Chemokine Receptor 2 (CXCR2) Gene Polymorphisms and Their Association with the Risk of Developing Peri-Implantitis in Chinese Han Population.
Ontology highlight
ABSTRACT: Purpose
This study aimed to investigate the role of chemokine receptor 2 (CXCR2) gene polymorphisms in peri-implantitis susceptibility in a Chinese Han population.Patients and methods
A total of 260 individuals were included in this study, including 127 peri-implantitis patients and 133 healthy implants. CXCR2 gene rs2230054 and rs1126580 polymorphisms in different groups were analyzed by the Chi-square test. The odds ratios (ORs) and 95% confidence intervals (95% CIs) were employed to evaluate the association between CXCR2 polymorphism and peri-implantitis susceptibility.Results
The CT genotype of rs2230054 and the AG genotype and G allele of rs1126580 significantly increased in peri-implantitis patients compared with healthy implants (P < 0.05). The CT genotype of rs2230054 (OR = 1.825, 95% CI = 1.028-3.239) and the AG genotype of rs1126580 (OR = 2.223, 95% CI 1.272-3.885) carriers had a high risk to infect with peri-implantitis. Additionally, these CXCR2 gene polymorphisms have been revealed to be associated with the periodontal status of peri-implantitis patients.Conclusion
The CXCR2 gene rs2230054 and rs1126580 polymorphisms were associated with the peri-implantitis susceptibility in the Chinese Han population. The CT genotype of rs2230054 and the AG genotype and G allele of rs1126580 serve as risk factors for the occurrence of peri-implantitis.
SUBMITTER: Qi Y
PROVIDER: S-EPMC8079253 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:BACKGROUND The aim of this study was to investigate the association between T950C (rs2073617) and G1181C (rs2073618) polymorphisms of the osteoprotegerin gene (OPG) and the susceptibility of peri-implantitis in the Chinese Han population. MATERIAL AND METHODS 110 patients with peri-implantitis and 116 healthy persons from the Chinese Han population were included in this study using a case-control design; rs2073617 and rs2073618 in OPG were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The linkage disequilibrium (LD) and haplotype analysis were performed with Haploview software. Hardy-Weinberg equilibrium (HWE) was assessed in the control group based on the genotype distributions of OPG polymorphisms. The genotype, allele, and haplotype distribution differences between the case and control groups were analyzed by chi-square test, and the relative risk of PD was expressed by odds ratio (OR) and 95% confidence interval (CI). RESULTS The study results showed that people carrying the CC genotype of rs2073618 were more likely to have peri-implantitis than GG genotype carriers (OR=2.18, 95% CI=1.03-4.62, p=0.04). In addition, patients with the C allele had 1.47 times the risk of suffering from peri-implantitis (OR=1.47, 95% CI=1.01-2.13, p=0.04), but not rs2073617 polymorphism. The G-C haplotype frequency of rs2073618-rs2073617 in OPG was significantly correlated to the increased susceptibility of peri-implantitis (OR=2.27, 95% CI=1.20-4.30). CONCLUSIONS OPG rs2073618 polymorphism may be related to the risk of peri-implantitis, but not rs2073617. Moreover, haplotype is also a non-ignorable risk factor.
| S-EPMC5106242 | biostudies-literature
Project description:Peri-implant disease is an inflammatory disease and is related to genetic heterogeneity. Considering the genetic association of epidermal growth factor (EGF) gene polymorphisms with the susceptibility of periodontitis, its genetic association with peri-implantitis risk in a Chinese Han population was explored. Three hundred individuals who underwent dental implants were recruited, and divided into healthy implant group and peri-implantitis group. The genotype and allele distribution of EGF gene rs2237051 and rs4444903 polymorphisms were analyzed via direct sequencing and the frequencies were compared between the two groups using chi-square test. No significant difference was detected for the clinical information between healthy implant group and peri-implantitis group, including lifestyle habits platform type and position, peri-implant phenotype, brushing time, dental floss, and mouth washing frequencies. Individuals with peri-implantitis had poor periodontal status. The GG genotype and G allele of rs2237051 showed significant increasing trend in peri-implantitis group compared with the healthy implant group. Compared with the AA genotype carriers, rs2237051 GG genotype carriers showed lower risk to suffer from peri-implantitis (OR = 0.236, 95%CI = 0.089-0.624), and possessed low values of gingival index, plaque index and calculus index, peri-implant pocket depth (PPD) and clinical attachment level (CAL). But there was no significant difference for the rs4444903 genotype distributions between the case and control groups. In summary, EGF rs2237051 polymorphism showed close association with the genetic background of peri-implantitis. Rs2237051 GG genotype and G allele might be protective factors for the onset of peri-implantitis.
