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The role of WWOX polymorphisms on COPD susceptibility and pulmonary function traits in Chinese: a case-control study and family-based analysis.

ABSTRACT: Single nucleotide polymorphisms (SNPs) in the WW domain containing oxidoreductase (WWOX) gene were recently identified to be quantitative trait loci for lung function and thus likely to be susceptible biomarkers for COPD. However, the associations between WWOX SNPs and COPD risk are still unclear. Here, by conducting a two-center case-control study including 1511 COPD cases and 1677 controls and a family-based analysis comprising 95 nuclear pedigrees, we tested the associations between five SNPs that are rs10220974C >T, rs3764340C >G, rs12918952G >A, rs383362G >T, rs12828G >A of WWOX and COPD risk as well as the hereditary inclination of these loci among COPD families. We found that the SNP rs383362G >T was significantly associated with an increased risk of COPD in a T allele-number dependent-manner (OR = 1.30, 95%CI = 1.11-1.52). The T allele was more prone to over transmit to sick children and sibs than the G allele (Z = 2.900, P = 0.004). Moreover, the forced expiratory volume in one second/forced vital capacity (FEV1/FVC), FEV1/predicted-FEV1 and annual FEV1 also significantly decreased in the rs383362T carriers compared to the rs383362GG carriers. For other SNPs, no significant association was observed for COPD and pulmonary function. Taken together, our data demonstrated that the SNP rs383362G >T of WWOX plays a role in COPD inheritance.

SUBMITTER: Xie C

PROVIDER: S-EPMC4763216 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature

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Association between PTCH1 gene polymorphisms and chronic obstructive pulmonary disease susceptibility in a Chinese Han population: a case-control study.

Project description:BackgroundChronic obstructive pulmonary disease (COPD) is a leading cause of morbidity and mortality worldwide. Genome-wide association studies in non-Asian population revealed a link between COPD and mutations in the PTCH1 gene encoding Patched1, a receptor in the Hedgehog signaling pathway important for lung morphogenesis and pulmonary function. The aim of this study was to investigate the association between PTCH1 polymorphisms and the COPD risk in the Chinese Han population.MethodsWe performed a case-control study including 296 patients with COPD and 300 healthy individuals. Single-nucleotide polymorphisms in the PTCH1 gene were identified and genotyped based on the linkage disequilibrium analysis in all participants. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were estimated using logistic regression analysis after adjustment for age, gender, and smoking.ResultsIn total, 28 single-nucleotide polymorphisms were identified in patients with COPD. Among them, "A" allele of rs28491365 (OR: 1.388, 95% CI: 1.055-1.827, P = 0.018), and "G" alleles of rs10512248 (OR: 1.299, 95% CI: 1.021-1.653, P = 0.033) and rs28705285 (OR: 1.359, 95% CI: 1.024-1.803, P = 0.033; respectively) were significantly associated with an increased COPD risk. Genetic model analysis revealed that the "T/T" genotype of rs34695652 was associated with a decreased COPD risk under the recessive model (OR: 0.490, 95% CI: 0.270-0.880, P = 0.010), whereas rs28504650/rs10512248 haplotype CG was significantly associated with an increased COPD risk after adjustment for age, gender, and smoking status (OR: 6.364, 95% CI: 1.220-33.292, P = 0.028).ConclusionsThe study provides a new insight into the role of PTCH1 polymorphisms in the susceptibility to COPD in the Chinese Han population.

| S-EPMC7478574 | biostudies-literature

Polymorphisms in TIM-3 and breast cancer susceptibility in Chinese women: A case-control study.

Project description:Previous studies have found associations between polymorphisms in T cell immunoglobulin and mucin domain 3 (TIM-3) and increased risks of various cancers. However, the association between TIM-3 polymorphisms and breast cancer (BC) remains uncertain. In this study, a total of 560 BC patients and 583 age, sex, and ethnicity-matched healthy controls from Northwest China were included. The polymorphisms were genotyped using Sequenom MassARRAY. The expression level of TIM-3 protein was detected by immunohistochemistry. We observed rs10053538 had a significantly increased risk of BC, comparing with the wild-type genotype even after Bonferroni correction. In addition, the rs4704853 G>A variants were more frequent among BC patients than the controls (GA + AA vs. GG: OR = 1.32, 95% CI = 1.03-1.69, P = 0.026); However, the significance was lost after Bonferroni correction (P = 0.078). Furthermore, rs10053538 was associated with lymph node metastasis. Age stratification revealed that among patients aged <49 years, those with the rs4704853 GA/AA genotype had a higher risk of BC; But there was no difference when Bonferroni correction was conducted. Immunohistochemical analysis showed that the expression of TIM-3 protein in the breast cancer tissues was higher in patients carrying the rs10053538 GT+TT genotype than those with GG genotype (P = 0.012). However, we failed to find any difference between BC patients and controls in any rs1036199 genetic model. These findings suggested that rs10053538 in TIM-3 might increase susceptibility to BC and promote the progression of BC in Chinese women.

