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

Zhao, Quan-ming; Guo, Xiong; Lai, Jianghua; Tan, Wenfeng; Wang, Weizhuo; Dang, Xiaoqian

doi:10.1007/s10067-012-1975-7

Cited by 12 publications

(3 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The clinical manifestations and pathologic changes of KBD are generally similar to that of osteoarthritis (OA) [5], suggesting the common genetic mechanism shared by KBD and OA. This hypothesis is supported by previous genetic studies, which identified common susceptibility genes for KBD and OA, such as TNF and HLA-DRB1 [6][7][8][9][10]. Multiple GWAS of OA have been conducted by now.…”

Section: Introductionsupporting

confidence: 56%

“…In rabbit knees, interleukin-1 (IL1) and tumor necrosis factor (TNF) could enhance the expression of substance P and accelerate cartilage degradation [19]. It is interesting that IL1 and TNF have been found to involve in the articular cartilage damage of KBD [6,20,21]. Given the roles of TACR1 in the functional maintenance of articular cartilage and pathogenesis of arthritis, it is reasonable to infer that TACR1 contributed to the joint damage of KBD.…”

Section: Discussionmentioning

confidence: 97%

See 1 more Smart Citation

SWGDT: A sliding window-based genotype dependence testing tool for genome-wide susceptibility gene scan

Wen

Hao

Guo

et al. 2015

Journal of Biomedical Informatics

Self Cite

View full text Add to dashboard Cite

Genome-wide association studies (GWAS) are a powerful tool for pathogenetic studies of complex diseases. The rich genetic information of GWAS data is mostly not fully utilized. In this study, we developed a sliding window-based genotype dependence testing tool SWGDT. SWGDT can be applied to GWAS data for genome-wide susceptibility gene scan utilizing known causal gene information. To evaluate the performance of SWGDT, a real GWAS dataset of Kashin-Beck disease (KBD) was analyzed. Immunohistochemistry was also performed to validate the relevance of identified gene with KBD. SWGDT analysis of KBD GWAS data identified a novel candidate gene TACR1 for KBD. Immunohistochemistry observed that the expression level of TACR1 protein in KBD articular cartilage was significantly higher than that in healthy articular cartilage. The real GWAS data analysis results illustrate the performance of SWGDT for genome-wide susceptibility gene scan. SWGDT can help to identify novel disease genes that may be missed by GWAS.

show abstract

Section: Introductionsupporting

confidence: 56%

Section: Discussionmentioning

confidence: 97%

SWGDT: A sliding window-based genotype dependence testing tool for genome-wide susceptibility gene scan

Wen

Hao

Guo

et al. 2015

Journal of Biomedical Informatics

Self Cite

View full text Add to dashboard Cite

show abstract

“…Various causes have been suggested, including: selenium (Se) deficiency alone or in combination with iodine deficiency [7–8]; ingesting of grains with mycotoxins [4]; and excess of fulvic acid, but none of the proposed explanations is entirely satisfactory [9]. In recent years, more attention has been paid to potential genetic etiologies of KBD [10–12]. The Yongshou KBD study was designed to assess potential genetic etiologies of KBD.…”

Section: Introductionmentioning

confidence: 99%

Radiographic features of hand osteoarthritis in adult Kashin-Beck Disease (KBD): the Yongshou KBD study

Cao

Renner

et al. 2015

Osteoarthritis and Cartilage

View full text Add to dashboard Cite

Objective Kashin-Beck disease (KBD) is a rare and severe osteoarthropathy endemic to China. We evaluated the frequency and patterns of hand radiographic osteoarthritis (rOA) in adults with and without KBD. Methods Han Chinese (N=438) from Yongshou County of central China underwent right hand radiography for determining case status. Presence of KBD was based on characteristic radiographic deformities of articular ends of bones including articular surface depression, carpal crowding, any subchondral bone deformities in the proximal end of phalanges or first metacarpal bone, or the distal ends of metacarpal bones 2–5, and any bony enlargement with deformity of the distal ends of phalanges. Hand rOA severity was determined by osteophyte (OST), joint space narrowing (JSN), and Kellgren Lawrence (KL) grades. Results This study included 127 KBD and 311 non-KBD adults of similar mean age (39 years) and body mass index (21 kg/m2). Inter- and intra-rater reliability for radiographic determination of case status and rOA features was high (kappa 0.72–0.96). Compared to non-KBD, KBD adults had significantly more severe hand rOA of the thumb, distal interphalangeal (DIP), proximal interphalangeal (PIP) and metacarpophalangeal (MCP) joints. Only KBD adults had end-stage CMC disease. In KBD, DIPs and PIPs were more affected than MCPs and the frequency of osteophytes was significantly higher in PIPs than DIPs. Conclusions Compared with age-matched adults from the same area and farming occupation, KBD hand rOA was more widespread and severe, particularly of PIPs and CMCs. The ability to differentiate adult KBD from non-KBD hand rOA will facilitate genetic analyses of the vast majority of affected individuals.

show abstract

Field synopsis and meta-analyses of genetic epidemiological evidence for Kashin–Beck disease, an endemic osteoarthropathy in China

et al. 2016

View full text Add to dashboard Cite

Kashin-Beck disease (KBD) is a chronic degenerative osteoarthropathy with unclear etiology. To provide current evidence supporting a genetic predisposition for KBD, we conducted a systematic review and meta-analysis of published literature on the genetic epidemiology of KBD. The PubMed, China National Knowledge Infrastructure and Wan Fang Data were searched up to August 2015 for articles published in English and Chinese. Genome-wide and exome sequencing, linkage, and case-control association studies for any genetic variants associated with KBD were included. Meta-analysis was performed for all single nucleotide polymorphisms (SNPs) that were evaluated in two or more studies. The effect size was summarized as odds ratios (ORs) with 95 % confidence intervals (CIs) by fixed and random effects models. A total of 24 articles were systematically reviewed. Eleven short tandem repeats on chromosomes 2, 11 and 12, 34 SNPs in 12 genes, as well as copy number variant 452 were identified as KBD susceptibility factors in individual studies. The meta-analysis of the GPX1 rs1050450, DIO2 rs225014, TrxR2 rs5748469 and HLA-DRB1 rs7745040 failed to reveal any associations with KBD. However, the meta-analysis of HLA-DRB1 rs9275295 allele A was associated with KBD (OR = 1.737, 95 % CI: 1.002-3.012). In addition, seven haplotypes in GPX1, GPX4, HLA-DRB1 and GDF5 genes also showed significant associations with KBD. In conclusions, our study could identify a number of genetic markers associated with KBD. However, the evidence does not currently support a strong association between the specific variants and KBD because of the limited number of studies, and in the future, more rigorous studies are needed to confirm KBD's links with these variants.

show abstract

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

Cited by 12 publications

References 33 publications

SWGDT: A sliding window-based genotype dependence testing tool for genome-wide susceptibility gene scan

SWGDT: A sliding window-based genotype dependence testing tool for genome-wide susceptibility gene scan

Radiographic features of hand osteoarthritis in adult Kashin-Beck Disease (KBD): the Yongshou KBD study

Field synopsis and meta-analyses of genetic epidemiological evidence for Kashin–Beck disease, an endemic osteoarthropathy in China

Contact Info

Product

Resources

About