| S-EPMC8806989 | biostudies-literature
Project description:To investigate the association of chemokine gene polymorphisms and Behcet's disease (BD) and Vogt Koyanagi Harada (VKH) disease in a Chinese Han population. A case-control study was performed. Three hundred and seventy-one BD patients, 371 VKH disease patients, and 605 healthy controls were recruited to determine genetic variants of 26 SNPs in 12 chemokine genes with iPLEX Gold genotyping assay and Sequenom MassARRAY or TaqMan SNP assays. In this study, Puncorr values showed a weak association of five SNPs of five genes in BD and three SNPs of three genes in VKH disease. However, after Bonferroni correction, the 26 investigated SNPs showed no significant differences in genetic variants, including genotype and allele frequencies, between BD or VKH disease patients and healthy individuals. Haplotype analysis for the chemokine genes showed a significant association with the TC haplotype of CXCL12 in VKH. Stratified gender analysis and genotype-phenotype analysis were conducted to analyze the association of the 26 SNPs of 12 chemokine genes with BD and VKH disease. However, no significant association was observed after Bonferroni correction. This study showed no association of 26 SNPs in 12 chemokine genes with both BD and VKH disease in a Chinese Han population.
| S-EPMC5446887 | biostudies-literature
Project description:Neutrophils are crucial in the process of gout flare and remission. The signal transduction pathway of chemokine plays a vital role in the chemotaxis and activation of neutrophils. CXCR2 gene knocked out can avoid the acute neutrophilic inflammation stimulated by monosodium urate (MSU) crystals in mice. To investigate the relationship among CXCR1 rs2234671, CXCR2 rs1126579, and rs2230054 polymorphisms with gout arthritis flare in the Chinese Han male population, a case-control study was carried out in 412 gout patients and 508 gout-free individuals. TaqMan probes fluorescence real-time polymerase chain reaction (PCR) was used to genotype CXCR1 rs2234671, CXCR2 rs1126579, and rs2230054 SNPs. There was a clear link between CXCR2 rs2230054 T included genotypic and T allelic frequencies and gout cases (c2 = 9.286, p = 0.002 by genotype, c2 = 8.639, p = 0.003 by allele), while no significant differences were observed between the gouty arthritis group and the control group in CXCR1 rs2234671 and CXCR2 rs1126579 genotypic and allelic frequencies. Multivariate logistic regression analysis showed that the T genotype included in rs2230054 can decrease the risk of gouty arthritis (adjusted OR = 0.47; 95% CI: 0.31-0.74) compared with the CC genotype. Our study might suggest that rs2230054 in CXCR2 is associated with susceptibility to gout in Chinese males.
| S-EPMC7226559 | biostudies-literature
Project description:BackgroundThe expression of μ-opioid receptor has important role in cognitive dysfunction in Schizophrenia (SZ). The results of studies about the association of polymorphisms of μ-opioid receptor gene (OPRM1) with SZ were inconsistent.MethodsWe conducted a case-control study to investigate the genetic association between OPRM1 polymorphisms and SZ among the Han chinese population. 264 SZ patients and 264 age-matched control subjects were recruited. Four SNPs of OPRM1 were successfully genotyped by using PCR-RFLP.ResultsOf four polymorphisms, rs1799971 and rs2075572 were shown to associate with SZ. Compared with the A allele of rs1799971 and C allele of rs2075572, the G allele of rs1799971 and rs2075572 was associated with an almost 0.46-fold risk (OR=0.46, 95% CI: 0.357-0.59, P<0.01) and 0.7-fold risk (OR=0.707, 95% CI: 0.534-0.937, P=0.015) of the occurrence of SZ,. When subjects were divided by gender, rs1799971 remained significant difference only in males (OR=0.309, 95% CI: 0.218-0.439 for G allele, P<0.01), and rs2075572 only in females (OR=0.399, 95% CI: 0.246-0.648 for G allele, P<0.01). In secondary analysis with subsets of patients, the G allele of rs1799971 (compared to the A allele) was associated with a decreased risk of all patients and male patients with apathy symptoms (OR=0.086, 95% CI: 0.048-0.151, P=0.01; OR=0.083, 95% CI: 0.045-0.153, P<0.01), and the G allele of rs2075572 (compared to the C allele) was associated with a decreased risk of all patients and female patients with positive family history (OR=0.468, 95% CI: 0.309-0.71, P<0.01; OR=0.34, 95% CI: 0.195-0.593, P<0.01). In addition, haplotype analysis revealed that two SNP haplotypes (A-C-C-G and G-C-C-A) were associated with decreased risks of SZ (P<0.01). The other two (G-C-C-G and G-G-C-G) with increased risks of SZ (P<0.01).ConclusionsThe present study demonstrated for the first time that the OPRM1 polymorphism may be a risk factor for schizophrenia in the Han Chinese. Further studies are needed to give a global view of this polymorphism in pathogenesis of schizophrenia in a large-scale sample, family-based association design or well-defined subgroups of schizophrenia.