| S-EPMC5190054 | biostudies-literature

H19 gene polymorphisms and neuroblastoma susceptibility in Chinese children: a six-center case-control study.

Project description:Neuroblastoma is the most common seen solid tumor in children less than one year old. Given that polymorphisms in the lncRNA H19 gene are observed in several types of human malignancies, there likely to be similar events that contribute to the pathogenesis of neuroblastoma. We hypothesize that single nucleotide polymorphisms (SNPs) in the H19 gene might predispose to neuroblastoma. Here, we genotyped three SNPs (rs2839698 G>A, rs3024270 C>G, rs217727 G>A) from H19 gene in a Chinese population (700 subjects with neuroblastoma and 1516 control subjects) enrolled from six hospitals and examined the effect of individual and combined SNPs on the risk of neuroblastoma. Odds ratios (ORs) and 95% confidence intervals (CIs) calculated from logistic regression were adopted to assess such association, adjusted for age and gender. Among them, 700 controls and 1514 cases were successfully genotyped. None of these three SNPs were found to be relevant to the risk of neuroblastoma, either in overall analysis or stratification analysis. Findings from this study excluded the participation of lncRNA H19 gene SNPs in the risk of neuroblastoma. More independent case-control studies are encouraged to better elucidate this relationship.

| S-EPMC6856749 | biostudies-literature

Correlation of PON1 polymorphisms with ankylosing spondylitis susceptibility: A case-control study in Chinese Han population.

Project description:Paraoxonase 1 (PON1) modulates the oxidative stress and inflammatory response, thus, it might relate to the risk of ankylosing spondylitis (AS). The aim of present study was to discover the correlation of PON1 polymorphisms (rs662 and rs854560) with PON1 activity and AS risk.Around 128 AS patients and 146 healthy controls were recruited in this case-control study. PON1 polymorphisms were genotyped by direct sequencing. Serum PON1 activity was detected and compared by nonparametric test in different genotypes of PON1 polymorphisms. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to present the relative risk for AS.GG genotype and G allele of rs662 polymorphism were closely correlated with enhanced AS risk (P = .034, OR = 2.318, 95%CI = 1.051-5.113; P = .032, OR = 1.485, 95%CI = 1.033-2.135). PON1 activity was obviously higher in controls than that in AS patients. Significant difference of PON1 activity has been discovered in the different rs662 genotypes (P < .01). rs662 GG genotype carriers had the lowest PON1 activity, followed by AG carriers and the AA carriers. Besides, no significant relationship existed between rs854560 genotypes and AS risk.PON1 rs662 polymorphism is significantly correlated with increased AS risk via inhibiting PON1 activity.

| S-EPMC5662342 | biostudies-literature

Association of IL13 polymorphisms with susceptibility to myocardial infarction: A case-control study in Chinese population.

Project description:Inflammatory cytokines play a major role in the pathogenesis of myocardial infarction (MI). Although information on the importance of interleukin 13 (IL13) in human MI is limited, it has been well documented in the mouse model. Genetic variation in the IL13 gene has been associated with the structure and expression of the IL13. In the present study, we hypothesized that IL13 common genetic variants would be associated with a predisposition to the development of MI. The present study enrolled 305 MI patients and 310 matched healthy controls. Common genetic polymorphisms in the IL13 gene (rs20541, rs1881457, and rs1800925) were genotyped using the TaqMan SNP genotyping method. Plasma levels of IL13 were measured using an enzyme-linked immunosorbent assay (ELISA). In MI patients, minor alleles of the IL13 rs1881457 and rs1800925 polymorphisms were less common than in healthy controls [rs1881457: AC (P = 0.004, OR = 0.61), C (P = 0.001, OR = 0.66); rs1800925: CT (P = 0.006, OR = 0.59)]. Further haplotype analysis of three studied SNPs revealed a significant association with predisposition to MI. Interestingly, IL13 rs1881457 and rs1800925 were linked to plasma levels of IL13: the reference genotype had higher levels, heterozygotes were intermediate, and the alternate genotype had the lowest levels. In the Chinese population, IL13 (rs1881457 and rs180092) variants are associated with different plasma IL13 levels and offer protection against MI development. However, additional research is required to validate our findings in different populations, including descent samples.

| S-EPMC11293651 | biostudies-literature

FABP1 Polymorphisms Contribute to Hepatocellular Carcinoma Susceptibility in Chinese Population with Liver Cirrhosis: A Case-Control Study.

