Browse
Submit Data
Databases
API
Help

Dataset Information

20 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Association between TLR-9 gene rs187084 polymorphism and knee osteoarthritis in a Chinese population.

ABSTRACT: Osteoarthritis (OA) is a complex disease that is induced by many genetic risk variants and other factors. To examine the role of toll-like receptor 9 (TLR-9) in OA patients, we conducted a case-control study involving 215 knee OA (KOA) patients and 215 controls in a Chinese population. Genotyping with a custom-by-design 48-Plex single nucleotide polymorphism Scan™ Kit showed the TLR-9 gene rs187084 polymorphism was associated with an increased risk of KOA. Stratification analyses further validated this finding among old people (age ? 55 years). In conclusion, TLR-9 gene rs187084 polymorphism is positively correlated with susceptibility to KOA, especially among old people. Nevertheless, this finding should be confirmed by larger size studies with more ethnic populations.

SUBMITTER: Zheng M

PROVIDER: S-EPMC5643737 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Association between <i>TLR</i>-9 gene rs187084 polymorphism and knee osteoarthritis in a Chinese population.

Zheng Mingfeng M Shi Shiyuan S Zheng Qi Q Wang Yifan Y Ying Xiaozhang X Jin Yanghui Y

Bioscience reports 20171017 5

Osteoarthritis (OA) is a complex disease that is induced by many genetic risk variants and other factors. To examine the role of toll-like receptor 9 (TLR-9) in OA patients, we conducted a case-control study involving 215 knee OA (KOA) patients and 215 controls in a Chinese population. Genotyping with a custom-by-design 48-Plex single nucleotide polymorphism Scan™ Kit showed the <i>TLR</i>-9 gene rs187084 polymorphism was associated with an increased risk of KOA. Stratification analyses further ...[more]

PMID: 28916728

Similar Datasets

Association between SMAD3 gene rs12901499 polymorphism and knee osteoarthritis in a Chinese population.

Project description:BACKGROUND:Many studies have revealed that transforming growth factor-beta (TGF-?) signals play important roles in maintaining normal status of articular cartilage in human osteoarthritis (OA). However, SMAD3 had inhibitory effect on TGF-?-induced chondrocyte maturation. METHOD:To evaluate the association of SMAD3 genetic variants with the risk of knee OA, we conducted this hospital-based case-control study involving 350 knee patients with OA and 400 controls in a Chinese population. Genotyping was performed using a custom-by-design 48-Plex single-nucleotide polymorphism (SNP) Scan™ Kit. RESULTS:Our results indicate that the GG genotype of rs12901499 could decrease the risk of knee OA compared to AA genotype. However, stratified analyses by sex and age did not obtain positive findings with regard to the association between rs12901499 polymorphism and knee OA risk. CONCLUSION:In conclusion, SMAD3 rs12901499 polymorphism may be involved in the development of knee OA. Larger studies with more diverse ethnic populations are needed to confirm these results.

| S-EPMC6817063 | biostudies-literature

Association between ACE gene I/D polymorphism and knee osteoarthritis in a Chinese population.

Project description:Osteoarthritis (OA) is a degenerative joint disease characterized by joint destruction with cartilage loss and occasional gross derangement of joint integrity. In recent years, several studies have reported the association between angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism and knee OA. However, the results were conflicting. To determine the association between ACE gene I/D polymorphism and knee OA, we conducted a hospital-based case-control study with 282 knee OA cases and 316 controls to investigate the association between ACE gene I/D polymorphism and knee OA susceptibility in a Chinese Han population. The present study found that DD genotype or D allele carriers of ACE gene I/D polymorphism increased the risk of knee OA. Stratification analyses of sex, age, and body mass index (BMI) showed significant associations amongst the groups of females, ?55 years, and abnormal BMI. In addition, the present study made analysis between ACE I/D polymorphism and some clinical features of OA, and found DD genotype of I/D polymorphism was associated with arthralgia. Furthermore, we undertook a meta-analysis together with the present study between this single nucleotide polymorphism (SNP) and knee OA risk. This meta-analysis found that ACE gene I/D polymorphism was associated with increased risk for OA. Stratification analysis of ethnicity in this meta-analysis indicated that I/D polymorphism increased the risk of knee OA amongst the Asians and Caucasians. In conclusion, this case-control study and meta-analysis suggest that ACE gene I/D polymorphism is associated with increased risk for knee OA.

| S-EPMC6390131 | biostudies-literature

Relationship between ADAMTS14/rs4747096 gene polymorphism and knee osteoarthritis in Chinese population.

