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Association Between Three SNPs and Thromboangiitis Obliterans in Xinjiang Uyghur Population.

ABSTRACT: Thromboangiitis obliterans (TAO), also called Buerger's disease, is a chronic peripheral vascular occlusive disease. It is an obliterative vasculitis characterized by arterial thrombosis and strongly associated with tobacco exposure. The pathogenesis and etiology of TAO are not well understood, but genetic factors may be important in its development. A case-control study was undertaken to identify genetic factors potentially involved in the pathogenesis of TAO in a Xinjiang Uyghur population of China, where TAO is common.We ascertained 177 TAO patients by clinical screening and 86 healthy individuals from the HAPMAP database. The genotypes of single-nucleotide polymorphisms (SNPs) of the participants were identified using the Affymetrix Genome-Wide Human SNP Array 6.0 to perform a genome wide association study (GWAS). The association between the SNPs and incidence of TAO was quantified using race stratification exposure.Through a case-control GWAS study 26 SNPs were significantly associated with incidence of TAO following a Bonferroni correction. However, after genomic control correction for population stratification only three of these SNPS were highly significantly associated with TAO: rs376511 in IL17RC (OR = 24.4, 95% CI:8.68 - 68.62, p < 0.0001), rs7632505 in SEMA5B (OR = 29.47, 95% CI:7.16 - 121.3, p < 0.0001), and rs10178082 (OR = 18.09, 95% CI: 6.56 - 49.92, p < 0.0001) showed a significant risk of TAO in the Uyghur population.This study shows an association between these 3 SNPs and susceptibility to TAO in the Uyghur population, suggesting that polymorphisms in the IL-17RC and Sema 5B genes may pre-dispose individuals in this population to development of TAO. These findings require replication.

SUBMITTER: Shi ZF

PROVIDER: S-EPMC4761799 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature

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Association Between Three SNPs and Thromboangiitis Obliterans in Xinjiang Uyghur Population.

Shi Zhen-Feng ZF Fang Qing-Bo QB Limu Sai S Jiareke Tang T Ge Xiao-Hu XH

Genetic testing and molecular biomarkers 20160201 2

<h4>Background</h4>Thromboangiitis obliterans (TAO), also called Buerger's disease, is a chronic peripheral vascular occlusive disease. It is an obliterative vasculitis characterized by arterial thrombosis and strongly associated with tobacco exposure. The pathogenesis and etiology of TAO are not well understood, but genetic factors may be important in its development. A case-control study was undertaken to identify genetic factors potentially involved in the pathogenesis of TAO in a Xinjiang Uy ...[more]

PMID: 26829209

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Project description:To explore the association between CETP gene polymorphisms and metabolic syndrome (MS), as well as the relationship between the CETP gene polymorphisms and each component of MS.A total of 571 individuals which were randomly selected from 5692 Uyghur adults were subdivided into two groups, including 280 patients with MS and 291 control subjects, using the group-matching method after matching for gender. We detected CETP polymorphisms (rs5882, rs1800775, rs3764261, rs12149545, rs711752, and rs708272) by using the Snapshot method.(1) Significant differences were found involving the frequency distribution of genotypes and alleles of rs1800775, rs3764261, rs12149545, rs711752, and rs708272 between the control and MS groups (all p < 0.05). (2) rs1800775, rs3764261, rs12149545, rs711752, and rs708272 polymorphisms were significantly related to the risk of MS (all p < 0.05). (3) The rs1800775 polymorphism was associated with high fasting blood glucose levels and low high density lipoprotein cholesterol (HDL-C); rs3764261 and rs12149545 polymorphisms were associated with all components of MS except high blood pressure; rs711752 and rs708272 polymorphisms were associated with low HDL-C (all p < 0.05). (4) Complete linkage disequilibrium (LD) was identified for two pairs of single nucleotide polymorphisms (SNPs) (rs3764261 and rs12149545 (D' = 1.000, r² = 0.931), rs711752 and rs708272 (D' = 1.000, r² = 0.996)). (5) The A-G-G-G-C (p = 0.013, odds ratio [OR] = 0.622, 95% confidence interval [95% CI] = 0.427-0.906) and A-T-A-A-T (p < 0.001, OR = 0.519, 95% CI = 0.386-0.697) haplotypes were more frequent in the control group than in the case group. Conclusions: The rs1800775, rs3764261, rs12149545, rs711752, and rs708272 polymorphisms of CETP were associated with MS and its components among the Uyghur ethnic group. Complete LD was found between two pairs of SNPs (rs3764261 and rs12149545, rs711752, and rs708272). The A-G-G-G-C and A-T-A-A-T haplotypes might be protective factors for MS.