Project description:Purpose: Single nucleotide variations in the liver fatty acid binding protein (L-FABP, FABP1) gene lead to changes in cellular signaling pathways and lipid metabolism. FABP1 polymorphisms were associated with some liver diseases, like steatotic hepatocellular carcinoma. However, the association between FABP1 rs1545224 and rs2241883 polymorphisms and hepatitis B virus-related liver cirrhosis (LC) and hepatocellular carcinoma (HCC) has not been reported. We performed this study to explore their relationship. Methods: One thousand individuals (250 healthy controls, 250 chronic HBV (CHB), 250 LC, and 250 HCC patients) were recruited. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were applied to assess the difference in allele and genotype frequencies. Cochran-Armitage trend test was used to evaluate the cumulative effect. Significant difference would be defined when the P value was less than 0.05. Results: The distribution of rs1545224 GG, AG and AA genotypes in healthy controls or CHB carriers was not significant when compared to LC or HCC patients (P>0.05). LC patients carrying at least one A allele are more likely to develop HCC in contrast with those with G allele (P<0.05). After adjustment for confounders, meaningful results were only seen in the comparison between rs1545224 AG+AA genotype carriers and GG genotype carriers among the LC patients (P<0.05). Rs2241883 polymorphism did not influence the risk of developing LC or HCC in healthy and CHB individuals, nor did it influence the risk of HCC in LC patients (P>0.05). Conclusions: Taken together, FABP1 rs1545224 polymorphism might increase HCC risk in LC patients, indicating that FABP1 rs1545224 polymorphism may be related to the process of developing HCC in Chinese patients with LC.

| S-EPMC6277622 | biostudies-literature

<i>YTHDF1</i> gene polymorphisms and neuroblastoma susceptibility in Chinese children: an eight-center case-control study.

Project description:Neuroblastoma is one of the most common life-threatening extracranial tumors that mainly occurs in children, and its genetic etiology remains largely obscure. RNA m6A modification has been thought to play a key role in cancer progression. YTHDF1 is the critical downstream gene by which RNA m6A modification exerts its functions. Single nucleotide polymorphisms in the YTHDF1 gene may affect its expression and biological activity, thereby leading to abnormalities in the regulation of downstream m6A-modified RNA and eventually promoting the initiation and development of tumors. Here, we attempted to evaluate the contributions of two polymorphisms (rs6011668 C>T and rs6090311 A>G) in the YTHDF1 gene to neuroblastoma susceptibility in 898 cases and 1734 controls that originated in China. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated in the logistic regression models to evaluate the associations between selected polymorphisms and neuroblastoma risk. Overall, either in a single locus or combination analysis, no significant association with neuroblastoma risk was found for either of the two selected polymorphisms. However, the stratified analysis showed that rs6090311AG/GG genotypes significantly reduced the neuroblastoma risk in males (adjusted OR=0.77, 95% CI=0.62-0.96, P=0.018). Moreover, we found that subjects with 2 protective genotypes had a lower tumor risk in males than in those with 0-1 protective genotypes (adjusted OR=0.77, 95% CI=0.62-0.96, P=0.018). In summary, our study indicates that YTHDF1 gene polymorphisms may weakly contribute to neuroblastoma susceptibility. Our findings should be further verified by well-designed studies with larger sample sizes.

| S-EPMC7974895 | biostudies-literature

Analyses of association between PPAR gamma and EPHX1 polymorphisms and susceptibility to COPD in a Hungarian cohort, a case-control study.

