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

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.

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Single nucleotide polymorphism of bone morphogenetic protein 4 gene: A risk factor of non-syndromic cleft lip with or without palate

Indian Journal of Plastic Surgery ◽

10.4103/0970-0358.163053 ◽

2015 ◽

Vol 48 (02) ◽

pp. 159-164 ◽

Cited By ~ 5

Author(s):

Sathyaprasad Savitha ◽

S. M. Sharma ◽

Shetty Veena ◽

R. Rekha

Keyword(s):

Bone Morphogenetic Protein ◽

Cleft Lip ◽

Paediatric Population ◽

Single Nucleotide ◽

Morphogenetic Protein ◽

Increased Risk ◽

Polymerase Chain ◽

Bmp Signalling ◽

Control Study

ABSTRACT Background: The bone morphogenetic protein (BMP) signalling pathway is crucial in a number of developmental processes and is critical in the formation of variety of craniofacial elements including cranial neural crest, facial primordium, tooth, lip and palate. It is an important mediator in regulation of lip and palate fusion, cartilage and bone formation. Aim: To study the role of mutation of BMP4 genes in the aetiology of non-syndromic cleft lip with or without palate (NSCL ± P) and identify it directly from human analyses. Materials and Methods: A case-control study was done to evaluate whether BMP4T538C polymorphism, resulting in an amino acid change of Val=Ala (V152A) in the polypeptide, is associated with NSCL ± P in an Indian paediatric population. Genotypes of 100 patients with NSCL ± P and 100 controls (in whom absence of CL ± P was confirmed in three generations) were detected using a polymerase chain reaction-restriction fragment length polymorphism strategy. Logistic regression was performed to evaluate allele and genotype association with NSCLP. Results: Results showed significant association between homozygous CC genotype with CL ± P (odds ratio [OR]-5.59 and 95% confidence interval [CI] = 2.85-10.99). The 538C allele carriers showed an increased risk of NSCL ± P as compared with 538 T allele (OR - 4.2% CI = 2.75-6.41). Conclusion: This study suggests an association between SNP of BMP4 gene among carriers of the C allele and increased risk for NSCLP in an Indian Population. Further studies on this aspect can scale large heights in preventive strategies for NSCLP that may soon become a reality.

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ABCC4 Variants Modify Susceptibility to Kawasaki Disease in a Southern Chinese Population

Disease Markers ◽

10.1155/2018/8638096 ◽

2018 ◽

Vol 2018 ◽

pp. 1-7 ◽

Cited By ~ 2

Author(s):

Di Che ◽

Lei Pi ◽

Zhenzhen Fang ◽

Yufen Xu ◽

Minmin Cai ◽

...

Keyword(s):

Kawasaki Disease ◽

Chinese Population ◽

Linkage Study ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Ethnic Populations ◽

Southern Chinese ◽

Increased Risk ◽

Variant Genotype ◽

Family Based

A previous family-based linkage study revealed that Kawasaki disease (KD) was associated with variations of the ATP-binding cassette subfamily C member 4 (ABCC4) gene in most European populations. However, significant differences exist among ethnic populations in European and Chinese subjects; therefore, whether ABCC4 variants indicate susceptibility to KD in Chinese children is unclear. The purpose of this research was to evaluate correlations between ABCC4 gene polymorphisms and susceptibility to KD in a Southern Chinese population. We genotyped six polymorphisms (rs7986087, rs868853, rs3765534, rs1751034, rs3742106, and rs9561778) in 775 KD patients and 774 healthy controls. Ninety-five percent confidence intervals (95% CIs) and odds ratios (ORs) were used to assess the strength of each association. We found that the rs7986087 T variant genotype was associated with significantly higher susceptibility to KD (adjusted OR = 1.30, 95% CI = 1.05–1.60 for rs7986087 CT/TT). However, the rs868853 T variant genotype was associated with significantly lower susceptibility to KD (adjusted OR = 0.74, 95% CI = 0.59–0.92 for rs868853 CT/CC). Compared with the patients with 0–4 ABCC4 risk genotypes, the patients with 5-6 ABCC4 risk genotypes had a significantly increased risk of KD (adjusted OR = 1.63, 95% CI = 1.07–2.47), and this risk was more significant in the subgroups of females, subjects aged 12–60 months, and individuals with coronary artery lesions. These results indicate that specific single-nucleotide polymorphisms in the ABCC4 gene may increase susceptibility to KD in a Southern Chinese population.

