Dataset Information

Association of three SNPs in the PARP-1 gene with Hashimoto's thyroiditis.

ABSTRACT: Poly(ADP-ribose) polymerase-1 (PARP-1) has a vital role in the progression of the inflammatory response, and its inhibition confers protection in various models of inflammatory disorders. Therefore, we investigated the effect of promoter and exon variations of the PARP-1 gene on the risk for the inflammatory disease Hashimoto's thyroiditis (HT). This case-control association study was comprised of 141 HT patients and 150 controls from a group of women in a Turkish population. Two polymorphisms in the promoter region of the PARP-1 gene, rs2793378 and rs7527192, were analyzed using the PCR-RFLP method. In addition, single nucleotide polymorphism (SNP) rs1136410, which is located at codon 762, was analyzed using bidirectional sequencing. The combined genotype and haplotype analyses of these polymorphisms were performed using SPSS 18 and Haploview 4.2. The results were statistically analyzed by calculating the odds ratios and 95% confidence interval using Pearson's ? (2)-test and Fisher's exact test (two-sided). Although we had a number of significant results, the associations became nonsignificant following a Bonferroni correction for multiple comparisons. Nonetheless, a protective factor against HT was still observed for the heterozygous genotype (TC) of SNP rs1136410 (P=0.001), even following Bonferroni correction, and according to the rs2793378-rs7527192 combined analysis, the occurrence of the TT/GA combined genotype was significantly higher in the controls (P=0.007). These results prove that the heterozygosity of SNP rs1136410 provides a protective effect against HT disease in a group of women in a Turkish population.

SUBMITTER: Koc A

PROVIDER: S-EPMC4785522 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Association of three SNPs in the PARP-1 gene with Hashimoto's thyroiditis.

Koc Arzuhan A Aydin Sayitoglu Muge M Karakurt Funda F Batar Bahadir B Niyazoglu Mutlu M Celik Ozlem O Onaran Ilhan I Tasan Ertugrul E Sultuybek Gonul Kanigur GK

Human genome variation 20141030

Poly(ADP-ribose) polymerase-1 (PARP-1) has a vital role in the progression of the inflammatory response, and its inhibition confers protection in various models of inflammatory disorders. Therefore, we investigated the effect of promoter and exon variations of the PARP-1 gene on the risk for the inflammatory disease Hashimoto's thyroiditis (HT). This case-control association study was comprised of 141 HT patients and 150 controls from a group of women in a Turkish population. Two polymorphisms i ...[more]

PMID: 27081507

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Project description:ObjectiveTo investigate the relation of Hashimoto's thyroiditis (HT) to cholelithiasis and cholecystectomy in a retrospective population-based study.SettingCohort study.ParticipantsWe identified 1268 patients aged ?20 years with HT between 2000 and 2010 as the study cohort.Primary and secondary outcome measuresPatients without HT were randomly selected from a database and propensity-matched with the study cohort at a 1:4 ratio according to age, sex, comorbidities and year of the index date to measure the incidence of cholelithiasis and cholecystectomy.ResultsThe cumulative incidence of cholelithiasis was higher in the HT cohort than that in the non-HT cohort (log-rank test, p<0.001), with a 1.91-fold higher risk of choleithiasis (95% CI 1.58 to 2.33) after adjustment for comorbidities. The age-specific relative risk of cholelithiasis in the HT cohort was higher than that in the non-HT cohort for patients aged ?50 years (adjusted HR (aHR)=2.59, 95%?CI 1.33 to 5.03). The sex-specific relative risk of cholelithiasis in the HT cohort was higher than that in the non-HT cohort for women (aHR=1.99, 95%?CI 1.63 to 2.44). Compared with those in the non-HT cohort, patients with HT without (aHR=1.95, 95%?CI 1.53 to 2.49) and with (aHR=1.94, 95%?CI 1.51 to 2.49) thyroxine treatment were associated with a higher risk of cholelithiasis. Compared with those in the non-HT cohort, patients with HT had a higher risk of cholecystectomy (aHR=1.28, 95%?CI 1.02 to 1.61).ConclusionsInability to obtain information on several potential confounding factors and misclassification of important covariates are the major limitations of the study. Our study indicates HT per se was associated with the development of cholelithiasis, which has been validated by the association between cholecystectomy and HT. Surveys and health education on cholelithiasis in women aged ?50 years with HT should be considered by clinicians, and further prospective research should be done on this topic.

Project description:ObjectiveHashimoto's thyroiditis, also known as chronic lymphocytic thyroiditis, is a common autoimmune thyroiditis, which mostly occurs in young and middle-aged women. It can be manifested as hyperthyroidism in the early stage; hypothyroidism may appear with the progression of the disease. Studies have shown that multiple factors such as heredity, environment, and autoimmunity are involved in the pathogenesis, but the specific mechanism is not clear. In our study, we tried to find key genes and potential molecular mechanisms of Hashimoto's thyroiditis to provide new ideas for the therapeutic targets of Hashimoto's thyroiditis.MethodGSE138198 and GSE54958 were downloaded from the GEO database, and two datasets were combined for analysis. The combined data were normalized to identify the differentially expressed genes (DEGs), and GO and KEGG enrichment analyses were performed. Protein-protein interaction (PPI) networks and hub genes between DEGs were identified. We also used the miRWalk database to identify regulatory miRNAs associated with expressions of DEGs.ResultWe identified 182 DEGs (160 upregulated and 22 downregulated) between Hashimoto's disease patients and the healthy control group. GO analysis showed that DEGs were mostly concentrated in detection of chemical stimulus involved in sensory perception, intermediate filament cytoskeleton, and olfactory receptor activity. KEGG pathway analysis showed that DEGs were mainly related to olfactory transduction. Some members of the KRTAP family and HTR5A, KNG1, DRD3, HTR1D, TAS2R16, INSL5, TAS2R42, and GRM7 are the most important hub genes in the PPI network. In addition, we recognized that OTUD4, LLPH, and ECHDC1 were the most important hub genes in the miRNA-target gene network.ConclusionIn this study, a series of bioinformatics analyses of DEGs were performed to identify the key genes and pathways associated with Hashimoto's thyroiditis. These genes and pathways provide a more detailed understanding of the pathogenesis of Hashimoto's disease and provide new ideas for the therapeutic targets of Hashimoto's thyroiditis.

Dataset Information

Association of three SNPs in the PARP-1 gene with Hashimoto's thyroiditis.

Publications

Association of three SNPs in the PARP-1 gene with Hashimoto's thyroiditis.

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