Association study between polymorphisms in selenoprotein genes and susceptibility to Kashin-Beck disease

Xiong, Yongmin; Mo, Xiaoyan; Zou, Xiu; Song, Ronghua; Sun, Wenyan; Lu, Wei; Chen, Q.; Yu, Yan; Zang, Wei-Jin

doi:10.1016/j.joca.2010.02.004

Cited by 108 publications

(72 citation statements)

References 29 publications

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“…All the evidences revealed that genes might play a key role in the pathogenesis of KBD besides environmental factors. Recently, some susceptibility genes SNPs such as GPX1 [33], IL-1β [34], etc. have also been reported.…”

Section: Discussionmentioning

confidence: 99%

Association of TNF-α and Fas gene promoter polymorphism with the risk of Kashin–Beck disease in Northwest Chinese population

et al. 2012

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The objective of this study is to investigate the relationship between single-nucleotide polymorphisms (SNPs) of the tumor necrosis factor-α (TNF-α) and Fas genes and Kashin-Beck disease (KBD) in Shaanxi province, Northwest in China. Blood samples of 388 residents were collected from 14 KBD villages in Linyou and Yongshou counties, Shaanxi, Northern of China. One hundred eighty-six cases with KBD and 202 cases of health in KBD areas were diagnosed by "Diagnosis Criterion of Kashin-Beck disease in China (WS/T207- 2010)". The TNF-α -308G/A, TNF-α -238G/A, and Fas -670A/G SNPs were determined by polymerase chain reaction-restriction fragment length polymorphism in combination with sequence analysis in KBD and healthy control groups. The genotypes and allele frequencies distribution of these SNPs were then analyzed. TNF-α -308A allele frequency in KBD patients were significantly higher than that in healthy controls. Although TNF-α -238 genotypes and allele frequencies were not significantly different between KBD patients and the healthy controls, GA genotype and A allele frequency in KBD patients were higher than those in healthy controls. The TNF-α -308G/A SNPs were associated with the susceptibility of KBD.

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Section: Discussionmentioning

confidence: 99%

Association of TNF-α and Fas gene promoter polymorphism with the risk of Kashin–Beck disease in Northwest Chinese population

et al. 2012

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“…Albeit, after multiple testing, no significant associations remained. Xiong et al (82) evaluated whether the D2-Thr92Ala variant could influence the risk of Kashin-Beck disease, a chronic endemic osteochondropathy found in selenium-deficient areas of China, south-east Siberia, and North-Korea, and found no significant association of this genetic variant with the disease. The interaction between selenium or iodine deficiency, genetic variation in deiodinases and health effects is a scarcely investigated domain and may be a worthwhile field of future research.…”

Section: Iodine and Selenium Deficiency And Effect Of Polymorphisms Omentioning

confidence: 99%

GENETICS IN ENDOCRINOLOGY: Genetic variation in deiodinases: a systematic review of potential clinical effects in humans

Verloop

Dekkers

Peeters

et al. 2014

European Journal of Endocrinology

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Iodothyronine deiodinases represent a family of selenoproteins involved in peripheral and local homeostasis of thyroid hormone action. Deiodinases are expressed in multiple organs and thyroid hormone affects numerous biological systems, thus genetic variation in deiodinases may affect multiple clinical endpoints. Interest in clinical effects of genetic variation in deiodinases has clearly increased. We aimed to provide an overview for the role of deiodinase polymorphisms in human physiology and morbidity. In this systematic review, studies evaluating the relationship between deiodinase polymorphisms and clinical parameters in humans were eligible. No restrictions on publication date were imposed. The following databases were searched up to August 2013: Pubmed, EMBASE (OVID-version), Web of Science, COCHRANE Library, CINAHL (EbscoHOST-version), Academic Search Premier (EbscoHOST-version), and ScienceDirect. Deiodinase physiology at molecular and tissue level is described, and finally the role of these polymorphisms in pathophysiological conditions is reviewed. Deiodinase type 1 (D1) polymorphisms particularly show moderate-to-strong relationships with thyroid hormone parameters, IGF1 production, and risk for depression. D2 variants correlate with thyroid hormone levels, insulin resistance, bipolar mood disorder, psychological well-being, mental retardation, hypertension, and risk for osteoarthritis. D3 polymorphisms showed no relationship with inter-individual variation in serum thyroid hormone parameters. One D3 polymorphism was associated with risk for osteoarthritis. Genetic deiodinase profiles only explain a small proportion of inter-individual variations in serum thyroid hormone levels. Evidence suggests a role of genetic deiodinase variants in certain pathophysiological conditions. The value for determination of deiodinase polymorphism in clinical practice needs further investigation.

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“…IDH2 plays a role in the metabolism of glutathione, which composes the important glutathione/glutathione disulfide anti-oxidant protecting system of the human body [18]. As a major component of the glutathione/glutathione disulfide anti-oxidant protection system, glutathione peroxidase1 (GSH-Px1) is known to be associated with the risk of KBD [19]. The protective effect of GSH-Px1 largely depends on the presence of selenium, while low selenium is an important environmental risk factor for KBD.…”

Section: Discussionmentioning

confidence: 99%

Pathways related to mitochondrial dysfunction in cartilage of endemic osteoarthritis patients in China

Li¹,

Wang

Guo³

et al. 2012

Sci. China Life Sci.

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In this paper, we present the first evidence of differences in the mitochondria-related gene expression profiles of adult articular cartilage derived from patients with Kashin-Beck disease and normal controls. The expression of 705 mitochondria-related genes was analyzed by mitochondria-related gene expression analysis and ingenuity pathways analysis. Mitochondria-related gene expression analysis identified 9 up-regulated genes in Kashin-Beck disease based on their average expression ratio. Three canonical pathways involved in oxidative phosphorylation, apoptosis signaling and pyruvate metabolism were identified, which indicate the involvement of mitochondrial dysfunction in the pathogenesis of Kashin-Beck disease. Kashin-Beck disease, microarray, mitochondrial dysfunction, IPA analysis Citation:Li C Y, Wang W Z, Guo X, et al. Pathways related to mitochondrial dysfunction in cartilage of endemic osteoarthritis patients in China.

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Association study between polymorphisms in selenoprotein genes and susceptibility to Kashin-Beck disease

Cited by 108 publications

References 29 publications

Association of TNF-α and Fas gene promoter polymorphism with the risk of Kashin–Beck disease in Northwest Chinese population

Association of TNF-α and Fas gene promoter polymorphism with the risk of Kashin–Beck disease in Northwest Chinese population

GENETICS IN ENDOCRINOLOGY: Genetic variation in deiodinases: a systematic review of potential clinical effects in humans

Pathways related to mitochondrial dysfunction in cartilage of endemic osteoarthritis patients in China

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