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 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.
ObjectiveTo systematically review the association between C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene and the risk of unexplained recurrent spontaneous abortion (URSA).
MethodsWe searched PubMed, EMbase, CBM, CNKI, VIP and WanFang Data from inception to May 2015 to collect case-control studies about the association between the MTHFR gene C677T and A1298C polymorphisms and the risk of URSA. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies. Then, meta-analysis was performed using RevMan 5.0 and Stata 12.0 software.
ResultsA total of 42 case-control studies involving 3 970 URSA patients and 5 297 controls were included. The results of meta-analysis showed that MTHFR C677T polymorphism was associated with the increased risk of URSA (T vs. C: OR=1.34, 95% CI 1.16 to1.54, P < 0.000 01; TT vs. TC+CC: OR=1.70, 95% CI 1.36 to 2.12, P < 0.000 01; TT+TC vs. CC: OR=1.34, 95% CI 1.11 to 1.62, P=0.002; TC vs. CC: OR=1.19, 95% CI 0.99 to 1.43, P=0.061; TT vs. CC: OR=1.95, 95% CI 1.48 to 2.56, P < 0.000 01). Subgroup analysis by ethnicity indicated that the MTHFR C677T polymorphism was associated with the increased risk of URSA in east Asians (T vs. C: OR=1.61, 95% CI 1.39 to 1.87, P < 0.000 01; TT vs. TC+CC: OR=2.05, 95% CI 1.54 to 2.71, P < 0.000 01; TT+TC vs. CC: OR=1.76, 95% CI 1.41 to 2.19, P < 0.000 01; TC vs. CC: OR=1.53, 95% CI 1.21 to 1.94, P < 0.000 01; TT vs. CC: OR=2.77, 95% CI 1.94 to 3.97, P < 0.000 01) but was not associated with the increased risk of URSA in Caucasians. The results of meta-analysis also showed that there was no significant association between the MTHFR A1298C polymorphism and the URSA in all population.
ConclusionCurrent evidence indicates that significant association is found between MTHFR C677T mutation and URSA in east Asians but not in Caucasians. Further study indicates that women carrying TT or TC gene significantly increases the risk of URSA and TT mutant gene carriers have a higher URSA risk. There is no significant association between MTHFR A1298C mutation and URSA in all population. Due to the quantity and quality limitations of included studies, more high quality case-control or cohort studies are needed to verify the above conclusions.
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 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.
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 perform a meta-analysis and investigate the correlation between angiotensin-I converting enzyme gene insertion (I), deletion (D) polymorphism and type 2 diabetic nephropathy, assessing the bias of small sample size study and heterogeneity between studies. Methods MEDLINE, EBSCO, EMbase, PubMed, CHKD, CNKI, CBM, VIP and WanFang Data were searched (from January 1994 to March 18th 2011) for relevant case-control studies. Two reviewers independently identified the literature according to inclusion and exclusion criteria. Also references of the included literature were retrieved. Then data were extracted and assessed by the Newcastle-Ottawa Scale (NOS). Meta-analysis was performed using RevMan 5.0.0 software. Results A total of 61 studies comprising 9 979 cases and 7 252 control subjects were included. There was b evidence of heterogeneity (Plt;0.05, I2=60%) and a random effect model was employed to summarize the data. Results of meta-analysis showed that T2DM patients with II genotype had lower incidences of DN than those with DD+DI genotype (OR=0.65, 95%CI 0.57 to 0.74). The results of subgroup meta-analysis showed that Chinese, Japanese and Brazilians patients with II genotype had lower incidences of DN. However, there were no relation among Caucasus, Middle-East, Indian, Mexican, Korean, and Malaysian patients. Conclusion As for T2DM patients, their angiotensin-I converting enzyme gene insertion (I), deletion (D) polymorphism relates to DN. T2DM patients with II genotype have lower incidences of DN. But the difference of this relation varies with ethnicity.