Project description:To investigate the association between single nucleotide polymorphisms (SNPs) of A disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS) 14 (ADAMTS14) gene and susceptibility to knee osteoarthritis (KOA) in Chinese Han population. Using a case-control design, we enrolled 346 KOA patients and 480 healthy controls. Peripheral blood samples were extracted from each subject. Genotype was determined by sequencing PCR products. The genotype frequencies between cases and controls were compared. The genotype distribution was in accordance with Hardy-Weinberg equilibrium. The minor G allele in case group was significantly higher than in the control group (21.4 compared with 8.8%, P=0.000, odds ratio (OR) = 1.71 (95% confidence interval (CI): 1.39-2.11). The GG genotype and the GG/AG combination were more common in the osteoarthritis (OA) group than in the control group. Compared with AA genotype, the GG (OR = 3.09, 95%CI: 2.01-4.75), AG (OR = 2.55, 95%CI: 1.64-3.96), and GG/AG (OR = 1.57, 95%CI: 1.19-2.07) increased the risk of OA. Multiple logistic confirmed the findings by adjusting some potential factors. Subgroup analysis indicated that the ras4747096 was still significantly associated with KOA. There were no significant differences in allele frequency or genotypes frequency for erythrocyte sedimentation rate and C-reaction protein in OA patients (P>0.05). ADAMTS14 gene polymorphism was associated with KOA, and the GG genotype increased the risk of KOA in Chinese Han population. The ADAMTS14 may be a diagnostic marker and therapeutic target for KOA treatment. The future study should explore the specific molecular mechanism.

| S-EPMC6200697 | biostudies-literature

Association between ADIPOQ gene variants and knee osteoarthritis in a Chinese population.

Project description:A study from Thailand showed no significant association between the adiponectin (ADIPOQ) gene rs1501299 polymorphism and knee osteoarthritis (OA) risk. To investigate this association in a Chinese population, we conducted this case-control study involving 372 knee OA patients and 453 controls. Genotyping via standard PCR and restriction fragment length polymorphism (PCR-RFLP) showed that TT genotype (TT vs. GG: adjusted odds ratio (OR) (95% confidence interval (CI)) = 1.70 (1.01-2.86)) or T allele (T vs. G: adjusted OR (95% CI) = 1.26 (1.02-1.56)) of ADIPOQ gene rs1501299 polymorphism significantly increased the risk of knee OA. Significant associations were also observed in subgroups ?55 years (TT vs. GG: adjusted OR (95% CI) = 2.21 (1.00-4.86)) and body mass index (BMI) < 25 kg/m2 (TT+GT vs. GG: adjusted OR (95% CI) = 1.53 (1.03-2.29)), but not in the subgroup analysis of sex. In conclusion, the ADIPOQ gene rs1501299 polymorphism intensifies the risk of knee OA in this Chinese Han population. Nevertheless, further studies with larger sample sizes in other populations are warranted to verify this finding.

| S-EPMC6395300 | biostudies-literature

Association of matrix Gla protein polymorphism and knee osteoarthritis in a chinese population.

Project description:Several studies have explored the association between matrix Gla protein (MGP) gene polymorphism and knee osteoarthritis (OA) risk; however, they obtained conflicting findings. The present study aims to explore the association of MGP gene polymorphism and OA risk in a Chinese Han population. A total of 256 patients with radiographic knee OA and 327 control subjects were recruited in this case-control study. The genotypes of MGP gene rs1800802 polymorphism was determined by standard PCR and restriction fragment length polymorphism (PCR-RLFP). In this case-control study, we observed that MGP gene rs1800802 polymorphism increased the risk of knee OA. Subgroup analyses also found that rs1800802 polymorphism was related to the elevated risk for knee OA among the female, smoker, drinker, and body mass index (BMI) ≥25 kg/m2 groups. In conclusion, this study shows that MGP gene rs1800802 polymorphism is associated with increased risk for knee OA in Chinese Han population and the rs1800802 polymorphism may be a diagnostic marker of radiographic knee OA.

| S-EPMC6350040 | biostudies-literature

The association between MMP-1 gene rs1799750 polymorphism and knee osteoarthritis risk.

