Dataset Information

The genetic relationship of SOX9 polymorphisms with osteoarthritis risk in Chinese population: A case-control study.

ABSTRACT: This research aimed to reveal the relationship of SRY-type HMG box 9 (SOX9) gene polymorphisms with osteoarthritis (OA) risk in a Chinese population.Polymerase chain reaction and direct sequencing were used for genotyping polymorphism in 152 OA patients and 139 controls. Firstly, the conformity of genotype distribution to Hardy-Weinberg equilibrium in the control group was checked. The differences in genotype and allele frequencies of our studied polymorphism were compared between the two groups using chi-square test. Odds ratio (OR) with 95% confidence interval (95%CI) was used to appraise the strength of the relationship between the polymorphism and OA occurrence. Cross-over analysis was conducted to reveal the interaction between polymorphisms in SOX9.The AA genotype of the polymorphism rs1042667 was significantly correlated to the increased susceptibility to OA (OR?=?2.075, 95%CI?=?1.042-4.132). We also detected that the A allele of the polymorphism rs1042667 also obviously increased the occurrence of OA in our study (OR?=?1.401, 95%CI?=?1.009-1.945). Moreover, the G allele of the polymorphism rs12601701 and the A allele of the polymorphism rs1042667 could significantly elevate the risk of OA (OR?=?2.075, 95%CI?=?1.021-4.218).SOX9 polymorphism rs1042667 may be a risk factor for OA in Chinese Han population. The interaction between the polymorphisms rs1042667 and rs12601701 also contribute to OA risk.

SUBMITTER: Wang Y

PROVIDER: S-EPMC6408012 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature

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The genetic relationship of SOX9 polymorphisms with osteoarthritis risk in Chinese population: A case-control study.

Wang Yongcheng Y Zhang Xinyu X Niu Xiaobo X Xu Yongsheng Y Lu Long L Li Hua H

Medicine 20190201 8

This research aimed to reveal the relationship of SRY-type HMG box 9 (SOX9) gene polymorphisms with osteoarthritis (OA) risk in a Chinese population.Polymerase chain reaction and direct sequencing were used for genotyping polymorphism in 152 OA patients and 139 controls. Firstly, the conformity of genotype distribution to Hardy-Weinberg equilibrium in the control group was checked. The differences in genotype and allele frequencies of our studied polymorphism were compared between the two groups ...[more]

PMID: 30813126

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Project description:Two common polymorphisms of the peroxisome proliferator-activated receptor gamma (PPARG) gene, rs1801282 and rs3856806, may be important candidate gene loci affecting the susceptibility to ischemic stroke. This case-control study sought to identify the relationship between these two single-nucleotide polymorphisms and ischemic stroke risk in a northern Chinese Han population. A total of 910 ischemic stroke participants were recruited from the First Hospital of China Medical University, Shenyang, China as a case group, of whom 895 completed the study. The 883 healthy controls were recruited from the Health Check Center of the First Hospital of China Medical University, Shenyang, China. All participants or family members provided informed consent. The study protocol was approved by the Ethics Committee of the First Hospital of China Medical University, China on February 20, 2012 (approval No. 2012-38-1). The protocol was registered with the Chinese Clinical Trial Registry (registration number: ChiCTR-COC-17013559). Plasma genomic DNA was extracted from all participants and analyzed for rs1801282 and rs3856806 single nucleotide polymorphisms using a SNaPshot Multiplex sequencing assay. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression to estimate the association between ischemic stroke and a particular genotype. Results demonstrated that the G allele frequency of the PPARG gene rs1801282 locus was significantly higher in the case group than in the control group (P < 0.001). Individuals carrying the G allele had a 1.844 fold increased risk of ischemic stroke (OR = 1.844, 95% CI: 1.286-2.645, P < 0.001). Individuals carrying the rs3856806 T allele had a 1.366 fold increased risk of ischemic stroke (OR = 1.366, 95% CI: 1.077-1.733, P = 0.010). The distribution frequencies of the PPARG gene haplotypes rs1801282-rs3856806 in the control and case groups were determined. The frequency of distribution in the G-T haplotype case group was significantly higher than that in the control group. The risk of ischemic stroke increased to 2.953 times in individuals carrying the G-T haplotype (OR = 2.953, 95% CI: 2.082-4.190, P < 0.001). The rs1801282 G allele and rs3856806 T allele had a multiplicative interaction (OR = 3.404, 95% CI: 1.631-7.102, P < 0.001) and additive interaction (RERI = 41.705, 95% CI: 14.586-68.824, AP = 0.860; 95% CI: 0.779-0.940; S = 8.170, 95% CI: 3.772-17.697) on ischemic stroke risk, showing a synergistic effect. Of all ischemic stroke cases, 86% were attributed to the interaction of the G allele of rs1801282 and the T allele of rs3856806. The effect of the PPARG rs1801282 G allele on ischemic stroke risk was enhanced in the presence of the rs3856806 T allele (OR = 8.001 vs. 1.844). The effect of the rs3856806 T allele on ischemic stroke risk was also enhanced in the presence of the rs1801282 G allele (OR = 2.546 vs. 1.366). Our results confirmed that the G allele of the PPARG gene rs1801282 locus and the T allele of the rs3856806 locus may be independent risk factors for ischemic stroke in the Han population of northern China, with a synergistic effect between the two alleles.

