Dataset Information

Genetic association of the polymorphisms in apoptosis-related genes with osteoarthritis susceptibility in Chinese Han population.

ABSTRACT: BACKGROUND:Apoptosis is a normal physiological process in organs development, but excessive apoptosis is pathological and harmful. In previous studies, apoptosis-related genes are considered to be involved in the onset of osteoarthritis, but the mechanism is unclear. Therefore, we selected two common polymorphisms of apoptosis-related genes (BAX -248G>A, BCL2 -717C>A) to explore the relationship with osteoarthritis. METHODS:The two polymorphisms were genotyped by polymerse chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 134 cases with osteoarthritis and 142 controls. These genotypes distributions in controls were checked whether conformed to Hardy-Weinberg equilibrium (HWE). ?2 test was used to calculate odds ratio (OR) with corresponding 95% confidence interval (95% CI) which evaluated the strength of association between gene polymorphism and osteoarthritis susceptibility. RESULTS:The ?2 test showed that genotype frequencies of BAX -248G>A (rs4645878), BCL2 -717C>A (rs2279115) polymorphisms in control group were consistent with HWE. In BAX -248G>A polymorphism, compared with mutant genotype GA+AA, the common genotype GG increased the susceptibility to osteoarthritis significantly (OR=1.84, 95% CI=1.13-3.00), so G allele was (OR=1.76, 95% CI=1.16-2.68). The homozygous mutant genotype AA in BCL2 -717C>A carriers easily suffered from osteoarthritis in some condition, compared with CC genotype (P=0.03). A allele also increased 0.43 times risk of osteoarthritis development than C allele (OR=1.43, 95% CI=1.02-2.00). CONCLUSIONS:BAX -248G>A and BCL2 -717C>A polymorphisms may be the independent risk factors for the development of osteoarthritis.

SUBMITTER: Ma G

PROVIDER: S-EPMC6958211 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Genetic association of the polymorphisms in apoptosis-related genes with osteoarthritis susceptibility in Chinese Han population.

Ma Gang G Jiang Dianming D Huang Jian J

International journal of clinical and experimental pathology 20180401 4

<h4>Background</h4>Apoptosis is a normal physiological process in organs development, but excessive apoptosis is pathological and harmful. In previous studies, apoptosis-related genes are considered to be involved in the onset of osteoarthritis, but the mechanism is unclear. Therefore, we selected two common polymorphisms of apoptosis-related genes (<i>BAX</i> -248G>A, <i>BCL2</i> -717C>A) to explore the relationship with osteoarthritis.<h4>Methods</h4>The two polymorphisms were genotyped by pol ...[more]

PMID: 31938334

Similar Datasets

Project description:CYP2E1 is a member of the cytochrome P450 superfamily, which is involved in the metabolism and activation of both endobiotics and xenobiotics. The genetic polymorphisms of CYP2E1 gene (Chromosome 10q26.3, Accession Number NC_000010.10) are reported to be related to the development of several mental diseases and to be involved in the clinical efficacy of some psychiatric medications. We investigated the possible association of CYP2E1 polymorphisms with susceptibility to schizophrenia in the Chinese Han Population as well as the relationship with response to risperidone in schizophrenia patients.In a case-control study, we identified 11 polymorphisms in the 5' flanking region of CYP2E1 in 228 schizophrenia patients and 384 healthy controls of Chinese Han origin. From among the cases, we chose 130 patients who had undergone 8 weeks of risperidone monotherapy to examine the relationship between their response to risperidone and CYP2E1 polymorphisms. Clinical efficacy was assessed using the Brief Psychiatric Rating Scale (BPRS).Statistically significant differences in allele or genotype frequencies were found between cases and controls at rs8192766 (genotype p?=?0.0048, permutation p?=?0.0483) and rs2070673 (allele: p?=?0.0018, permutation p?=?0.0199, OR?=?1.4528 95%CI?=?1.1487-1.8374; genotype: p?=?0.0020, permutation p?=?0.0225). In addition, a GTCAC haplotype containing 5 SNPs (rs3813867, rs2031920, rs2031921, rs3813870 and rs2031922) was observed to be significantly associated with schizophrenia (p?=?7.47E-12, permutation p<0.0001). However, no association was found between CYP2E1 polymorphisms/haplotypes and risperidone response.Our results suggest that CYP2E1 may be a potential risk gene for schizophrenia in the Chinese Han population. However, polymorphisms of the CYP2E1 gene may not contribute significantly to individual differences in the therapeutic efficacy of risperidone. Further studies in larger groups are warranted to confirm our results.

Project description:BackgroundThe identification of susceptibility genes for specific types of cancer can provide necessary information for the complete characterization of cancer syndromes. Eight single nucleotide polymorphisms (SNPs), rs465498, rs17728461, rs4488809, rs753955, rs13361707, rs9841504, rs2274223, and rs13042395, were reported by genome wide association studies (GWASs) to be closely related to the susceptibility of lung cancer (LC), gastric cancer (GC) or esophageal cancer (EC) in Han population from northern or southern China. However, Chinese Han people from different geographic areas may have different genetic backgrounds. This study aims to assess the genetic associations of the eight SNPs mentioned above with three cancers risk in a Han population from northwest China.MethodsA total of 186 cancer-free controls and 436 cases with non-small cell lung cancer (NSCLC) (159 cases), non-cardia GC (167 cases) or EC (110 cases) were enrolled in this study. Chi-square test and polytomous logistic regression analyses were used to estimate the association between eight cancer-related SNPs and three cancers in a Han Chinese population from northwest China. The logistic regression results were adjusted for confounding factors and Benjamini and Hochberg False Discovery Rate (FDR) method was used to adjust the multiple hypothesis tests. Association analyses by cigarette smoking or alcohol drinking status were analyzed by crossover analyses.ResultsOne of the eight SNPs, rs17728461 was associated with NSCLC susceptibility (in a heterozygous model, OR = 0.44, 95% CI = 0.27-0.72, p = 0.001). Two SNPs, rs753955 and rs13042395, were associated with the risk of non-cardia GC in different genetic models (p < 0.05). No SNPs were associated with EC. The crossover analyses showed that the rs13042395 CT genotype, combined with cigarette smoking or alcohol drinking, could further increase the risk for non-cardia GC (p < 0.05).ConclusionsThese results indicated that rs17728461 may be specifically associated with the risk of NSCLC. rs753955 and rs13042395 were specifically associated with susceptibility to non-cardia GC in Ningxia Han Chinese. Susceptibility-associated polymorphisms in the northwestern Han Chinese were not very consistent with those in the northern Han Chinese or southern Han Chinese. The validation of these findings with a functional evaluation and a larger population is still required.

Dataset Information

Genetic association of the polymorphisms in apoptosis-related genes with osteoarthritis susceptibility in Chinese Han population.

Publications

Genetic association of the polymorphisms in apoptosis-related genes with osteoarthritis susceptibility in Chinese Han population.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets