ObjectiveTo investigate the distribution of uridine diphosphate-glucuronosyltransferase 1A1 (UGT1A1) gene polymorphisms in esophageal carcinoma (EC) patients, and their relationship with adverse effects (delayed diarrhea and neutropenia) of Irinotecan. MethodsForty-eight patients with esophageal squamous carcinoma who were admitted to Sichuan Provincial People's Hospital between January and October 2012 were recruited in the study. There were 37 male and 11 female patients with their age of 56 (25-38) years. Formalin-fixed, paraffin-embedded samples were collected from those EC patients and genomic DNA was extracted. UGT1A1 polymorphisms were detected by PCR and DNA sequencing. Three genetic loci were investigated including UGT1A1* 28 (TA6 > TA7), UGT1A1* 6 (211G > A) and UGT1A1* 93 (-3156G > A). Adverse effects (delayed diarrhea and neutropenia) of patients with different UGT1A1 polymorphisms after Irinotecan treatment were recorded. The relationship between UGT1A1 polymorphisms and Irinotecan-induced adverse effects was analyzed. ResultsUGT1A1 polymorphisms were detected in 10 out of 48 (20.8%) EC patients. UGT1A1* 93 (-3156G > A)polymorphisms were most common with the polymorphism rate of 16.7% (8/48), followed by GT1A1* 6 (211G > A) polymorphisms with the polymorphism rate of 4.2% (2/48). The incidences of grade 3~4 diarrhea and grade 3~4 neutropenia after Irinotecan treatment in the patients with UGT1A1 polymorphisms were 60.0% and 40.0% respectively, which were significantly higher than those of the patients with wild type UGT1A1 (21.1% and 15.8% respectively, P < 0.05). UGT1A1 polymorphism rates were 45.5% (5/11) in female patients and 13.5% (5/37) in male patients, which were significantly different (P < 0.05). ConclusionsIn EC patients, 2 polymorphism loci including UGT1A1* 93 (-3156G > A) and GT1A1* 6 (211G > A) can effectively predict adverse effects caused by Irinotecan treatment. UGT1A1 polymorphism rate of male patients is significantly lower than that of female patients.
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.
Objective To explore association of apolipoprotein B (ApoB) gene rs676210 and rs2854725polymorphisms with gallstone disease and differences of polymorphisms between Uygur population and Han population. Methods A case control study was used. One hundred and eighty-nine patients with gallstone disease from 2010 to 2014 in our hospital were collected, of which 99 cases of Uygur population and 90 cases of Han population. One hundred and ninety age- and sex-matched healthy volunteer accepted physical examination in our hospital over the same period were collected as control, of which 93 Uygur population and 97 Han population. The ApoB genotyping of DNA samples were amplified by using SNaPshot single nucleotide polymorphism (SNP). The differences of polymorphisms between Uygur population and Han population and between patients with gallstone disease and healthy volunteer were analyzed. Results ① The differences of ApoB gene rs676210 and rs2854725 allele frequencies were not found between the patients with gallstone disease and healthy volunteer whether Uygur population or Han population (Uygur population: rs676210:χ2=0.229,P=0.633; rs2854725:χ2=0.028,P=0.866. Han population: rs676210:χ2=0.608,P=0.435; rs2854725:χ2=2.673,P=0.102). ② The differences of ApoB gene rs676210 and rs2854725 allele frequencies were not found between Uygur population and Han population whether the patients with gallstone disease or healthy volunteer (Patients with gallstone disease: rs676210:χ2=0.103,P=0.748; rs2854725:χ2=3.139,P=0.076. Healthy volunteer: rs676210:χ2=0.000,P=0.990; rs2854725:χ2=2.673,P=0.102). ③ The differences of ApoB gene rs676210 and rs2854725 genotype frequencies were not found between the patients with gallstone disease and healthy volunteer whether Uygur population or Han population (Uygur population: rs676210:χ2=2.301,P=0.317; rs2854725:χ2=3.040,P=0.219. Han population: rs676210:χ2=4.909,P=0.086; rs2854725:χ2=0.107,P=0.744). ④ The differences of ApoB gene rs676210 and rs2854725 genotype frequencies were not found between Uygur population and Han population patients with gallstone disease (rs676210:χ2=0.235,P=0.899; rs2854725:χ2=3.630,P=0.057). The difference of ApoB gene rs676210 genotype frequency was not found between Uygur population and Han population with healthy volunteer (χ2=1.026,P=0.599). While the difference of ApoB gene rs2854725 genotype frequency was found between Han population and Uygur population with healthy volunteer (χ2=9.153,P=0.010). When it was compared in pairs,α=0.05/3=0.016, the difference of G/T and T/T frequencies was found between Uygur population and Han population (χ2=6.128,P=0.013), G/T of Han population (27.8%) was higher than that of Uygur population (12.9%). Conclusions ApoB gene rs676210 and rs2854725 polymorphisms are not associated with gallstone disease. For healthy volunteer, ApoB gene rs676210 polymorphism shows no ethnics-specific difference between Uygur population and Han population, but ApoB gene rs2854725 polymorphism mightbe show a difference between Uygur population and Han population. Larger sample sizes and multicenter study are needed to confirm it.
