Objectives Tumor necrosis factor-α (TNF-α) may play an important role in host's immune response to mycobacterium tuberculosis (M. Tuberculosis) infection. This study was to investigate the association of TNF-α gene polymorphism with pulmonary tuberculosis (TB) among patients with coal worker's pneumoconiusis (CWP). Methods A case-control study was conducted in 113 patients with confirmed CWP complicated with pulmonary TB and 113 non-TB controls with CWP. They were matched in gender, age, job, and stage of pneumoconiosis. All participants were interviewed with questionnaires and their blood specimens were collected for genetic determination with informed consent. The TNF-α gene polymorphism was determined with polymerase chain reaction of restriction fragment length polymorphism (PCR-RFLP). Frequency of genotypos was assessed for Hardy-Weinberg equilibrium by chi-square test or Fisher's exact probability. Factors influencing the association of individual susceptibility with pulmonary TB were evaluated with logistic regression analysis. Gene-environment interaction was evaluated by a multiplicative model with combined OR. All data were analyzed using SAS version 8.2 software. Results No significant difference in frequency of the TNF-α-308 genotype was found between CWP complicated with pulmonary TB and non-TB controls (2,2=5.44,P=0.07). But difference in frequency of the TNF-α-308 A allele was identified between them (X2=5.14, P=0.02). No significant difference in frequencies of the TNF-α-238 genotype and allele (P=0.23 and P=0.09, respectively) was found between cases and controls either, with combined (GG and AA) OR of 3.96 (95% confidence interval of 1.30～12.09) at the -308 locus of the TNF-α gene, as compared to combination of the TNF-α-238 GG and TNF-α-308 GG genotypes. Multivariate-adjusted odds ratio of the TNF-α-238 GG and TNF-α-308 GA genotypos was 1.98 (95% CI of 1.06～3.71) for risk for pulmonary TB in patients with CWP. There was a synergic interaction between the TNF-α-308 GG genotype and body mass index (OR=4.92), as well as an interaction between the TNF-α-308 GG genotype and history of BCG immunization or history of TB exposure. And, the interaction of the TNF-α-238 GG genotype and history of BCG immunization or TB exposure with risk for pulmonary TB in them was also indicated. Conclusions TNF-α-308 A allele is associated with an elevated risk for pulmnonary TB, whereas TNF-α-238 A allele was otherwise.

AIM To establish a model system for studying gastric carcinogenesis of MNNG, a gastric cancer relatedcarcinogen.METHODS Cell culture transformation, PCR-restriction fragment length polymorphism (PCR-RFLP),DNA blotting and immunochemical techniques and analysis of LDH isozyme and chromosome wereperformed.RESULTS GES-1 cells surviving by MNNG treatment were named MC (2 × 105M for 24 hours) and MC-B(2 × 10-7M for 7 days). The two cell lines treated by MNNG showed more malignant than maternal cell GES-1 with the evidences of more chromosome aberrations, abnormal morphology and eytoskeleton and alsogained the ability of colony formation on soft agar. C-Ha-ras gene point mutation in the 12th codon and LDHisoenzyme abnormal express were found in MC-B cells. In addition, C-met gene rearrangement was revealedby Southern blot analysis in MC-B and MC.CONCLUSION This gastric epithelial cell system is an important model system for further study of stomachcancer, MNNG had a selective effect on the cytoskeleton mierofilament in human gastric epithelial cells andintimately associated with the activation of certain oncogenes and some protein.

Objective To investigate the relationship between single nucleotide polymorphisms (SNPs) of the interleukin-4 (IL-4) gene and outcome of hepatitis B virus (HBV) infection in a Chinese Han population.
Methods Total of 501 patients with chronic hepatitis B virus (HBV) infection and 301 controls with self-limiting HBV infection were studied. Three tag SNPs in the IL-4 gene (rs2227284G/T, rs2243283C/G and rs2243288A/G) were genotyped by the Multiplex snapshot technique. The genotype and allele frequencies were calculated and analyzed.
Results The three SNPs showed no significant genotype/allele associations with chronic HBV infection. Overall allele P values were:rs2227284, P=0.655, odds ratio (OR) [95%conifdence interval (CI)]=1.070 (0.793-1.445);rs2243283, P=0.849, OR (95%CI)=0.976 (0.758-1.257);rs2243288, P=0.659, OR (95%CI) = 1.060 (0.818-1.375). Overall genotype P values were: rs2227284, P = 0.771; rs2243283, P = 0.571;rs2243288, P=0.902. There were no statistically signiifcant differences between patients with chronic HBV infection and controls. Haplotypes generated by these three SNPs also had no signiifcant differences between the two groups.
Conclusions The three tag SNPs of IL-4 were not associated with the outcome of HBV infection in the Han Chinese population.

Current evidence shows that apolipoprotein E (APOE), apolipoprotein CI (APOC1) and low density lipoprotein receptor-related protein (LRP) variations are related to late-onset Alzheimer’s disease. However, it remains unclear if genetic polymorphisms in these genes are associated with cognitive decline in late-onset Alzheimer’s disease patients. We performed a 30-month longitudi-nal cohort study to investigate the relationship between Alzheimer’s disease and APOE, APOC1, and LRP. In this study, 78 Chinese Han patients with late-onset Alzheimer’s disease were recruit-ed form Guangxi Zhuang Autonomous Region in China. APOE, APOC1, and LRP genotyping was performed using polymerase chain reaction-restriction fragment length polymorphisms. The Mini-Mental State Examination and Clinical Dementia Rating Scale were used to assess pa-tients’ cognitive function. After a 30-month follow-up period, we found a signiifcant reduction in Mini-Mental State Examination total score, a higher proportion of patients fuliflling cognitive impairment progression criteria, and a higher proportion of APOC1 H2 carriers in APOEε4 carriers compared with non-carriers. In addition, the APOEε4 allele frequency was signiifcantly higher in the cognitive impairment progression group compared with the non-cognitive im-pairment progression group. In conclusion, APOEε4 plays an important role in augmenting cognitive decline, and APOC1 H2 may act synergistically with APOEε4 in increasing the risk of cognitive decline in Chinese patients with late-onset Alzheimer’s disease.

Objective To investigate the correlation between drinking behavior combined with polymorphisms of extracellular superoxide dismutase (EC-SOD) and aldehyde dehydrogenase-2 (ALDH2) genes and pancreatic cancer.
Methods The genetic polymorphisms of EC-SOD and ALDH2 were analyzed by polymerase chain reaction restriction fragment length polymorphism in the peripheral blood leukocytes obtained from 680 pancreatic cancer cases and 680 non-cancer controls. Subsequently the frequency of genotype was compared between the pancreatic cancer patients and the healthy controls.The relationship of drinking with pancreatic cancer was analyzed.
Results The frequencies of EC-SOD (C/G) and ALDH2 variant genotypes were 37.35% and 68.82%respectively in the pancreatic cancer cases, and were significantly higher than those in the healthy controls (21.03% and 44.56%, all P<0.01). People who carried EC-SOD (C/G) (OR=2.24, 95% CI=1.81-4.03, P<0.01) or ALDH2 variant genotypes (OR=2.75, 95%CI=1.92-4.47, P<0.01) had a high risk to develop pancreatic cancer. Those who carried EC-SOD (C/G) genotype combined with ALDH2 variant genotype had a high risk for pancreatic cancer (29.56%vs. 6.76%, OR=7.69, 95%CI=3.58-10.51, P<0.01). The drinking rate of the pancreatic cancer group (64.12%) was significantly higher than that of the control group (40.15%; OR=2.66, 95% CI=1.30-4.42, P<0.01). An interaction between drinking and EC-SOD (C/G)/ALDH2 variant genotypes increased the risk of occurrence of pancreatic cancer (OR=25.00, 95%CI=11.87-35.64, P<0.01).
Conclusion EC-SOD (C/G), ALDH2 variant genotypes and drinking might be the risk factors of pancreatic cancer.

Association study between the angiotensin converting enzyme gene insertion/deletion polymorphism and Qinghai Han Chinese with congenital heart disease

Toll-样受体4基因单核苷酸多态性与中国汉族患者脓毒症的相关性

Objective To investigate the correlation between Toll-like receptor 4 (TLR4) single nucleotide polymorphism (SNP) and the risk,severity and prognosis of sepsis in Chinese patients of Han nationality.Methods One hundred and three Han nationality patients who developed sepsis after surgery,aged 18-80 years,were enrolled in the sepsis group,and 114 Han nationality patients without sepsis after surgery,aged 18-80 years,were enrolled in the control group.Venous blood samples were taken from the peripheral vein and three SNPs in TLR4 gene,rs10759932,rs11536889 and rs2737190,were genotyped by matrix-assisted laser desorption ionization time of flight mass spectrometry analysis.Correction for Logistic regression analysis was made to eliminate the effects of sex,age,underlying diseases and operation methods.The correlation between genotypes of SNP and occurrence of sepsis,organ dysfunction,septic shock and death from sepsis was analyzed.The odds ratio (OR) and 95％ confidence interval (Cl) were calculated.Results Compared with the control group,there was a significant difference in genotype frequency ratios of rs10759932 (P ＜ 0.05),but there was no significant difference in genotype frequency ratios of the other two SNPs in sepsis group (P ＞ 0.05).There was correlation between rs10759932 and the occurrence of sepsis,and the variant allele (CT + CC genotypes) of rs10759932 increased the risk of sepsis (OR =1.86,95％ Cl 1.17-2.97,P ＜ 0.05).There was no correlation between the three SNPs and sepsis-related organ dysfunction,septic shock and death from sepsis (P ＞ 0.05).Conclusion There is correlation between the variant allele of TLR4 rs10759932 and the increase in risk of sepsis after surgery in Chinese patients of Han nationality.