| S-EPMC3641981 | biostudies-literature
Project description:BackgroundNuclear receptor coactivator-3 (NCOA3) is involved in various physiological processes. Emerging evidence from previous studies using animal models suggests that the NCOA3 gene (NCOA3) plays a critical role in lipid metabolism as well as adipogenesis and obesity. The present study aims to investigate the association between NCOA3 SNPs and dyslipidemia in the Chinese Han population.MethodsFive hundred and twenty-nine (529) Chinese Han subjects were recruited. Four tag SNPs (rs2425955G > T, rs6066394T > C, rs10485463C > G, and rs6094753G > A) in NCOA3, selected from the HapMap website, were genotyped using MALDI-TOF mass spectrometry. Data analysis was performed using SPSS 16.0, SNPStats and haploview 4.2.ResultsFour SNPs (rs2425955, rs6066394, rs10485463, and rs6094753) were associated with triglyceride levels. Except for SNP rs10485463, genotype distributions and allele frequencies of the other three NCOA3 SNPs (rs2425955, rs6066394, and rs6094753) were significantly different between hypertriglyceridemia subjects and normal group. Significant differences were also observed in allele frequencies and genotype distributions of SNP rs10485463 between low-HDL cholesterolemia subjects and normal group. Carriers of rs2425955 T allele had a lower risk of hypertriglyceridemia compared to GG genotype. Similar results were observed from rs6094753. Subjects with rs6066394 CT genotype had a lower risk of hypertriglyceridemia than those with the TT genotype; however, CC and TT genotypes showed no significant difference in the risk of hypertriglyceridemia. Similar results were found in the association between rs6066394 and hypercholesterolemia. The variant alleles of rs2425955, rs6066394 and rs6094753 were associated with a lower risk of hypertriglyceridemia compared with the wild-type alleles. The G allele of rs10485463 was associated with an increased risk of low-HDL cholesterolemia. In the log-additive model the association between rs2425955 and hypertriglyceridemia remained significant after Bonferroni correction, and genotypes with variant alleles were associated with a lower risk of hypertriglyceridemia.ConclusionsIn summary, this study demonstrated that variation in NCOA3 might influence the risk of dyslipidemia and serum lipid levels in Chinese Han population.
| S-EPMC4599759 | biostudies-literature
Project description:Numerous developmental genes have been linked to schizophrenia (SZ) by case-control and genome-wide association studies, suggesting that neurodevelopmental disturbances are major pathogenic mechanisms. However, no neurodevelopmental deficit has been definitively linked to SZ occurrence, likely due to disease heterogeneity and the differential effects of various gene variants across ethnicities. Hence, it is critical to examine linkages in specific ethnic populations, such as Han Chinese. The newly identified RhoGAP ARHGAP18 is likely involved in neurodevelopment through regulation of RhoA/C. Here we describe four single nucleotide polymorphisms (SNPs) in ARHGAP18 associated with SZ across a cohort of >2000 cases and controls from the Han population. Two SNPs, rs7758025 and rs9483050, displayed significant differences between case and control groups both in genotype (P = 0.0002 and P = 7.54×10-6) and allelic frequencies (P = 4.36×10-5 and P = 5.98×10-7), respectively. The AG haplotype in rs7758025-rs9385502 was strongly associated with the occurrence of SZ (P = 0.0012, OR = 0.67, 95% CI = 0.48-0.93), an association that still held following a 1000-times random permutation test (P = 0.022). In an independently collected validation cohort, rs9483050 was the SNP most strongly associated with SZ. In addition, the allelic frequencies of rs12197901 remained associated with SZ in the combined cohort (P = 0.021), although not in the validation cohort alone (P = 0.251). Collectively, our data suggest the ARHGAP18 may confer vulnerability to SZ in the Chinese Han population, providing additional evidence for the involvement of neurodevelopmental dysfunction in the pathogenesis of schizophrenia.