Project description:BackgroundWith the gradual aging of the population, geriatric depression has become a major public health issue in China owing to its overall upward trend and associated negative socio-economic impact. Dearth of information regarding the burden and correlates of geriatric depression among Uyghur minority population in Xinjiang Autonomous Region, called for a comprehensive survey involving representative sample for designing efficient targeted intervention to control this disabling disease.MethodsA cross-sectional study was conducted among 1329 consenting Uyghur elderly in 2011 in six randomly selected communities/villages in Xinjiang. Information about socio-demographics, behavior, negative life-events, satisfaction regarding income/quality of life and other chronic diseases were collected while assessment of geriatric depression was done using Geriatric Mental State Schedule (GMS).ResultsAmong these participants, majority were currently married, had attended elementary school or less, had an average annual family income of less than 3000 Yuan/person, had strong religious beliefs while 10.61% (2.77% in urban and 23.60% in rural area) had geriatric depression (5.91% among male and 14.58% among females). 61.83% were suffering from other chronic diseases, 96.16% could take care of themselves and 39.28% had experienced negative events during last two years. Religious belief (AOR = 3.92, 95% CI 1.18-13.03), satisfaction regarding quality of life (AOR = 0.53, 95% CI 0.37-0.84) and income (AOR = 0.75, 95% CI 0.35-1.60), suffering from more chronic diseases (AOR = 1.70, 95% CI 1.42-2.04), experiencing three or more negative events (AOR = 1.72, 95% CI 0.92-3.22) and lack of ability to take self-care (AOR = 2.20, 95% CI 1.09-4.48) were all associated with having geriatric depression with or without adjustment for gender, education and occupation.ConclusionHigh prevalence of geriatric depression among Uyghur elderly in Xinjiang seemed to call for urgent interventions, specifically targeting rural residents, who experienced more negative life-events, were suffering from chronic diseases and were dissatisfied with their income and quality of life.

Project description:ObjectiveThromboangiitis obliterans (TAO) is one of the most common types of peripheral arterial disease (PAD). This study aimed to explore the characteristics of the top 100 most cited articles in the TAO.MethodsA bibliometric analysis based on the Web of Science (WOS) database was performed. Literature was retrieved and ranked by the citations. Listed below are the top 100 citations, including original articles, reviews, full-length proceeding papers, and case reports that were included for analysis. The type of literature, research areas, and languages were recorded. The trends of citations including the total citations, an analysis of publication and citation numbers were conducted each year. We analyzed citations from highly cited countries, authors, institutions, and journals. Research hotspots were gathered by a visualized analysis of author keywords.ResultsMost of the highly cited literature was original articles. A rising trend was observed in the number of citations per year. The peaks in the number of highly cited articles appeared in the year 1998 and 2006. The majority of the articles focused on the cardiovascular system and surgery. Journal of Vascular Surgery published most of the highly cited articles. The USA and Japan contributed nearly half the number of highly cited articles. Mayo Clinic and Nagoya University were highly cited institutions. Shionoya S and Olin JW were both the author with the largest number of citations and the most highly cited author in the reference. Articles that were highly cited most often addressed the following topics: "vasculitis", "autoimmune disease", and "critical limb ischemia". Keywords that were mostly used in recent years were "stem cell therapy", "progenitor therapy", and "immunoadsorption". The detection of bursts of author keywords showed the following: "permeability", "differentiation", and "critical limb ischemia" are recent keywords that have burst.ConclusionsIn this study, the highly cited contributors in the field of TAO research were identified. Most cited articles in the top 100 focused on the cardiovascular system and surgery. Treatment and pathophysiology including stem cell therapy, progenitor therapy, genetics, autoimmunity, and inflammation are the hotspots of TAO.

Dataset Information

Association Between Three SNPs and Thromboangiitis Obliterans in Xinjiang Uyghur Population.

Publications

Association Between Three SNPs and Thromboangiitis Obliterans in Xinjiang Uyghur Population.

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