中国汉人 X染色体上情感障碍易感性基因的遗传学研究及关联分析

Objective In order to detect the Susceptible gene on X chromosome for Han nationality of Chinese who suffer from affective disorder(AD),to explore the association between DXS1114 polymorphism and AD and the feature of genetics.Method We used the technique of the amplified fragment length polymorphism(Amp FLP)to detect the polymorphism distribution of DXS1114 for 40 patients with AD and 40 normal controls.Results We found that there were 4 polymorphism fragments of DXS1114 on the γ -chromosome in AD and normal controls.The result of statistics showed that four polymorphism fragments(117bp.113bp.111bp 109bp)had not significant difference(P>0.05)between patients and normal controls.Conclusion We report that the DXS1114 is not associated with Chinese who suffer from AD.The results indicate that there maybe no a susceptible gene of AD on xq26.1 in our research simples.

MDR1基因+3435C/T基因型单核苷酸多态性对硼替佐咪治疗的多发性骨髓瘤预后的影响

目的 探讨MDR1基因+3435C/T的单核苷酸多态性对硼替佐咪治疗的多发性骨髓瘤患者预后的影响.方法 采用DNA测序方法检测MDR1基因+3435C/T的单核苷酸多态性;应用Kaplan-Meier来确认MDR1基因+3435C/T的单核苷酸多态性对硼替佐咪治疗/未治疗患者生存率的影响.结果 52.8%(n=47)的多发性骨髓瘤患者MDR1+3435位点的基因型为C/T,其余多发性骨髓瘤患者MDR1+3435位点的基因型均为T/T.MDR1+3435 C/T基因型的患者的平均生存期为43.3月,而MDR1+3435 T/T基因型的患者的平均生存期为37.5月,二者有显著差异性(P＝0.024).在硼替佐咪治疗(n=44)组中,MDR1+3435C/T (n=22)与MDR1+3435 T/T(n=22)基因型相比,患者生存期有显著差异(P＝0.041).结论 本实验中,相比于MDR1+3435 T/T基因型,多发性骨髓瘤患者的MDR1+3435C/T基因型具有高频性,该多态性对硼替佐咪治疗的多发性骨髓瘤患者生存期有显著影响.

ERβ基因RsaI多态性可能降低精子受精力及胚胎的发育潜能

中国人群XRCC1基因多态与原发性无精子症的关联

目的:通过研究DNA损伤修复基因XRCC1的启动子区多态位点(T-77C)和外显子区多态位点(Arg194Trp与Arg399Gln)与罹患无精子症风险的关联来评价XRCC1的遗传多态性在精子发生中的作用.方法:运用RCR-RFLP方法研究XRCC1的三个多态位点在171名无精子症病例和247名正常对照中的基因型频率和等位基因频率分布.结果:三个多态位点的基因型频率均符合Hardy-Weinberg平衡定律.399A等位基因(GA+AA)频率在病例和对照中的分布分别是0.216和0.269.Arg399Gln的AA基因型较之GG基因型,可以显著降低无精子症发生的风险(OR=0.315;95％置信区间=0.12-0.86).但T-77C与Arg194Trp位点的基因型、等位基因频率在病例与对照组的分布无显著性差异.XRCC1的三个多态位点的

Numerous studies have shown associations between the FOXO3Agene, encoding the forkhead box O3 transcription factor, and human or speciifcally male longevity. However, the associations of speciifc FOXO3A polymorphisms with longevity remain inconclusive. We performed a meta-analysis of existing studies to clarify these potential associations. A comprehensive search was conducted to identify studies of FOXO3A gene polymorphisms and longevity. Pooled odds ratios (ORs) and 95%conifdence intervals (CIs) were calculated by comparing the minor and major alleles. A total of seven articles reporting associations of FOXO3A polymorphisms with longevity were identiifed and included in this meta-analysis. These comprised 11 independent studies with 5241 cases and 5724 controls from different ethnic groups. rs2802292, rs2764264, rs13217795, rs1935949 and rs2802288 polymorphisms were associated with human longevity (OR=1.36, 95%CI=1.10-1.69, P=0.005;OR=1.20, 95%CI=1.04-1.37, P=0.01;OR=1.27, 95%CI=1.10-1.46, P=0.001;OR=1.14, 95%CI=1.01-1.27 and OR=1.24, 95%CI=1.07-1.43, P=0.003, respectively). Analysis stratiifed by gender indicated signiifcant associations between rs2802292, rs2764264 and rs13217795 and male longevity (OR=1.54, 95%CI=1.33-1.79, P<0.001;OR=1.38, 95%CI=1.15-1.66, P=0.001;and OR=1.39, 95%CI=1.15-1.67, P=0.001), but rs2802292, rs2764264 and rs1935949 were not linked to female longevity. Moreover, our study showed no association between rs2153960, rs7762395 or rs13220810 polymorphisms and longevity. In conclusion, this meta-analysis indicates a signiifcant association of ifve FOXO3Agene polymorphisms with longevity, with the effects of rs2802292 and rs2764264 being male-speciifc. Further investigations are required to conifrm these ifndings.