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Single-Nucleotide Polymorphisms in XPO5 are Associated with Noise-Induced Hearing Loss in a Chinese Population

Biochemistry Research International ◽

10.1155/2020/9589310 ◽

2020 ◽

Vol 2020 ◽

pp. 1-10 ◽

Cited By ~ 1

Author(s):

Ning Wang ◽

Boshen Wang ◽

Jiadi Guo ◽

Suhao Zhang ◽

Lei Han ◽

...

Keyword(s):

Hearing Loss ◽

Chinese Population ◽

Luciferase Reporter ◽

Noise Induced Hearing Loss ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Increased Risk ◽

Polymerase Chain ◽

Control Study ◽

Dual Luciferase Reporter Assay

Objectives.The purpose of this study was to investigate the correlation between single-nucleotide polymorphism (SNP) in 3′UTR of XPO5 gene and the occurrence of noise-induced hearing loss (NIHL), and to further explore the regulatory mechanism of miRNAs in NIHL on XPO5 gene. Methods.We conducted a case-control study involving 1040 cases and 1060 controls. The effects of SNPs on XPO5 expression were studied by genotyping, real-time polymerase chain reaction (qPCR), cell transfection, and the dual-luciferase reporter assay. Results.We genotyped four SNPs (rs2257082, rs11077, rs7755135, and rs1106841) in the XPO5 gene. The rs2257082 AG/GG carriers have special connection to an increased risk of noise-induced hearing loss compared to the AA carriers. The rs11077TG/GG carriers had a significantly increased association with NIHL susceptibility than the TT carriers. There was a higher risk of NIHL in the XPO5 gene rs7755135 CC carriers than in the TT carriers. No statistically significant correlation was obtained with respect to SNPrs1106841. Functional experiments showed that the rs11077 change might inhibit the interaction between miRNAs (miRNA-4763-5p, miRNA-5002-3p, and miRNA-617) and XPO5, with rs11077G allele resulting in overexpression of XPO5. Conclusion. The genetic polymorphism, rs11077, within XPO5 is associated with the risk of noise-induced hearing loss in a Chinese population.

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Genetic variants in CYP4F2 were significantly correlated with susceptibility to ischemic stroke

BMC Medical Genetics ◽

10.1186/s12881-019-0888-6 ◽

2019 ◽

Vol 20 (1) ◽

Author(s):

Yuan Wu ◽

Junjie Zhao ◽

Yonglin Zhao ◽

Tingqin Huang ◽

Xudong Ma ◽

...

Keyword(s):

Ischemic Stroke ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Single Nucleotide ◽

Increased Risk ◽

Chi Squared ◽

Cytochrome P450 Family ◽

Stratified Analysis ◽

Control Study

Abstract Background Ischemic stroke (IS) is a serious cardiovascular disease and is associated with several single nucleotide polymorphisms (SNPs). However, the role of Cytochrome P450 family 4 subfamily F member 2 (CYP4F2) gene in IS remains unknown. Our study aimed to explore whether CYP4F2 polymorphisms influenced IS risk in the Han Chinese population. Methods We selected 477 patients and 495 controls to do a case-control study, and five SNPs in CYP4F2 gene were successfully genotyped. And we evaluated the associations using the Chi-squared test, independent sample t test, and genetic models analyses. Logistic regression analysis was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). Results In this study, rs12459936 and rs3093144 were associated with IS risk in the overall. After stratified analysis by age (> 61 years), rs3093193 and rs3093144 were related to an increased risk of IS, whereas rs12459936 was related to a decreased risk of IS. In addition, we found that three SNPs (rs3093193, rs3093144 and rs12459936) were associated with the susceptibility to IS in males. We also found five SNPs in the CYP4F2 gene had strong linkage. Conclusions Three SNPs (rs3093193, rs3093144 and rs12459936) in the CYP4F2 were associated with IS risk in a Chinese Han population. And, CYP4F2 gene may be involved in the development of IS.