Project description:Leukoaraiosis (LA) is a frequent neuroimaging finding commonly observed on brain MRIs of elderly people with prevalence ranging from 50% to 100%. Multiple susceptibility genes or genetic risk factors for LA have been identified in subjects of European descent. Here, we report the first replication study on several common and novel genetic variations in the Chinese population. In this study, a total of 244 subjects (201 LA patients and 43 controls) were enrolled according to our new and strict definition for LA. Subsequently, 6 genetic variants at 5 genes, rs3744028 in TRIM65, rs1055129 in TRIM47, rs1135889 in FBF1, rs1052053 in PMF1, and rs1801133 (C677T) and rs1801131(A1298C) in MTHFR, were selected for genotyping using polymerase chain reaction (PCR)-based pyrosequencing and restriction fragment length polymorphism (RFLP) together with capillary electrophoresis (CE) and agarose gel electrophoresis. Finally, Pearson's ? and multivariate logistic regression tests were used to examine the associations between the genotypes and LA. Among these candidate polymorphisms, except for rs1052053 and rs1801131, rs1135889 (P?=?0.012) showed significant associations with LA in the dominant model, and the other 3 SNPs, rs3744028 (P?=?0.043), rs1055129 (P?=?0.038), and rs1801133 (P?=?0.027), showed significant associations with LA in the recessive model. However, these differences no longer remained significant after adjusting for age, gender, hypertension, and diabetes mellitus and applying Bonferroni correction or Sidak correction for multiple testing. These results suggest that the above-mentioned genetic variants are not associated with LA risk. In summary, the study did not replicate the susceptibility of rs3744028, rs1055129, and rs1135889 at the Chr17q25 locus for LA nor did it find any other significant results for rs1052053, rs1801133, and rs1801131 in the Chinese population. It strongly indicated the ethnic differences in the genetics of LA. However, the associations of rs3744028 (TRIM65), rs1055129 (TRIM47), rs1135889 (FBF1), and rs1801133 (MTHFR) with LA before Bonferroni correction and Sidak correction for multiple testing are worth highlighting. Thus, we believe that a genome-wide association study and candidate gene association studies are needed to reassess the previous findings and screen novel risk genes for LA in China.

Dataset Information

The genetic relationship of SOX9 polymorphisms with osteoarthritis risk in Chinese population: A case-control study.

Publications

The genetic relationship of SOX9 polymorphisms with osteoarthritis risk in Chinese population: A case-control study.

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