Objective To investigate the relationship of p53 codon 72 polymorphism and susceptibility to gastric cancer in high incidence area of Hexi area of Gansu province. Methods The Arg/Pro polymorphism of p53 gene was detected by real-time PCR in 140 patients with gastric cancer, 110 patients with gastric precancerous lesion and 125 healthy controls; Helicobacter pylori (Hp) infection was detected by Warthin-Starry silver method． Results The Pro allele frequencies of p53 gene in gastric cancer cases (0.543) were higher than those in gastric precancerous lesion (0.482) and controls (0.472). The Pro genotype had a more than 1.846 fold increased risk of gastric cancer 〔OR=1.846; 95% 〗CI (1.006-3.387); P =0.046〕． With statistical analysis， the genotype of p53 gene was correlated with location and Laurens histological type （ P ＜ 0.05）. A significantly higher risk of gastric cancer was also seen in cases with p53 Pro genotype, food, Hp infection, positive mind factor and positive family history． Conclusion There is a b correlation between the p53 gene codon 72 Arg/Pro polymophism and susceptibility to gastric cancer in Hexi area of Gansu province and the Pro/Pro genotype may be one of the major risk factors in patients with gastric cancer.
ObjectiveTo investigate the association between single nucleotide polymorphism (SNP) rs3754219 in the glucose transporters 1 (GLUT1) gene and genetic susceptibility to type 2 diabetes mellitus (T2DM) in Han population in Guangdong Province.MethodsA total of 1 092 T2DM patients (case group) and 1 092 healthy controls (control group) diagnosed or examined between November 2011 and October 2014 form 10 hospitals were enrolled in this study. SNPscanTM SNP classification technology was used to detect the polymorphism of rs3754219 of GLUT1 genetype. Finally, 1 067 T2DM patients and 1 054 healthy controls were included, removing 37 individuals with SNP typing deletion rates >20% and 26 individucals with failed SNP site genotyping. The differences in allele frequency distribution, genotype, and genetic models between the two groups were analyzed.ResultsAfter correction for age and body mass index, there was no statistically significant difference in allele frequency or polymorphism genotype frequency of rs3754219 (P>0.05). There was no statistically significant difference between the two groups under different genetic models (P>0.05).ConclusionGenetic susceptibility to T2DM in Han population in Guangdong Province may be unrelated to the GLUT1 rs3754219 SNP.
Objective To review the research progress in relationship between hereditary diffuse gastric cancer (HDGC) and CDH1 gene. Methods Literatures on HDGC which were published in recent years were collected and analyzed. Results Aberrant CDH1 gene is significantly correlated with HDGC: mutations of CDH1 exons play the most important role in pathogenesis of HDGC. Screening CDH1 gene mutation is useful for diagnosis of HDGC as well as the treatments. Alterations of CDH1 other than exon mutation, such as intron mutation, gene promoter methylation and single nucleotide polymorphism may result in downregulation of the gene expression. Further study should be done to confirm the roles of these alterations. Conclusions Alterations of CDH1 gene are significantly associated with the pathogenesis of HDGC. Detecting alterations of CDH1 gene are important for diagnosis and management of HDGC as well as to get insights of the pathogenesis of the disease.
ObjectiveTo investigate the associations of signal transducers and activators of transcription 6 (STAT6) gene polymorphisms with susceptibility to tuberculosis in western Chinese Han population.MethodsA total of 900 tuberculosis patients and 1 534 healthy controls of West China Hospital of Sichuan University were enrolled from January 2014 to February 2016. Improved multiplex ligation detection reaction method was used to detect four polymorphisms (rs1059513, rs73118432, rs841718, and rs10783813) of STAT6 gene. The allelic frequencies, genetic types, and different genetic models were analyzed using the chi-square test and unconditional logistic regression models to evaluate the associations of STAT6 gene with tuberculosis risk.ResultsEventually, a total of 856 cases and 1 511 health controls were recruited in our study. No significant differences were observed in allele frequencies, genotype distributions, or genetic models (additive model, dominant model and recessive model) at rs1059513, rs73118432, rs841718, and rs10783813 in STAT6 gene (P>0.05). We found a strong linkage disequilibrium among rs73118432, rs841718, and rs10783813, but there was no statistical difference in haplotype frequencies between the two groups (P>0.05).ConclusionsSTAT6 gene rs73118432, rs841718, rs10783813, and rs1059513 polymorphisms might have no associations with tuberculosis susceptibility in western Chinese Han population. Further studies with larger sample sizes are needed to comfirm these results.