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A miR-182 variant and risk of hepatocellular carcinoma in a southern Chinese population

Human Genomics ◽

10.1186/s40246-020-00289-x ◽

2020 ◽

Vol 14 (1) ◽

Author(s):

Moqin Qiu ◽

Yingchun Liu ◽

Qiuling Lin ◽

Zihan Zhou ◽

Yanji Jiang ◽

...

Keyword(s):

Chinese Population ◽

Regulation Of Gene Expression ◽

Nucleotide Polymorphisms ◽

Older Individuals ◽

Single Nucleotide ◽

Southern Chinese ◽

Increased Risk ◽

Stratified Analysis ◽

Larger Sample ◽

Control Study

Abstract MicroRNAs (miRNAs) play important roles in the regulation of gene expression at the posttranscriptional level and are involved in human carcinogenesis. The aim of the current study was to investigate the associations between miR-182 single nucleotide polymorphisms and HCC risk in a southern Chinese population. In this case-control study of 863 HCC patients and 908 cancer-free controls, we performed genotyping of miR-182 rs4541843 and assessed its association with HCC risk. We found that individuals carrying the AG/AA genotypes of miR-182 rs4541843 were significantly associated with an increased risk of HCC compared with those carrying the GG genotype (adjusted odds ratio (OR) = 1.71, 95% confidence interval (CI) = 1.07–2.76, P = 0.026). In the stratified analysis, this increased risk was more pronounced in the subgroups of older individuals (adjusted OR = 1.98, 95% CI = 1.04–3.76, P = 0.037), males (adjusted OR = 1.81, 95% CI = 1.09–2.99, P = 0.021), and never drinkers (adjusted OR = 1.84, 95% CI = 1.03–3.30, P = 0.041). Our results suggested that miR-182 polymorphism rs4541843 may contribute to the susceptibility to HCC. Our findings require validation in further studies with larger sample sizes.

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Phosphodiesterase 4D gene polymorphism is associated with ischaemic and haemorrhagic stroke

Clinical Science ◽

10.1042/cs20080162 ◽

2009 ◽

Vol 116 (4) ◽

pp. 335-340 ◽

Cited By ~ 25

Author(s):

Hao Xue ◽

Hu Wang ◽

Xiaodong Song ◽

Weiju Li ◽

Kai Sun ◽

...

Keyword(s):

Chinese Population ◽

Haemorrhagic Stroke ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Gene Variation ◽

Icelandic Population ◽

Increased Risk ◽

Pcr Rflp ◽

Phosphodiesterase 4D ◽

Control Study

It has been reported that the variants of the PDE4D (phosphodiesterase 4D) gene are associated with stroke, especially with the combination of cardio-embolic and carotid stroke in the Icelandic population, but it is still very controversial as to whether PDE4D is a susceptible gene for stroke in other populations. In the present study, we tested whether the PDE4D gene variation also confers stroke risk in a Chinese population. Our hypothesis was tested in a case-control study of a Chinese population comprising 639 stroke patients (including 253 with cerebral thrombosis, 171 with lacunar infarction and 215 with intracerebral haemorrhage) and 887 healthy controls. Three SNPs (single nucleotide polymorphisms) (rs966221, rs456009 and rs2910829) in PDE4D were chosen based on the significant association with stroke reported previously in a Western population, and these were genotyped using PCR/RFLP (restriction-fragment-length polymorphism) and confirmed by sequencing. We found that only SNP83 (rs966221) was associated with stroke. Allele C of rs966221 is a risk allele, conferring an increased risk for atherothrombotic strokes [OR (odds ratio), 1.51; 95% CI (confidence interval), 1.09–2.10] independent of conventional risk factors. Haplotype analysis confirmed that haplotype G-C-C was associated with increased risk for atherothrombotic stroke (OR, 1.80; 95% CI, 1.300–2.491). Our findings support that SNP83 of PDE4D is a genetic risk factor for atherothrombotic strokes in a Chinese population.