Objective To summarize results of the correlation of tumor necrosis factor-α (TNF-α) promoter –308A/G polymorphism with systemic lupus erythematosus (SLE) susceptibility in Chinese populations. Methods We collected all the publications about the correlation between TNF-α promoter –308A/G polymorphism and SLE in Chinese populations by searching PubMed, EBSCO, CBM, CNKI and Wanfang Data before the date of March 20, 2010. Meta-analysis was performed for checking the difference between two groups about genotypes such as AA versus GG, GA versus GG, AA versus GG+GA, GA+AA versus GG, and A allele versus G allele. Results A total of 8 studies involving 731 SLE patients and 901 healthy people were included. The meta-analysis of total populations showed that, there was no significant correlation between A allele and increased SLE risk (OR=1.42, 95%CI 0.97 to 2.09, P=0.07); the meta-analyses of populations in different regions showed there was no significant correlation of A allele and increased SLE risk in Chinese Taiwan populations (OR=1.04, 95%CI 0.77 to 1.40, P=0.82). Moreover, there was no significant difference between SLE group and control group in the genotypes of AA versus GG, GA versus GG, AA versus GG+GA, and GA+AA versus GG.Conclusion This meta-analysis dosen’t demonstrate the correlation between TNF-α promoter–308A/G polymorphism and SLE in Chinese populations.
ObjectiveTo investigate the relationship between the gene polymorphism of autophagy-related gene 3 (ATG3) and the development and clinical symptoms of tuberculosis in tuberculosis patients in western China.MethodsAccording to the inclusion and exclusion criteria, 476 tuberculosis patients (tuberculosis group) who were admitted to West China Hospital of Sichuan University from December 2014 to November 2015 and 475 healthy controls (healthy control group) who underwent health examination during the same period were finally included. High-throughput genotyping technology was used to detect genotypes of three single nucleotide polymorphisms (SNPs) (rs2638029, rs2638037, rs3732817) of ATG3 gene, and relevant clinical data of subjects were collected. The relationship between gene polymorphism and susceptibility to tuberculosis and clinical symptoms was analyzed by statistical methods such as χ2 test and logistic regression model.ResultsExcept for GA genotype [odds ratio (OR) =1.375, 95% confidence interval (CI) (1.048, 1.805), P=0.022] and dominant genetic model GG+GA [OR=1.326, 95%CI (1.024, 1.717), P=0.032] in rs2638037, there was no statistically significant difference in the allele frequency, genotype and genetic patterns of rs2638029, rs3732817 and rs2638037 between the two groups (P>0.05), after the adjustment of the gender and age. But after correction by Bonferroni, GA genotype and dominant genetic patterns GG+GA showed no statistical significance between the two groups (P=0.132, 0.201). Haplotype CGA was associated with tuberculosis susceptibility [OR=1.262, 95%CI (1.001,1.593), P=0.048]. There was a statistically significant difference in weight loss symptoms among rs2638037 genotypes (χ2=8.131, P=0.017).ConclusionsThe haplotype CGA of three SNPs of ATG3 gene may be involved in the development of tuberculosis. The rs2638037 single nucleotide polymorphism may be related to weight loss, and more research is needed in the future.
摘要:目的:研究高血壓病患者脂蛋白脂肪酶(liportein lipase, LPL)S447X基因多態性與認知功能之間的關系。方法: 對2008年1月至2008年11月在四川大學華西醫院醫院門診就診的原發性高血壓患者190例,收集一般資料,采用國際通用的簡易智力狀況量表測驗認知功能,計算認知評分,用聚合酶鏈反應限制性片段長度多態性(PCRRFLP)技術測定LPL S447X基因多態性。同時測定膽固醇、甘油三酯、空腹血糖、空腹胰島素及餐后2h血糖、餐后2h胰島素水平。結果: 高血壓病患者認知功能正常組和認知功能障礙組組間LPLS447X基因的基因型和基因頻率差異均無統計學意義(Pgt;0.05), SS和SX頻率分別為92.6%、7.4%,S和X等位基因頻率分別為96.3%和3.7%。結論: LPLS447X 基因多態性可能與高血壓認知功能障礙無明顯相關性。Abstract: Objective:To study the relationship between liportein lipase(LPL) S447X polymorphism and cognitive function in patients with primary hypertension. Methods:One hundred and ninety hypertensive patients from January 2008 to November 2008 in West China Hospital of Si Chuan University. We collected the general data and applied the Mini Mental State Examination to test the cognitive function and computed score. PCRRELP method was used to analyze the LPL S447X gene polymorphism. Total cholesterol、triglyeride、fasting plasma glucose and postprandial blood sugar、fasting insulin and postprandial plasma insulin were collected. Results:In primary hypertensive patients, both of the genotype frequency and the allele frequency of the LPL S447X polymorphism were not different between the cognitive normal group and the cognitive impaired group (Pgt;0.05). SS genotype was present in 0926 of the population, SX genotype was present in 0.074 of the population. allele frequencies were 0.963 for S allele and 0.037 for X allele. Conclusion:This results suggest S447X polymorphism in LPL with primary hypertension may not be associated with cognitive impairment. And age and postprandial plasma insulin level are the risk factors of hypertensive cognitive impairment.