Project description:BACKGROUND: In addition to smoking, genetic predisposition is believed to play a major role in the pathogenesis of chronic obstructive pulmonary disease (COPD). Genetic association studies of new candidate genes in COPD may lead to improved understanding of the pathogenesis of the disease. METHODS: Two proposed casual single nucleotide polymorphisms (SNP) (rs1051740, rs2234922) in microsomal epoxide hydrolase (EPHX1) and three SNPs (rs1801282, rs1800571, rs3856806) in peroxisome proliferator-activated receptor gamma (PPARG), a new candidate gene, were genotyped in a case-control study (272 COPD patients and 301 controls subjects) in Hungary. Allele frequencies and genotype distributions were compared between the two cohorts and trend test was also used to evaluate association between SNPs and COPD. To estimate the strength of association, odds ratios (OR) (with 95% CI) were calculated and potential confounding variables were tested in logistic regression analysis. Association between haplotypes and COPD outcome was also assessed. RESULTS: The distribution of imputed EPHX1 phenotypes was significantly different between the COPD and the control group (P = 0.041), OR for the slow activity phenotype was 1.639 (95% CI = 1.08- 2.49; P = 0.021) in our study. In logistic regression analysis adjusted for both variants, also age and pack-year, the rare allele of His447His of PPARG showed significant association with COPD outcome (OR = 1.853, 95% CI = 1.09-3.14, P = 0.0218). In haplotype analysis the GC haplotype of PPARG (OR = 0.512, 95% CI = 0.27-0.96, P = 0.035) conferred reduced risk for COPD. CONCLUSIONS: The "slow" activity-associated genotypes of EPHX1 were associated with increased risk of COPD. The minor His447His allele of PPARG significantly increased; and the haplotype containing the minor Pro12Ala and the major His447His polymorphisms of PPARG decreased the risk of COPD.

| S-EPMC2988760 | biostudies-literature

Genetic polymorphisms in the PDZK1 gene and susceptibility to gout in male Han Chinese: a case-control study.

Project description:PDZK1 acts as a scaffolding protein for a large variety of transporter and regulatory proteins, and has been identified in the kidney. The PDZK1 locus has been determined to be associated with the serum urate concentration. However, the evidence supporting this protein's association with gout is equivocal. In the current study, we investigated the association between two single nucleotide polymorphisms (SNPs) (rs12129861 and rs1967017) in the PDZK1 gene with gout in a male Chinese Han population. A total of 824 subjects were enrolled in this case-control study (400 gout cases and 424 controls). PDZK1 genotyping was carried out by polymerase chain reaction (PCR) and ligase detection reaction (LDR) assays methods. The relationships were evaluated using the pooled odds ratios (ORs) and their 95 % confidence intervals (CI). The results of our case-control study demonstrated that the gout and control groups exhibited significant differences in the distribution of genotypes at rs12129861 (OR = 0.727, P = 0.015) and rs1967017 (OR = 0.705, P = 0.016), suggesting that PDZK1 genetic polymorphisms were associated with increased risks of gout in male Han Chinese. However, there were no differences in the distribution of genotypes at rs12129861 (odds ratio (OR) = 0.744, P > 0.05) and rs1967017 (OR = 0.706, P > 0.05) in patients with gout with kidney stones and without kidney stones.

| S-EPMC4613032 | biostudies-literature

Association between STAT3 gene polymorphisms and Crohn's disease susceptibility: a case-control study in a Chinese Han population.

Project description:BackgroundCrohn's disease (CD) is an immune-related disease with genetic predisposition. This study aimed to investigate the association of three polymorphisms in the signal transducer and activator of transcription 3 (STAT3) gene with CD risk in a Chinese population.MethodsWe conducted a hospital-based case-control study involving 232 CD patients and 272 controls. Genotyping was performed using polymerase chain reaction with sequence-specific primer method. Statistical analyses were conducted using logistic regression and genotype risk scoring.ResultsSignificant differences were found between patients and controls in allele/genotype distributions of rs744166 (Pallele=0.0008; Pgenotype=0.003) and allele distributions of rs4796793 (P = 0.03). The risk for CD associated with the rs744166-A mutant allele decreased by 37% [95% confidence interval (CI): 0.48-0.83] under the additive model, 39% (95% CI: 0.43-0.81) under the dominant model and 57% (95% CI: 0.24-0.77) under the recessive model. Carriers of the rs4796793-G mutant allele exhibited 25% (95% CI: 0.58-0.98; P=0.03) and 47% (95% CI: 0.30-0.95) decreased risks of developing CD under the additive and recessive models, respectively.ConclusionsSTAT3 rs744166 and rs4796793 polymorphisms may be associated with CD occurrence and used as a predictive factor of CD in Chinese Han populations.Virtual slidesThe virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/2169674321122294.

| S-EPMC4047544 | biostudies-literature

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