ObjectiveTo understand the genetics associations between low-density lipoprotein receptor-related protein 5 (LRP5) gene polymorphisms and susceptibility of osteoporosis in patients with chronic obstructive pulmonary disease (COPD).MethodsThree hundred and seventy-nine patients with acute exacerbation of COPD were divided into groups of non osteoporosis and osteoporosis. Genomic DNA was extracted from all patients. UCSC genome browser and Haploview 4.2 software were used to screen tag single nucleotide polymorphisms (tagSNP) of LRP5 gene. The tagSNP was genotyped by Sequenom MassARRAY SNP detection method. Logistic regression were used to analysis the odds ratio (OR) values and confidence intervals (CI) of each SNP in different genetic models to assess the association between single nucleotide polymorphisms in LRP5 gene and osteoporosis in COPD patients.ResultsEight tagSNPs of LRP5 gene (rs312016 T/C, rs312017 C/T, rs312018 A/G, rs3736228 C/T, rs901823 T/C, rs589963 G/A, rs638051 A/G, rs671494 C/A) were selected for association analysis. Patients of rs901823 carrying C/C genotype had a higher risk of osteoporosis than those carrying T/T and C/T genotypes in COPD patients (in recessive mode, C/C vs. T/T+C/T, OR=9.42, 95%CI=2.01–44.29), P=0.000 431 8).ConclusionsThere is a significant association between rs901823 of LRP5 gene and osteoporosis in patients with COPD. Further studies are needed to discover the mechanism of LRP5 gene polymorphism in the pathogenesis of osteoporosis in COPD patients.
ObjectiveTo investigate the association between polymorphism of V4,F+1 in ADAM33 (adisintegrin and metalloproteinase 33) gene and COPD in a northwestern Uighur population. MethodsA total of 100 Uighur COPD patients and 140 healthy volunteers were recruited in the study. Genotypes were determined by restriction fragment lengthpolymorphism(PCR-RFLP). All subjects had a epidemiological investigation including modified british medical research council(mMRC),COPD assessment test(CAT),and pulmonary function test. The 100 Uighur COPD patients were assessed by revised GOLD2011. ResultsAssessed by revised GOLD2011,the patients of A,B and C grade accounted for 22%,35% and 30%,respectively. There was no statistical significance in the distributions of the V4,F+1 alleles between the patients and the controls(P>0.05). There was no statistical significance between SNPs in ADAM33(V4 and F+1) with the decreased lung function and the grade of COPD(P>0.05). ConclusionThere was no association between polymorphism of V4,F+1 in ADAM33 gene and COPD in a northwestern Uighur population.
Objective To reveal the association between the single nucleotide polymorphism (SNP) of v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (MAFB) gene rs17820943 locus and non-syndromic cleft l ip with or without cleft palate (NSCL/P) in the southern Chinese Han population. Methods Genotyping of MAFB gene rs17820943 polymorphism was carried out in 300 patients with NSCL/P, 354 normal controls, and an additional 168 case-parent trios with matrix-assisted laser desorption/ionisation time-of-fl ight (MALDI-TOF) mass spectrometry. Then based on the genotypingresults, both a case-control association study and a case-parent trio association study were performed. Results Significant differences were found in the allele and genotype frequencies of rs17820943 locus between case and control groups (Pallele=0.001 and Pgenotype=0.002, respectively). To be specific, the odds radio (OR) values and 95% confidence interval (95%CI) of allele T (frequencies of cases ∶ controls = 0.358 ∶ 0.448) and genotype TT (frequencies of cases ∶ controls = 0.110 ∶ 0.195) were ORT = 0.69 (95%CI: 0.55-0.86) and ORTT = 0.43 (95%CI: 0.26-0.70), respectively. Subsequent case-parent trio analysis also indicated an association between MAFB rs17820943 variant and the risk of NSCL/P (ORT vs. C = 0.55, 95%CI: 0.41-0.75, P value of transmission disequilibrium test was 0.000). Conclusion Polymorphism of MAFB gene rs17820943 locus is associated with NSCL/P in the southern Chinese Han population; MAFB rs17820943 variant may be a susceptible gene of NSCL/P.
