ObjectiveTo investigate the relationship between the polymorphisms of estrogen receptor α (ERα) gene PvuⅡ, XbaⅠ and breast hyperplasia. MethodsPolymerase chain reaction-restriction fragment length polymorphism was used to detect the polymorphisms of ERα gene PvuⅡ, XbaⅠ in breast hyperplasia patients (study group, n=89) and healthy controls (control group, n=35). ResultsThe differences of the genotypic frequency and allele frequency of the ERα gene Xba Ⅰ were significant between the study group and the control group (Plt;0.05). According to analysis of the odds ratio (OR), the risk of developing breast hyperplasia for X allele carriers was 0.551 as compared with x allele carriers. But there was no significant difference for the gene polymorphism of PvuⅡ between the study group and the control group (Pgt;0.05). ConclusionThe polymorphisms of XbaⅠof ERα gene is associated with breast hyperplasia and the mutant gene increases breast hyperplasia risk.
Objective To analyze a possible association of -A930G and C242T polymorphism with cognitive dysfunction in obstructive sleep apnea (OSA) patients, and assess potential interactions of CYBA alleles in OSA patients with cognitive dysfunction. Methods A total of 157 OSA patients with cognitive dysfunction were recruited as an experimental group, and 526 matched OSA patients without cognitive dysfunction as an control group. The neurocognitive assessment, polysomnography, genetic analyses, NADHP oxidase (NOX) activity, determination of urinary 8-OH-dG were completed in all subjects. Results Frequencies of the -930G allele carriers were not significantly different between two groups (P>0.05). Frequencies of the TT/CT genotypes were significantly higher in the OSA patients without cognitive dysfunction (P<0.05). NOX activity was assessed and found to be increased in the OSA patients with cognitive dysfunction (P<0.01). NOX activity was significantly higher in whom the allelic T variant was absent (P<0.05). The level of urinary 8-OH-dG was higher in the OSA patients with cognitive dysfunction (P<0.05). The level of urinary 8-OH-dG was significantly higher in whom the allelic T variant was absent (P<0.05). Conclusion The p22phox C242T polymorphism may be involved in the development of oxidative stress reaction in OSA patients with cognitive dysfunction.
ObjectiveTo investigate the correlation between TLR5 rs5744174 gene polymorphism and Streptococcus pneumoniae pneumonia.MethodsOne-hundred and six patients with Streptococcus pneumoniae pneumonia admitted to this hospital from January 2014 to October 2018 were selected as an observation group, and 85 healthy subjects were selected as a control group during the same period. The clinical and pathological data of the subjects were collected, polymorphism of TLR5 rs5744174 gene was analyzed by PCR and sequencing, and the relationships between cell classification count, C-reactive protein (CRP) level in bronchoalveolar lavage fluid (BALF) and TLR5 rs5744174 gene polymorphism in the patients with Streptococcus pneumoniae pneumonia were analyzed.ResultsThere were significant differences in age, smoking, alcoholism, diabetes and the other general data between the observation group and the control group (P<0.05). The distribution of TLR5 rs5744174 genotype in the observation group and the control group was in accordance with Hardy-Weinberg equilibrium test level (χ2=16.89 for the observation group, χ2=10.76 for the control group, both P>0.05). There was no significant difference in the distribution frequency of TLR5 rs5744174 (C < T) genotype and allele between the two groups (P>0.05). There were significant differences in the proportion of diabetes mellitus among the three genotypes (CC, CT, TT) of the patients with Streptococcus pneumoniae pneumonia (P<0.05). The percentage of neutrophils and CRP levels in BALF were significantly different (P<0.05).ConclusionThe polymorphism of TLR5 rs5744174 gene may not be related to the occurrence of Streptococcus pneumoniae pneumonia, but is related to the proportion of complicated diabetes mellitus, the percentage of neutrophils and the level of CRP in patients with Streptococcus pneumoniae pneumonia, which may affect the degree of inflammation.
Objective To evaluate the correlation of TNF-α G308A polymorphism and rheumatic heart disease (RHD) using meta-analysis. Methods Databases including PubMed, EMbase, CNKI and WanFang Data were searched to collect case-control study on the correlation of TNF-α G308A polymorphism and RHD, published from January 1990 to June 2011. Two reviewers independently screened studies according to the inclusion and exclusion criteria, extracted data and evaluated the methodological quality of the included studies. Then meta-analysis was performed using RevMan 5.1 and SPSS 16.0. Results A total of 5 studies were included, involving 539 RHD cases and 624 controls. The results of meta-analysis according to recessive genetic model of TNF-α G308A showed that there were significant differences in RHD risk between the AA genotype carriers and the GA+GG genotype carries (OR=5.06, 95%CI 2.15 to 11.89, P=0.0002), the same as the results of meta-analysis calculated according to dominant genetic model (OR=3.14, 95%CI 1.05 to 9.38, P=0.04). Conclusion Current evidence shows that TNF-α G308A polymorphism is related to RHD, and the AA genotype carriers tend to face an increasing RHD risk. This conclusion still needs to be further proved by more high-quality and large-scale clinical trials.
ObjectiveTo introduce transforming growth factor β(TGFβ) and the relationship between TGFβ and graft rejection. Methods Relevent articles in recent years were reviewed.ResultsThe immunodepressive function of TGFβ could resist transplant organ rejection injury in early postoperative period ; meanwhile TGFβ also caused fibroblast migration and promoted matrix deposition by increasing collagen production and decreasing collagen breakdown via inhibition of collagenases,which resulted in transplant organ fibrosis and arteriosclerosis, gene polymorphisms of the TGFβ were associated with it. Moreover,ischemia reperfusion injury and immunodepressive drug also affected production of TGFβ.ConclusionTGFβ as a pleiotropic and multifunctional cytokine contributes to the development of acute and chronic rejection.
