethodsWe conducted a case-control study in a cohort of 480 patients with depression and 329 healthy controls, and performed genotyping by gene sequencing ii.ResultsThe rs155979 GC genotype was significantly associated with increased risk of depression compared with healthy controls. Stratified analysis showed a 2.08-fold increased risk of suicide in patients with rs155979 GC or GG genotype. The rs2242385, rs3762983, and rs3762984 polymorphisms were not significantly associated with the risk of depression. Haploid analysis showed linkage disequilibrium between rs155979, rs3762983, and rs3762984, and the CCG haplotype reduced the risk of depression.LimitationsThe study sample was relatively small, and was restricted to patients from central and southern China. Further, only peripheral blood was used for DNA extraction.ConclusionThe rs155979 polymorphism may be associated with the occurrence of depression in the Chinese population. However, further studies are needed to verify the reliability of our results in large populations and different ethnic groups.
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Project description:An Indian study recently observed three new loci: rs9552911 in the SGCG, rs1593304 near PLXNA4 and rs4858889 in SCAP associated with type 2 diabetes mellitus (T2DM) in a south Asian population. The present study aimed to validate these findings in a Chinese population. We genotyped the above three single-nucleotide polymorphisms (SNPs), rs9552911, rs1593304, and rs4858889, in a group of 1,972 Chinese individuals, comprising of 966 type 2 diabetic patients and 976 controls. Anthropometric variables and biochemical traits were measured in all the participants. The association analyses of genotype-disease and genotype-traits were estimated. The genotype frequency of rs9552911 differed statistically between the cases and controls (P=0.017). The difference was also evident between the cases and controls in non-obese participants (P=0.033). In addition, the SNP rs9552911 was associated with weight (P=0.033), total cholesterol (P=0.006) and low-density lipoprotein-cholesterol (P=0.007). The SNP rs1593304 was associated with β-cell function estimated by the homeostatic model assessment of β-cell function (P=0.041). However, there was no significant association between rs4858889 and T2DM. In conclusion, the results show that the SNP rs9552911 was associated with T2DM, possibly by affecting body mass index and lipid metabolism. The SNP rs1593304 may impair β-cell function.
| S-EPMC5244830 | biostudies-literature
Project description:BackgroundTo investigate whether the candidate genes that confer susceptibility to type 2 diabetes mellitus are also correlated with gestational diabetes mellitus (GDM) in pregnant Chinese women.Methodology/principal findingsIn this study, 1764 unrelated pregnant women were recruited, of which 725 women had GDM and 1039 served as controls. Six single nucleotide polymorphisms (rs7754840 in CDKAL1, rs391300 in SRR, rs2383208 in CDKN2A/2B, rs4402960 in IGF2BP2, rs10830963 in MTNR1B, rs4607517 in GCK) were genotyped using TaqMan allelic discrimination assays. The genotype and allele distributions of each SNP between the GDM cases and controls and the combined effects of alleles for the risk of developing GDM were analyzed. We found that the rs4402960, rs2383208 and rs391300 were statistically associated with GDM (OR = 1.207, 95%CI = 1.029-1.417, p = 0.021; OR = 1.242, 95%CI = 1.077-1.432, p = 0.003; OR = 1.202, 95%CI = 1.020-1.416, P = 0.028, respectively). In addition, the effect was greater under a recessive model in rs391300 (OR = 1.820, 95%CI = 1.226-2.701, p = 0.003). Meanwhile, the joint effect of these three loci indicated an additive effect of multiple alleles on the risk of developing GDM with an OR of 1.196 per allele (p = 1.08×10(-4)). We also found that the risk alleles of rs2383208 (b = -0.085, p = 0.003), rs4402960 (b = -0.057, p = 0.046) and rs10830963 (b = -0.096, p = 0.001) were associated with HOMA-B, while rs7754840 was associated with decrease in insulin AUC during a 100 g OGTT given at the time of GDM diagnosis (b = -0.080, p = 0.007).Conclusions/significanceSeveral risk alleles of type 2 diabetes were associated with GDM in pregnant Chinese women. The effects of these SNPs on GDM might be through the impairment of beta cell function and these risk loci contributed additively to the disease.
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Project description:Interleukin-17A/F (IL-17A/F) might play a role in the pathophysiology of osteoarthritis (OA), but several studies exploring the association between IL-17A/F single nucleotide polymorphisms and OA in different populations present inconsistent results. Thus, this case-control study, involving 410 OA cases and 507 controls, was aimed to investigate such association in a Chinese population. Genotyping was performed using standard polymerase chain reaction and restriction fragment length polymorphism. It was found that AA genotype or A allele carriers of IL-17A gene rs2275913 polymorphism were associated with OA susceptibility. Stratified analyses showed IL-17A rs2275913 polymorphism was evidently associated with a significantly increased risk for OA among males, <60 years old patients, smokers, and drinkers. No significant association was observed between IL-17F gene rs763780 polymorphism and OA risk. In conclusion, IL-17A rs2275913 polymorphism is involved in the development of OA in Chinese Han population. This finding should be confirmed by a larger study from diverse ethnic populations.
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Project description:ObjectiveNasopharyngeal carcinoma (NPC) is a common malignancy in Southern China and Southeast Asia. Genetic susceptibility is a major contributing factor in determining the individual risk of NPC in these areas. To test the association between NPC and variants in regenerating gene 1A (REG1A), we conducted a hospital-based case-control study in a Cantonese-speaking population from Guangdong province.MethodsWe endeavored to determine whether genetic variants of the REG1A gene were associated with the risk of NPC amidst the Cantonese population in a hospital-based case-control study using polymerase chain reaction-restriction and direct sequencing analysis in 211 NPC patients and 150 healthy controls. The association between NPC risk and the 14C/T, 20C/T, 369G/T, 1201A/G, and 2922C/T polymorphisms was examined after adjustment for age and sex.ResultsWe found an increased risk of developing NPC in individuals with REG1A 2922C/T variant genotype (p = 0.003, OR 0.419, 95% CI 0.235-0.746), and after adjustment for sex and age (p = 0.003, OR 0.406, 95% CI 0.226-0.732). No association between other polymorphisms (14C/T, 20C/T, 369G/T, and 1201A/G) and the risk of NPC was observed, before or after adjustment for age and sex.ConclusionOur findings suggest that the REG1A 2922C/T polymorphism is associated with an increased risk of developing NPC in a Cantonese population from Guangdong province. Larger studies are required to confirm our findings and unravel the underlying mechanisms.
| S-EPMC6942584 | biostudies-literature
Project description:BackgroundTuberculosis (TB) is an infectious disease, caused by mycobacterium tuberculosis infection, which is associated with oxidative stress and the induction of host antioxidants to counteract this response. The heme oxygenase-1 (HO-1) single nucleotide polymorphisms have been reported to be associated with many critical diseases. Our purpose was to investigate the association of HO-1 single nucleotide polymorphisms with the susceptibility to tuberculosis in Chinese Han population.MethodsA case-control study was performed on Chinese Han population, and a group of 638 TB patients was compared to 610 healthy controls. Three single nucleotide polymorphisms (SNPs) including rs2071746, rs5995098, and rs8140669 were genotyped using the MassARRAY platform. The genotype frequency was compared between TB patients and healthy controls. The association between the three genetic models of the three SNPs and TB risk was further investigated.ResultsThe results showed that, in the case of additive model, there was significant difference of the genotype frequencies of SNP rs8140669 between the TB patients and control groups (P = .038). In the case of dominant model, the genotype frequencies of SNP rs8140669 may have difference between the two cohorts (P = .051), while the allele frequency and genotype distribution for other two SNPs showed no significant difference between the two groups (P > .05).ConclusionHO-1 polymorphism was associated with TB susceptibility in Chinese Han population.
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