Genetic variations in the CLNK gene and ZNF518B gene are associated with gout in case–control sample sets

Jin, Tianbo; Ren, Yichao; Shi, Xugang; Mayer, Jiří; He, Na; Tian, Feng; Yuan, Dongya; Kang, Longli

doi:10.1007/s00296-015-3215-3

Cited by 17 publications

(15 citation statements)

References 26 publications

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“…DNA concentration was determined by the NanoDrop 2000C spectrophotometer (Thermo Scientific, Waltham, MA, USA). Sequenom MassARRAY Assay Design 3.0 software (San Diego, CA, USA) was used to design primers for amplification process and single base extension reactions [ 41 ]. SNP genotyping was carried out by Sequenom MassARRAY RS1000 (Sequenom, SanDiego, CA).…”

Section: Methodsmentioning

confidence: 99%

Association of SNPs in the TIMP-2 gene and large artery atherosclerotic stroke in southern Chinese Han population

et al. 2017

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Tissue inhibitor of matrix metalloproteinase 2 (TIMP-2) regulates the extracellular matrix degradation, which involved in vascular remodeling and dysfunction, destabilization of atherosclerotic plaque and many other pathological processes. The rupture of atherosclerotic plaque is the trigger of Large artery atherosclerotic (LAA) stroke. We speculate that the Single nucleotide polymorphisms (SNPs) in TIMP-2 may have an association with LAA stroke. To prove this hypothesis, we conducted this case-control study. 250 LAA stroke patients and 250 healthy controls were collected for the analysis of TIMP-2 polymorphisms. Among six SNPs, we detected no deviation from Hardy-Weinberg equilibrium in control group. There was a significant difference in rs4789936 T allele frequency between patient and control groups (OR = 0.68, 95% CI = 0.51–0.91, P = 0.009), which means lower risk of LAA stroke. We observed the rs4789936 had a decreased risk of LAA stroke according to the codominant (OR = 0.64, 95% CI = 0.44–0.92, P = 0.026), dominant (OR = 0.62, 95% CI = 0.43-0.88, P = 0.008), overdominant (OR = 0.68, 95% CI = 0.48–0.98, P = 0.039), log-additive (OR = 0.68, 95% CI = 0.51–0.91, P = 0.009) models analyses. However, these findings could only validate under dominant model (OR = 0.65, 95% CI = 0.42–1.00, P = 0.049) after adjustment of gender and age. The results indicate a potential association between TIMP-2 variants and LAA stroke risk in southern Chinese Han population.

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Section: Methodsmentioning

confidence: 99%

Association of SNPs in the TIMP-2 gene and large artery atherosclerotic stroke in southern Chinese Han population

et al. 2017

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“…CLNK encodes a mast cell immunoreceptor signal transducer, a positive regulator in immunoreceptor signaling ( Wu and Koretzky, 2004 ). Haplotype analysis has shown that the TCATTCTGA haplotype of CLNK is more frequent among patients with gout ( Jin et al, 2015 ).…”

Section: The Susceptible Genes For Vitiligo From Gwasmentioning

confidence: 99%

Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci

et al. 2016

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Vitiligo is an autoimmune disease with a strong genetic component, characterized by areas of depigmented skin resulting from loss of epidermal melanocytes. Genetic factors are known to play key roles in vitiligo through discoveries in association studies and family studies. Previously, vitiligo susceptibility genes were mainly revealed through linkage analysis and candidate gene studies. Recently, our understanding of the genetic basis of vitiligo has been rapidly advancing through genome-wide association study (GWAS). More than 40 robust susceptible loci have been identified and confirmed to be associated with vitiligo by using GWAS. Most of these associated genes participate in important pathways involved in the pathogenesis of vitiligo. Many susceptible loci with unknown functions in the pathogenesis of vitiligo have also been identified, indicating that additional molecular mechanisms may contribute to the risk of developing vitiligo. In this review, we summarize the key loci that are of genome-wide significance, which have been shown to influence vitiligo risk. These genetic loci may help build the foundation for genetic diagnosis and personalize treatment for patients with vitiligo in the future. However, substantial additional studies, including gene-targeted and functional studies, are required to confirm the causality of the genetic variants and their biological relevance in the development of vitiligo.

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“…The DNA concentration and quality was measured using a NanoDrop Lite spectrophotometer (Thermo Fisher Scientific, Waltham, MA, USA) . The genotyping process was designed and conducted on the MassARRAY iPLEX system (Agena Bioscience, San Diego, CA, USA) using a standard protocol . Data processing and analysis was performed using the Agena Bioscience TYPER, version 4.0 (http://agenabio.com/resources/publication-library/).…”

Section: Methodsmentioning

confidence: 99%

Association between DIO2 polymorphism and the risk of Kashin–Beck disease in the Tibetan population

Jin

Wang

et al. 2019

The Journal of Gene Medicine

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Background: Kashin-Beck disease (KBD) is a local, multiple and deformable osteoarthropathy, mostly occurring in Tibet. Type 2 iodothyronine deiodinase (DIO2) is implicated in the activation of thyroid hormones to which the bones are very sensitive. Therefore, it is necessary to explore the association between KBD and DIO2 in the Tibetan population. Methods:We carried out a case-control study among 316 cases and 320 controls from a Tibetan population. Seven single nucleotide polymorphisms in DIO2 were selected and genotyped using the Agena MassARRAY platform (Agena Bioscience, San Diego, CA, USA). Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by logistic regression analysis. HaploReg (https://pubs.broadinstitute.org/ mammals/haploreg/haploreg.php) and GTEx (http://www.gtexportal.org) databases were applied for functional assessment of the polymorphisms. Results:The "A/C" genotype of rs1352815 (OR = 3.18, 95% CI = 1.14-8.85, p = 0.027) and the "A/G" genotype of rs1388382 (OR = 3.80, 95% CI = 1.30-11.11, p = 0.015) were associated with the susceptibility of KBD under the codominant model. With gender stratification analysis, rs1388382 showed obvious evidence for correlation with an elevated risk of KBD in females under the codominant model (OR = 3.32, 95% CI = 1.06-10.41, p = 0.039). Conclusions:The results obtained in the present study indicate that DIO2 polymorphisms rs1352815 and rs1388382 were correlated with KBD susceptibility among Tibetans, which also sheds new light on the role of DIO2 in the development of KBD. KEYWORDScase-control study, DIO2, Kashin-Beck disease, single nucleotide polymorphisms, Tibetan

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Genetic variations in the CLNK gene and ZNF518B gene are associated with gout in case–control sample sets

Cited by 17 publications

References 26 publications

Association of SNPs in the TIMP-2 gene and large artery atherosclerotic stroke in southern Chinese Han population

Association of SNPs in the TIMP-2 gene and large artery atherosclerotic stroke in southern Chinese Han population

Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci

Association between DIO2 polymorphism and the risk of Kashin–Beck disease in the Tibetan population

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