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The Role of Keratin-8 and Keratin-18 Polymorphisms and Protein Levels in the Occurrence and Progression of Vocal Leukoplakia

ORL ◽

10.1159/000511447 ◽

2021 ◽

pp. 1-10

Author(s):

Yue Yang ◽

Jian Zhou ◽

Peijie He ◽

Haitao Wu

Keyword(s):

Laryngeal Squamous Cell Carcinoma ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Tissue Protein ◽

Protein Levels ◽

Increased Risk ◽

Keratin 8 ◽

Keratin 18 ◽

Control Study

Objective: This study aimed to evaluate the association between the single-nucleotide polymorphism (SNP) and tissue protein level of keratin-8/18 and the occurrence and progression of vocal leukoplakia. Methods: The case-control study enrolled 158 patients with vocal leukoplakia, 326 patients with laryngeal squamous cell carcinoma (LSCC), and 268 healthy controls, which were tested for genotype analysis with keratin-8 and keratin-18 gene polymorphisms using pyrosequencing. The tissue protein expression levels of keratin-8 and keratin-18 were evaluated using immunohistochemistry. Results: The keratin-8 SNP RS1907671 showed an obvious increased risk for vocal leukoplakia (OR 1.56, p = 0.002), while the other SNPs (RS2035875, RS2035878, RS4300473) were tested as protective factors for vocal leukoplakia and LSCC (OR <1, p < 0.05). In keratin-18 SNP test, both RS2070876 and RS2638526 polymorphisms demonstrated decreased risks for vocal leukoplakia and LSCC (OR <1, p < 0.05). The protein levels of keratin-8 and keratin-18 in vocal leukoplakia group were significantly higher than those of the LSCC group (p < 0.05). Conclusions: Keratin-8 and keratin-18 polymorphisms and protein levels are associated with the occurrence and progression of vocal leukoplakia.

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Genetic Variants in KIR/HLA-C Genes Are Associated With the Susceptibility to HCV Infection in a High-Risk Chinese Population

Frontiers in Immunology ◽

10.3389/fimmu.2021.632353 ◽

2021 ◽

Vol 12 ◽

Author(s):

Chao Shen ◽

Zhijun Ge ◽

Chen Dong ◽

Chunhui Wang ◽

Jianguo Shao ◽

...

Keyword(s):

High Risk ◽

Chinese Population ◽

Drug Users ◽

Hcv Infection ◽

Taqman Assay ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Risk Alleles ◽

Increased Risk ◽

Control Study

BackgroundKIR/HLA-C signaling pathway influences the innate immune response which is the first defense to hepatitis C virus (HCV) infection. The aim of this study was to determine the association between the genetic polymorphisms of KIR/HLA-C genes and the outcomes of HCV infection in a high-risk Chinese population.MethodsIn this case-control study, four single nucleotide polymorphisms (SNPs) of KIR/HLA-C genes (KIR2DS4/KIR2DS1/KIR2DL1 rs35440472, HLA-C rs2308557, HLA-C rs1130838, and HLA-C rs2524094) were genotyped by TaqMan assay among drug users and hemodialysis (HD) patients including 1,378 uninfected control cases, 307 subjects with spontaneous viral clearance, and 217 patients with persistent HCV infection. Bioinformatics analysis was used to functionally annotate the SNPs.ResultsAfter logistic regression analysis, the rs35440472-A and rs1130838-A alleles were found to be associated with a significantly elevated risk of HCV infection (OR = 1.562, 95% CI: 1.229–1.987, P < 0.001; OR = 2.134, 95% CI: 1.180–3.858, P = 0.012, respectively), which remained significant after Bonferroni correction (0.05/4). The combined effect of their risk alleles and risk genotypes (rs35440472-AA and rs1130838-AA) were linked to the increased risk of HCV infection in a locus-dosage manner (all Ptrend < 0.001). Based on the SNPinfo web server, rs35440472 was predicted to be a transcription factor binding site (TFBS) while rs1130838 was predicted to have a splicing (ESE or ESS) function.ConclusionKIR2DS4/KIR2DS1/KIR2DL1 rs35440472-A and HLA-C rs1130838-A variants are associated with increased susceptibility to HCV infection in a high-risk Chinese population.