Objective To explore the causal relationship between gut microbiota and urinary tract infections (UTI) using data from genome-wide association studies. Methods The gut microbiota data were sourced from the MiBioGen consortium, comprising genetic variables from 18 340 individuals. UTI data (ieu-b-5.65) were derived from the UK Biobank. Six methods including inverse variance weighted (IVW), Mendelian randomization (MR)-Egger, maximum likelihood, simple mode, weighted mode, and weighted median were employed for two-sample MR analysis on these datasets. Additionally, MR-PRESSO was used to detect and correct for heterogeneity and outliers in the analysis. Cochran’s Q test and leave-one-out analysis were applied to assess potential heterogeneity and multiple effects. Furthermore, reverse MR analysis was conducted to investigate causal relationships between UTI and gut microbiota. Results According to IVW method analysis results, bacterial genera Eggerthella (OR=1.08, 95%CI 1.01 to 1.16, P=0.034) and Ruminococcaceae (UCG005) (OR=1.10, 95%CI 1.01 to 1.20, P=0.022) were found to increase the risk of UTI, while Defluviitaleaceae (UCG011) (OR=0.90, 95%CI 0.82 to 0.99, P=0.022) appeared to decrease it. Reverse MR analysis did not reveal a significant effect of UTI on these three bacterial genera. Our study found no evidence of heterogeneity or pleiotropy based on the results of Cochran’s Q test, MR-Egger, and MR-PRESSO global test. Conclusion In this MR study, we demonstrate a causal association between Eggerthella, Ruminococcaceae, Defluvitalaceae and the risk of urinary tract infections.
ObjectiveTo explore the relationship between the single nucleotide polymorphisms of interleukin (IL)-23R gene and susceptibility to pulmonary tuberculosis in Southwest Chinese Han population.MethodsA total of 680 pulmonary tuberculosis patients (pulmonary tuberculosis group) and 680 healthy controls (healthy control group) diagnosed or examined between January 2014 and February 2016 were recruited from West China Hospital, Sichuan University. Improved multiplex ligation detection reaction (iMLDR) method was used to detect the polymorphism of rs1495965, rs7518660, rs7532161, rs10889677 and rs11465802 of IL-23R gene. The differences in allele frequency distribution, genotype, and genetic model of these five loci between pulmonary tuberculosis patients and healthy control were conducted by using SPSS20.0 and PLINK 1.07. Linkage disequilibrium and haplotype analysis were also carried out by Haploview 4.2.ResultsFinally, 657 pulmonary tuberculosis patients and 669 healthy controls were enrolled for further analyzed. The difference in the allele frequency distribution A (P=0.048), AA genotype (P=0.048) and additive model AA/GG (P=0.048) in rs1495965 was significant between the pulmonary tuberculosis group and healthy control group when we adjusted the gender and age. However, after correction by Bonferroni, the differences in allele frequency distribution, genotype and additive model of all these five loci between the two groups were not statistically significant (P>0.05). rs7518660, rs10889677 and rs11465802 had strong linkage disequilibrium (LD) with each other (r2>0.80); however, there was no association between haplotype GCA and tuberculosis susceptibility (P=0.343).ConclusionsThere is no association between rs1495965, rs7518660, rs7532161, rs10889677 and rs11465802 of IL-23R gene and genetic pulmonary tuberculosis susceptibility in Southwest Chinese Han population. To add loci in the coding region and analysis in different populations is necessary.
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.