The relationship between single nucleotide polymorphisms in estrogen-metabolizing genes CYP1A1,CYP17,COMT and estrogen receptor alpha and the risk of endometrial adenocarcinoma among the Chinese women

Objective:To explore whether polymorphisms of the genes responsible for catechol estrogen(CE) formation via estrogen biosynthesis (CYP17) and hydroxylation (CYP1A1) and CE inactivation (COMT) and ERa are associated with an elevated risk for endometrial adenocarcinoma in Chinese women.Methods:A multigenic case-control study was conducted,eighty-seven endometrial adenocarcinoma patients and ninety controls were recruited.PCR-RFLP assays were used to determine the genotypes of estrogen-metabolizing genes and ERa gene.Results:The endometrial adenocarcinoma risk associated with individual susceptibility genotypes varied among the six polymorphic sites and was the highest for CYP17,followed by CYP1A1 Ile-Val,CYP1A1 MspI,COMT,ERa XbaI and ERa PvuII.Multivariate logistic regression showed the CYP1A1 MspI genotype was the most significant determinant for endometrial adenocarcinoma development and was associated with a 3.61 fold increase in risk (95% confidence interval,1.73～7.55).Furthermore,a trend of increasing risk for developing endometrial adenocarcinoma was found in women harboring higher numbers of high-risk genotypes.Conclusion:The CYP1A1,CYP17 and ERa XbaI genotypes are related to the susceptibility of endometrial adenocarcinoma,they may be useful markers for predicting endometrial adenocarcinoma susceptibility.The allele encoding for low acticity COMT,ERa PvuII may not be a genetic risk factor for endometrial adenocarcinoma.

Hemostatic genes in symptomatic and hidden forms of thrombotic complications in obstetrics

Association of RFC-1 80A→G and MTHFR 677C→T polymorphisms with neural tube defects in Ukrainian population

Genetic analysison the association between polymorphisms of UGT1A1and GST and neonatal hyperbilirubinemia

Association of IFNGR2and IL-12B gene polymorphisms with susceptibility to hand,foot and mouth disease infected by EV71

The inverse cancer comorbidity in schizophrenia patients may be related to the genetic factors ,involving the regu‐lation of apoptosis .The tumour suppressor gene TP53 ,involved in neural apoptosis ,is one of the potential candidate genes associat‐ed with schizophrenia which might reduce colorectal cancer risk .We recruited 270 schizophrenia patients and 312 colorectal cancer patients without schizophrenia .To examine the genetic association between schizophrenia and colorectal cancer ,we analysed eight SNPs (rs12951053 ,rs1625895 ,rs2909430 ,rs9895829 ,rs1042522 ,rs8079544 ,rs8064946 ,rs17806770) covering 14 .35 kb in the re‐gion of TP53 .We observed that one of the eight genetic polymorphisms showed statistically significant differences between the colo‐rectal cancer subjects and the schizophrenia subjects (rs12951053 ,P=0 .000 1 ,OR 1 .70 ,95% CI 1 .30-2 .23) .In addition ,the hap‐lotype of A‐G (rs12951053‐rs8064946) ,giving a global P=0 .001 8 ,was the most significant .Our data indicate that the polymor‐phisms of rs12951053 in TP53 confer reduced susceptibility to colorectal cancer and suggest a potential protective mechanism a‐gainst colorectal cancer in the schizophrenia patients of Han Chinese origin .

Association of Five SNPs at the PARK16 locus as a Susceptibility Locus with Parkinson's Disease for Forensic Application

Genetic Polymorphisms of15STR Loci in Gansu Hui Population

The short tandem repeat (STR) markers are widely used in human identification and paternity testing in the field of forensic genetics[1].Recent researches on polymorphic STRs have led to their applications to population genetics,forensic DNA database,human individual identification,paternity testing,genetic mapping,disease linkage analysis,archaeology and potential inference of the ethnic origin of an individual[2].