Project description:Matrix metalloproteinase 1 (MMP-1) degrades cartilage, which may result in osteoarthritis (OA) development. Several studies have explored the association between MMP-1 gene rs1799750 polymorphism and OA in different populations. However, the results are inconsistent. The aim of this case-control study was to investigate the association between MMP-1 gene rs1799750 polymorphism and knee OA in a Chinese population. The present study included 308 cases and 404 controls. Genotyping was performed using standard polymerase chain reaction and restriction fragment length polymorphism. The present study found that 2G2G genotype (2G2G vs 1G1G: OR & 95% CI, 2.28 (1.47-3.53), P<0.001; 2G2G + 1G2G vs 1G1G: OR & 95% CI, 1.61 (1.15-2.24), P=0.005; 2G2G vs 1G2G + 1G1G: OR & 95% CI, 1.84 (1.26-2.68), P=0.002) or 2G allele carriers (2G vs 1G: OR & 95% CI, 1.48 (1.20-1.83), P<0.001) of MMP-1 gene rs1799750 polymorphism increased the risk of OA. In conclusion, this case-control study confirms that MMP-1 gene rs1799750 polymorphism increases the risk of knee OA in Chinese Han population.

| S-EPMC6146290 | biostudies-literature

Lack of association between the CALM1 core promoter polymorphism (-16C/T) and susceptibility to knee osteoarthritis in a Chinese Han population.

Project description:BACKGROUND: CALM1 gene encodes calmodulin (CaM), an important and ubiquitous eukaryotic Ca2+-binding protein. Several studies have indicated that a deficient CaM function is likely to be involved in the pathogenesis of osteoarthritis (OA). Using a convincing genome-wide association study, a Japanese group has recently demonstrated a genetic association between the CALM1 core promoter polymorphism (-16C/T transition SNP, rs12885713) and OA susceptibility. However, the subsequent association studies failed to provide consistent results in OA patients of differently selected populations. The present study is to evaluate the association of the -16C/T polymorphism with knee OA in a Chinese Han population. METHODS: A case-control association study was conducted. The polymorphism was genotyped in 183 patients who had primary symptomatic knee OA with radiographic confirmation and in 210 matched controls. Allelic and genotypic frequencies were compared between patients and control subjects. RESULTS: No significant difference was detected in genotype or allele distribution between knee OA and control groups (all P > 0.05). The association was also negative even after stratification by sex. Furthermore, no association between the -16C/T SNP genotype and the clinical variables age, sex, BMI (body mass index) and K/L (Kellgren/Lawrence) score was observed in OA patients. CONCLUSION: The present study suggests that the CALM1 core promoter polymorphism -16C/T is not a risk factor for knee OA susceptibility in the Chinese Han population. Further studies are needed to give a global view of this polymorphism in pathogenesis of OA.

| S-EPMC2576056 | biostudies-literature

Association of rs1137101 polymorphism in LEPR and susceptibility to knee osteoarthritis in a Northwest Chinese Han population.

Project description:BackgroundOsteoarthritis (OA) is a complex arthritic condition in which the genetic factor plays a crucial role. A single nucleotide polymorphism (SNP), rs1137101 (Gln223Arg) of leptin receptor (LEPR) gene has been demonstrated to be associated with susceptibility to knee OA. However, this association in Chinese Han population has never been examined. The present study aimed to investigate whether Gln223Arg was related to knee OA susceptibility in a Northwest Chinese population with Han ethnicity.MethodsGln223Arg polymorphisms were genotyped in 587 patients with confirmed knee OA and in 628 age- and sex-matched healthy controls using polymerase chain reaction-restriction fragment length polymorphism analysis. Besides, LEPR genotypes were verified by direct DNA sequencing analysis on PCR products.ResultsThe genotype and allele frequencies in LEPR SNP rs1137101 were significantly different between cases and control groups (chi-square = 6.52, P = 0.038 for genotype and chi-square = 5.06, P = 0.024 for allele frequencies; respectively). Rs1137101 was correlated with knee OA in the dominant genetic model (GG + GA versus AA) (P = 0.016) and a higher G allele frequency existed (P = 0.024) among all patients with knee OA and controls. On stratification analysis, the genotype GG and G allele were associated with susceptibility to knee OA in females, both young (≤65 years) and old groups (>65 years) and patients with mild knee OA.ConclusionsOur finding suggested that the genetic variant of LEPR gene rs1137101 is independently related to knee OA susceptibility in Northwest Chinese population with Han ethnicity and may serve as a potential biomarker to determine risk of knee OA.