| S-EPMC5383423 | biostudies-literature
Project description:BackgroundScientific evidence indicates that biological complications in dental implants tend to be concentrated in a subset of individuals, which seems to imply that the host response may play a determining role in implant success. Over the last few decades, several polymorphisms have been studied. Polymorphisms in the interleukin (IL) 1 gene cluster have been associated with periodontitis. There are some similar features in the sequence of immunopathological events in peri-implant and periodontal infections. We aimed to investigate if individuals carrying the genetic single nucleotide polymorphism (SNP) in the IL-1A (rs1800587) and IL-1B (rs1143634) genes are more susceptible to develop peri-implantitis.MethodsA cross-sectional analytic pilot study was conducted in 20 Caucasian Portuguese subjects divided into two groups: 10 subjects with peri-implantitis and 10 subjects with peri-implant health (control group). Samples containing cells from the buccal mucosa were stored at -20 °C and later submitted to the DNA extraction process. Genetic analysis was performed using the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis. Data were analyzed by using descriptive and inferential statistical methodologies.ResultsFor the IL-1A (-889) gene polymorphism, it was observed that the mutated allele was present in a higher percentage in the peri-implantitis group compared to the control group (30% vs 15% respectively, Fisher's exact test, p = 0.45). For the IL-1B (+3954) gene polymorphism, it was also observed that the altered allele was present in a higher percentage in the disease group compared to the control group (35% vs 10% respectively, Fisher's exact test, p = 0.13). The positive genotype (at least one allele with nucleotide sequence changed in both genes) was detected in six patients, five belonging to the disease group and one to the health group.ConclusionsRegarding IL-1 gene polymorphisms, there was no statistically significant difference between the health and disease group, however a trend should be highlighted, showing a potential link between the IL-1 genotype and peri-implantitis. More studies are needed to clarify the role of genetic polymorphisms in the development of peri-implantitis.
| S-EPMC9288821 | biostudies-literature
Project description:Objective: The aim of the present study was to explore the genetic association of single nucleotide polymorphisms (SNPs) in interleukin-16 (IL-16) gene with type 2 diabetes mellitus (T2DM) susceptibility in a Chinese Han population.Methods: In total, 133 T2DM patients and 127 healthy controls matched by age and gender were recruited in the case-control study. IL-16 gene rs4778889 and rs11556218 polymorphisms were genotyped in the two groups via polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Differences in genotype and allele distributions between groups were compared by the χ2 test. All the comparisons were adjusted for age, gender, and body mass index (BMI) by logistic regression. The odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the association strength between IL-16 gene polymorphism and T2DM risk.Results: The TG genotype and G allele frequencies of rs11556218 increased remarkably in the case group than that in controls (45.86 vs 33.86%; 29.70 vs 20.87%), and the differences reached a significant level (P<0.05). After adjusting for age, gender, and BMI, the differences still reached a significant level (P<0.05). Rs11556218 TG genotype carriers had a 1.769-fold increased risk of developing T2DM (OR = 1.769, 95% CI = 1.045-2.994), and G allele was also associated with an increased risk of T2DM (OR = 1.639, 95% CI = 1.087-2.471). IL-16 rs4778889 polymorphism showed no significant association with T2DM risk.Conclusion:IL-16 gene rs11556218 polymorphism was significantly associated with T2DM susceptibility in the Chinese Han population, while rs4778889 was not.
| S-EPMC6695499 | biostudies-literature
Project description:BACKGROUND: Autism, a heterogeneous disease, is described as a genetic psychiatry disorder. Recently, abnormalities at the synapse are supposed to be important for the etiology of autism.SHANK3 (SH3 and multiple ankyrin repeat domains protein) gene encodes a master synaptic scaffolding protein at postsynaptic density (PSD) of excitatory synapse. Rare mutations and copy number variation (CNV) evidence suggested SHANK3 as a strong candidate gene for the pathogenesis of autism. METHODS: We performed an association study between SHANK3 gene polymorphisms and autism in Chinese Han population. We analyzed the association between five single nucleotide polymorphisms (SNPs) of the SHANK3 gene and autism in 305 Chinese Han trios, using the family based association test (FBAT). Linkage disequilibrium (LD) analysis showed the presence of LD between pairwise markers across the locus. We also performed mutation screening for the rare de novo mutations reported previously. RESULTS: No significant evidence between any SNPs of SHANK3 and autism was observed. We did not detect any mutations described previously in our cohort. CONCLUSION: We suggest that SHANK3 might not represent a major susceptibility gene for autism in Chinese Han population.
| S-EPMC2721832 | biostudies-literature