ObjectiveTo explore the associations between estrogen receptor α (ESR1) gene intron 1 PvuⅡ (?397 T/C, rs2334693), XbaⅠ (?351 A/G, rs9340799) polymorphisms and premature ovarian failure (POF).MethodsLiterature published before February 2021 were retrieved in PubMed, Web of Science, China National Knowledge Infrastructure, Wanfang, and CQVIP databases, according to the inclusion and exclusion criteria developed before. Odds ratio (OR) and 95% confidence interval (CI) were used for data analysis, the Q test and I2 statistic were used for heterogeneity analysis. Random-effect model or fixed-effect model was used according to I2 value. All analyses were performed by RevMan 5.3 software.ResultsSix case-control studies were included in this meta-analysis. For the associations between ESR1 gene intron 1 PvuⅡ polymorphisms and POF, there was no statistical difference in TT vs. CC model [OR=0.72, 95%CI (0.31, 1.70), P=0.46], TC vs. CC model [OR=1.09, 95%CI (0.83, 1.43), P=0.54], recessive model [OR=1.08, 95%CI (0.68, 1.70), P=0.74], or dominant model [OR=0.77, 95%CI (0.42, 1.42), P=0.41]. For the associations between ESR1 gene intron 1 XbaⅠ polymorphisms and POF, there was no statistical difference in AA vs. GG model [OR=0.88, 95%CI (0.44, 1.75), P=0.72], AG vs. GG model [OR=1.23, 95%CI (0.84, 1.79), P=0.29], recessive model [OR=1.14, 95%CI (0.81, 1.61), P=0.44], or dominant model [OR=0.75, 95%CI (0.41, 1.35), P=0.34], either. No statistical difference was found in the ethno-based subgroup analyses (P>0.05). Most models had obvious heterogeneities.ConclusionsCurrent evidence can’t confirm the associations between ESR1 gene PvuⅡ, XbaⅠ polymorphisms and POF. High-quality, multi-central and large-sample studies are still necessary to support this conclusion.
ObjectiveTo investigate the association between CYP11B2 gene polymorphism and left ventricular hypertrophy in Chinese hypertensive patients by the means of meta-analysis.
MethodsLiteratures about case control study on the association of CYP11B2 gene polymorphism and left ventricular hypertrophy were searched from January 1980 to December 2012.The electronic databases searched included China national knowledge internet,Chinese biological medicine disk,Vip fulltext database,Wanfang fulltext database and Pubmed.Odds ratio (OR) of CYP11B2 genotype distributions in left ventricular hypertrophy (LVH) patients against NLVH patients were analyzed.RevMan 5.1 software was applied for investigating heterogeneity among individual studies and summarizing effects across studies by proper statistical methods.
ResultsSix case-control studies were selected finally.A total of 1 791 hypertensive patients were included.The pooled OR (95% CI) of CC vs.TT+TC genotype was 1.21(0.80,1.81)(Z=0.91,P=0.36),the pooled OR (95% CI) of (TC+CC) vs.TT genotype was 1.16(0.68,1.98)(Z=0.54,P=0.59),and the pooled OR (95% CI) of C vs.T allele was 1.09(0.78,1.54)(Z=0.51,P=0.61).
ConclusionThe genotype of CYP11B2 polymorphism is not associated with an increase risk of left ventricular hypertrophy in Chinese hypertensive patients.
Objective To investigate the relationship between cyclooxygenase-2 (COX-2) gene polymorphism and genetic susceptibility to esophageal cancer. Methods The PubMed and EMbase databases were searched from the date of their establishment to January 1st, 2011 to collect the case-control studies on COX-2 polymorphism and susceptibility to esophageal cancer. For the population genotype distributions of both esophagus cancer group and control group, their odds ratios (ORs) and 95% confidence intervals (CIs) were taken as the effect indexes, either the fixed or random effect model was applied to conducted Meta-analysis in homozygote comparison, dominant and recessive genetic models, and the publication bias was assessed then. All statistical analyses were conducted with Stata11.0 software. Results A total of five case-control studies were included. The results of meta-analyses showed for the COX-2-765Ggt;C polymorphism, the CC+GC genotype was associated with the risk of esophageal cancer in a dominant genetic model (CC+GC vs. GG: OR=1.806, 95% CI 1.050 to 3.106); for the COX-2-1195Ggt;A polymorphism, the AA genotype was associated with the risk of esophageal cancer in homozygote comparison and recessive genetic models, the AA+GA genotype was associated with the risk of esophageal cancer in a dominant genetic model. Conclusion It is suggested that COX-2 polymorphism may be associated with genetic susceptibility to esophageal cancer.