Objective To explore the association between manganese superoxide dismutase (MnSOD) Val-9Ala polymorphism and breast cancer risk and to investigate the interaction with menopausal status by meta-analysis. Methods Such databases as The Cochrane Libtary (Issue1, 2010), Pubmed, CBM, CNKI and WanFang Data were searched from the date of their establishment to October, 2010, and the case-control studies of MnSOD Val-9Ala polymorphism and breast cancer risk were collected according to the inclusion and exclusion criteria. Then the quality of the included trials was assessed and meta-analysis was performed by RevMan 4.2.10 software. Results A total of 14 studies involving 17 842 patients were included. The results of meta-analyses showed no significant relation between MnSOD Val-9Ala polymorphism and the breast cancer susceptibility (Val/Ala vs. Val/Val: OR=1.04, 95%CI 0.93 to 1.17; Ala/Ala vs. Val/Val: OR=1.12, 95%CI 0.95 to 1.33; Ala/Ala vs. Val/Ala+Val/Val: OR=1.06, 95%CI 0.93 to 1.20; Val/Ala+ Ala/Ala vs. Val/Val: OR=1.06, 95%CI 0.94 to 1.10). However, in the subgroup analysis, the breast cancer risk significantly increased for premenopausal women (Val/Ala+Ala/Ala vs. Val/Val: OR=1.15, 95%CI 1.01 to1.31). Conclusion This meta-analysis suggests that the MnSOD Val-9Ala polymorphism is not significantly associated with the breast cancer susceptibility, but it may increase the risk of breast cancer in the presence of menopausal state.
Objective To evaluate the association between N-acetyltransferase 2 (NAT2) gene polymorphisms and the risk of antituberculosis drug-induced liver injury (ATDILI). Methods We searched the PubMed, Embase, Wanfang, China National Knowledge Internet and VIP databases to find case-control studies, with the last updated search being performed on June 2017. Odds ratio (OR) with 95% confidence interval (CI) was calculated to evaluate the strength of association. Results A total of 29 studies, involving 1 382 cases and 5 967 controls were included. The results of the Meta-analysis indicated that NAT2 slow acetylators were associated with increased risk of ATDILI compared with fast and intermediate acetylators [OR=3.08, 95%CI (2.44, 3.88), P<0.000 01]. Similar results were also found in subgroup analysis when stratified by ethnicity, isoniazid dosage and diagnostic criteria of ATDILI. Conclusion Individuals with NAT2 slow acetylators may have increased risk of ATDILI.
Objective To evaluate the relationship between angiotension-converting enzyme (ACE) gene polymorphism and susceptibility to cerebral hemorrhage among the Han Chinese population. Methods We electronically searched CNKI, CBM, VIP, and Wanfang technological periodical full-text databases from January, 1998 to January, 2009. We identified case-control studies of ACE gene polymorphism and cerebral hemorrhage among the Han Chinese population, and assessed the quality of included studies. The data were quantitatively analyzed by RevMan 4.3 software. Results Meta-analysis results showed that the pooled OR value of cerebral hemorrhage subjects among the Han Chinese population with at least one D allele was 1.42 (95%CI1.13 to1.78). The pooled OR values of cerebral hemorrhage with DD and II genotype were 1.9 (95%CI1.32 to 2.74) and 0.80 (95%CI0.63 to 1.01) respectively. Conclusion ACE gene polymorphism is significantly associated with susceptibility to cerebral hemorrhage in the Han Chinese `population.
ObjectiveTo investigate the role of leptin receptor gene Gln223Arg polymorphism in pathogenesis of asthma. MethodsOne hundred and eighty-five asthmatic outpatients and inpatients in the Qingdao Municipal Hospital between June 2009 and May 2012 were recruited in the study.Two hundred and seven healthy volunteers were recruited as control.Peripheral blood was sampled from all subjects for measuring serum leptin level by ELISA,and analyzing leptin receptor gene Gln223Arg genotypes by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) in white blood cells. ResultsThere was significant difference in frequency distribution of leptin receptor gene Gln223Arg genotype between the asthma group and the health group (χ2=6.173,P=0.013,OR=1.697,95%CI 1.115-2.585).The GG genotype was associated with a 1.895-fold increased risk for asthma than the GA+AA genotype (χ2=7.283,P=0.007,OR=1.895,95%CI 1.187-3.024).The serum leptin level of the GG genotype group was significantly higher than that in the GA+AA genotype group[(2.56±1.47) ng/mL vs.(2.16±1.66) ng/mL]. ConclusionLeptin receptor gene Gln223Arg polymorphism is correlated with asthma, and the G allele might be the genetic factor that contributes to individual susceptibility for asthma by causing high serum leptin level.
ObjectiveTo review the recent progress in research on the role of estrogen and estrogen receptor on the onset and progression of adolescent idiopathic scoliosis (AIS). MethodsThe recently published clinical and experimental 1iterature at home and abroad on abnormality of estrogen and its receptor in AIS was reviewed and summarized. ResultsThere are many abnormal changes of estrogen and estrogen receptor in most AIS patients, including higher serum estrogen concentration, unusual cellular response to estrogen, late age at menarche, and gene polymorphisms of estrogen receptor, which are closely associated with AIS predisposition, curve severity, and scoliosis progression. ConclusionEstrogen and its receptor participate in the onset and progression of AIS by certain mechanisms, but exact mechanism remains indefinite, which needs further research to better define the role of estrogen and its receptor in AIS.