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High systemic bone mineral density increases the risk of incident knee OA and joint space narrowing, but not radiographic progression of existing knee OA: the MOST study

Annals of the Rheumatic Diseases ◽

10.1136/ard.2008.099531 ◽

2009 ◽

Vol 69 (01) ◽

pp. 163-168 ◽

Cited By ~ 68

Author(s):

M C Nevitt ◽

Y Zhang ◽

M K Javaid ◽

T Neogi ◽

J R Curtis ◽

...

Keyword(s):

Bone Mineral Density ◽

Bone Mineral ◽

Joint Space Narrowing ◽

Weight Bearing ◽

Joint Space ◽

Whole Body ◽

Mineral Density ◽

Knee Oa ◽

Increased Risk

Objectives:Previous studies suggest that high systemic bone mineral density (BMD) is associated with incident knee osteoarthritis (OA) defined by osteophytes but not with joint space narrowing (JSN), and are inconsistent regarding BMD and progression of existing OA. The association of BMD with incident and progressive tibiofemoral OA was tested in a large prospective study of men and women aged 50–79 years with or at risk for knee OA.Methods:Baseline and 30-month weight-bearing posteroanterior and lateral knee radiographs were scored for Kellgren-Lawrence (K-L) grade, JSN and osteophytes. Incident OA was defined as the development of K-L grade ⩾2 at follow-up. All knees were classified for increases in grade of JSN and osteophytes from baseline. The association of gender-specific quartiles of baseline BMD with risk of incident and progressive OA was analysed using logistic regression, adjusting for covariates.Results:The mean (SD) age of 1754 subjects was 63.2 (7.8) years and body mass index was 29.9 (5.4) kg/m2. In knees without baseline OA, higher femoral neck and whole body BMD were associated with an increased risk of incident OA and increases in grade of JSN and osteophytes (p<0.01 for trends); adjusted odds were 2.3–2.9-fold greater in the highest compared with the lowest BMD quartiles. In knees with existing OA, progression was not significantly related to BMD.Conclusions:In knees without OA, higher systemic BMD was associated with a greater risk of the onset of JSN and K-L grade ⩾2. The role of systemic BMD in early knee OA pathogenesis warrants further investigation.

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OPN gene locus is associated with the risk of knee osteoarthritis: a case–control study

Bioscience Reports ◽

10.1042/bsr20182023 ◽

2019 ◽

Vol 39 (2) ◽

Cited By ~ 2

Author(s):

Houlai Shang ◽

Yuedong Hao ◽

Wenhao Hu ◽

Xiaohui Hu ◽

Qing Jin

Keyword(s):

Knee Osteoarthritis ◽

Chinese Population ◽

Gene Locus ◽

Case Control Study ◽

Fragment Length Polymorphism ◽

Case Control ◽

Chinese Han ◽

Knee Oa ◽

Pcr Rflp ◽

Control Study

AbstractBackground/aims: Studies have demonstrated that osteopontin (OPN) was associated with the severity and development of knee osteoarthritis (OA). Methods: The purpose of this case–control study was to investigate the association between OPN gene rs11730582 polymorphism and knee OA risk in a Chinese population. Genotyping was analyzed using standard PCR and restriction fragment length polymorphism (PCR-RFLP). Results: The present study found that C allele or CC genotype of OPN gene rs11730582 polymorphism was related to decreased risk for knee OA. Furthermore, positive associations were obtained amongst the females, and body mass index (BMI) < 25 kg/m2 groups. Conclusions: To sum up, the present study reveals that OPN gene rs11730582 polymorphism decreases the risk of knee OA in Chinese Han population.

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