| S-EPMC4960800 | biostudies-literature

Correlation between Interleukin-17 gene polymorphism and osteoarthritis susceptibility in Han Chinese population.

Project description:BackgroundInterleukin-17 (IL-17), a pleiotropic cytokine, plays a significant role in the inflammatory diseases. By a pilot study with small population, IL-17 polymorphisms (IL-17A rs2275913 and IL-17F rs763780) showed a more potential risk factor in knee osteoarthritis (OA) in our recruited subjects. In the current study, the association between IL-17A rs2275913 and IL-17F rs763780and the risk of OA in a Chinese population is studied.MethodsThe IL-17A rs2275913 and IL-17F rs763780 polymorphisms were determined in 594 knee OA cases and 576 healthy controls, using polymerase chain reaction-restriction fragment length polymorphism assay. The relationship between genotype distribution and disease risk, as well as OA severity was analyzed by Chi-square test and multivariate logistic regression.ResultsThe experimental results indicated that the polymorphism in IL-17 gene rs2275913 site were related to knee OA risk after the adjustment of BMI, sex, age, smoking and drinking status (AA vs. GG: odds ratio (OR), 1.411; 95% confidence interval (CI), 1.021-1.950; P = 0.040; A allele vs. G allele: OR, 1.192; P = 0.037; 95% CI, 1.012-1.404;). Similarly, subjects who are bearing the rs763780 variant genotypes (TC and CC) and C allele also had a higher susceptibility to knee OA compared with those who are bearing the TT genotype (TC vs. TT, OR: 1.312; P = 0.039; 95% CI: 1.017-1.692; CC vs. TT, OR: 2.812, P = 0.006, 95% CI: 1.338-5.909; C allele Vs. T allele, OR:1.413, P = 0.002, 95% CI:1.141-1.751). In the meantime, one high-risk haplotypes, AC (OR was 7.22, P < 0.01) was found. Both two polymorphisms do not correlated with OA severity based on Kellgren-Lawrence (K&L) scales. Finally, serum IL-17 levels of knee OA patients were greatly higher than those of controls (P = 0.001).ConclusionsWith the limited size sample, our study shows that IL-17 gene polymorphisms possibly related to the high-risk knee OA occurrence.

| S-EPMC6339292 | biostudies-literature

Association between transforming growth factor-beta 1 gene single nucleotide polymorphisms and knee osteoarthritis susceptibility in a Chinese Han population.

Project description:Objective To investigate associations between single polymorphisms (SNPs) rs1800469 and rs1982073 in the transforming growth factor-?1 gene ( TGF-?1) and knee osteoarthritis (OA) susceptibility in a Chinese Han population. Methods TGF-?1 rs1800469 and rs1982073 were genotyped in patients with knee OA and age- and sex-matched OA-free controls from a Chinese Han population. The association was further analyzed according to gender and age. Results A total of 765 patients with knee OA and 780 controls were included. CT and CT?+?CC genotypes of rs1982073, and variant C, were associated with a significantly increased risk of knee OA. Stratification analysis showed that the association between the OA risk and rs1982073 CT heterozygotes compared with TT homozygotes was stronger in females and those aged >65?years. In contrast, CT, TT, and CT?+?TT genotypes of rs1800469 were not significantly associated with the risk of knee OA, even after further stratification analysis for gender and age. Conclusions The TGF-?1 rs1982073 T to C change and the variant C genotype may contribute to knee OA risk in the Chinese Han population.

| S-EPMC5718715 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data