Objective To explore the correlation between the single nucleotide polymorphism (SNP) in the promotor of hepatic l ipase (HL) gene and untraumatic avascular necrosis of the femoral head (ANFH). Methods Between January 2007 and June 2009, 243 patients with ANFH were treated (case group), including 143 cases of steroid-induced, 79 cases of alchol-induced, and 21 cases of idiopathic. There were 156 males and 87 females with an age ranged from 16 to 64 years. Atotal of 96 normal individuals (matched for age, sex, and nation) served as control group. The blood sample of all subjects were collected to extract DNA. The promotor of HL was sequenced to find the SNP. A statistic on the frequencies of the genotype and the allele of the SNP was made. The frequencies of the genotype and the allele were analyzed with χ2 test according to case-control principle. Results The rs59644784 and rs1800588 were found in the sequenced region. It was accorded with Hardy-Weinbery genetic equil ibrium law in rs59644784 and rs1800588 of the control group and case group. There was no significant difference in the allele and genotype of rs59644784 and rs1800588 between the control group and case group (P gt; 0.05). The two SNPs existed complete l inkage disequil ibrium according to the l inkage disequil ibrium analysis. Conclusion The heterozygosity of the SNP is not consistency, and heterozygosity may be associated with the diversity of the race. ANFH is not associated with rs59644784 and rs1800588 SNPs.
ObjectiveTo investigate the association between tumor necrosis factor (TNF)-α gene polymorphism and susceptibility to chronic obstructive pulmonary disease (COPD) in eastern Heilongjiang province.MethodsA total of 347 COPD patients in the Department of Respiratory Medicine, the First Affiliated Hospital of Jiamusi University, were enrolled from January 2016 to January 2017. In the same period, 338 healthy subjects in the hospital physical examination center were selected as controls. The genotype of the two groups was analyzed by high resolution melting (HRM) and gene sequencing. The genotype and allele probability of the two groups were compared and analyzed by the SHEsis genetic imbalance haplotype analysis.ResultsBoth TNF-a –308 G/A co-dominant model and recessive model have significant differences between COPD patients and healthy subjects (P=0.036, OR 1.512, 95%CI 1.023 – 2.234; P=0.027, OR 1.202, 95%CI 1.024 – 1.741). –850G/A co-dominant model (P=0.000, OR 1.781, 95%CI 1.363 – 2.329), dominant model (P=0.000, OR 0.391 7, 95%CI 1.363 – 2.329) and hyper-dominant model (P=0.000, OR 2.680, 95%CI 1.728 – 4.156) in the two groups were statistically different. The haploid analysis and haploid genotype analysis showed statistically significant differences (all P<0.05, OR>1, 95%CI>1) at +489, –308, –850 sites by allele A, G, A, respectively between the two groups. There was a significant difference in the lung function between the –308G/A, –863C/A mutant genome and the wild type (P=0.038, P=0.02) in COPD patients according to the classification of lung function.ConclusionsA allele in TNF-α –308 and G allele in TNF-α –850 locus may be risk factors for COPD in the eastern Heilongjiang Province, and the risk of homozygous genotype is higher. +489A, –308G and –850A respectively may be the predisposing factor of COPD while the three genotypes of AGA patients were at higher risk. TNF-α –308 A allele and –863 A allele are related to lung function deterioration, and the two sites with A allele in patients with COPD indicate poor lung function.
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 evaluate associations betweenMTHFD1 gene G1958A polymorphism and the risk of neural tube defects (NTDs). Methods We electronically searched databases including PubMed, The Cochrane Library, Web of Science, CNKI, VIP, and WanFang Data from inception to June 2016 to collect case-control studies of the correlation between the G1958A polymorphism inMTHFD1 and the risk of NTDs. Two reviewers independently screened the studies, extracted data and assessed the risk of bias of included studies, and then, meta-analysis was performed using Stata 12.0 software. Results Thirteen case-control studies were included, involving 1 724 NTDs infants, 1 485 mothers and 774 fathers with NTDs offspring. The results of meta-analysis showed that there was significant association betweenMTHFD1 gene G1958A polymorphism and increased risk of NTDs in infants (AAvs. GG: OR=1.437, 95%CI 1.100 to 1.878,P=0.008; AA+AGvs. GG: OR=1.187, 95%CI 1.031 to 1.367,P=0.017; Avs. G: OR=1.210, 95%CI 1.050 to 1.394,P=0.008). However, there was no association between biparentalMTHFD1 gene G1958A polymorphism and NTDs in the offspring. Conclusion The current evidence shows thatMTHFD1 gene G1958A polymorphism may be a genetic risk factor for NTDs. Due to the limited quantity and quality of the included studies, more high quality studies are needed to verify the above conclusion.