Investigating the correlation between MTDH/AEG-1 gene 5'-UTR polymorphism and genetic susceptibility to sporadic colorectal cancer

AIM: To assess the correlation between MTDH/AEG-1 gene 5'-UTR polymorphism and genetic susceptibility to sporadic colorectal cancer (CRC) in southern Chinese population by TaqMan-MGB fluorescence probes. METHODS: A case-control study was carried out on southern Chinese population to collect blood DNA samples (693 sporadic CRCs and 660 controls respectively) to investigate MTDH/AEG-1 gene 5'-UTR polymorphism by TaqMan-MGB probes. RESULTS: The distribution of MTDH/AEG-1 5'-UTR genotypes (-1 913C/G,-797G/A) had no significance between CRCs and controls. But GG genotype of -1 913C/G could increase the susceptibility of CRC in drinker(OR=1.71,95%CI=1.13-2.57) and female(OR=1.48, 95%CI= 1.01-2.17), -1 913GG had interaction with drinking and female gender to increase the risk of CRC( P<0.01); Mutated genotypes of -797(GA+AA) also could increase the susceptibility of CRC in drinker (OR=1.55,95%CI= 1.06-2.27) and person with family history of cancer(OR=3.48,95%CI= 1.60-7.57), -797(GA+AA) had interaction with drinking and positive family history of cancer to increase the risk of CRC( P<0.01). But both polymorphisms were not interacted with age, smoking and fatness. CONCLUSION: MTDH/AEG-1 gene 5'-UTR polymorphism has no significant relevance with sporadic CRC susceptibility, but is irrelevant with drinking, gender and family history of cancer to increase the risk of CRC.     

Association between ERK5 -322G/T polymorphism and genetic susceptibility to sporadic colorectal cancer

AIM: To investigate the correlation between extracellular signal-regulated kinase 5 ( ERK5 ) -322G/T polymorphism (rs3866958) and the susceptibility to sporadic colorectal cancer (CRC) in southern Chinese population. METHODS: ERK5 -322G/T genotypes were determined by Taqman-MGB probes in 835 CRC cases and 908 healthy controls. RESULTS: No significance of ERK5 -322G/T genotype distribution between CRC patients and controls was observed, but -322G/T decreased the susceptibility to CRC in fat people whose BMI was ≥ 24 kg/m². Compared to GG genotypes, the carriers with GT and TT genotypes had a significant decrease in the risk of CRC(OR=0.576,95%CI 0.413-0.804, P<0.01). CONCLUSION: ERK5 -322G/T polymorphism (rs3866958) has no significant relevance with sporadic CRC susceptibility, but decrease, the risk of CRC in people with fatness. The T variant genotype is an independent protective factor against sporadic CRC of overweight patients in southern Chinese population.     

Expression of IL-1α and TNF-α modified by Toll-like receptor 4 genetic polymorphism is associated with colorectal carcinoma

AIM: To investigate the association of D299G, T399I and A896G polymorphisms of Toll-like receptor 4 (TLR4) and colorectal carcinoma (CRC). METHODS:
The genotypes of these 3 loci among 268 patients with CRC and 268 healthy controls were determined by polymerase chain reaction-restriction fragment lengthy polymorphism (PCR-RFLP). The protein levels of IL-1α, IL-8, TGF-β and TNF-α in the homogenate of CRC biopsies were measured by enzyme-linked immunosorbent assay (ELISA). RESULTS: No significant difference of the genotype frequencies of TLR4 A896G and D299G between the cases and the controls was observed. CT combined TT genotype of T399I was significantly associated with increased CRC risk. The individuals with the T allele of T399I showed a 1.843-fold increase in CRC risk as compared with the C allele. The concentrations of IL-1α and TNF-α in CRC biopsies were significantly elevated in the individuals with the genotype of T399I CT combined with TT as compared with the genotype of CC. CONCLUSION: TLR4 T399I promotes the development of CRC by modifying the expression of IL-1α and TNF-α in CRC tissues.     

Association of Pro12Ala polymorphism in the peroxisome proliferator-activated receptor-gamma2 with gastric cancers in China

AIM: To study the relationship among peroxisome proliferator-activated receptor-gamma2 (PPAR γ2) gene Pro12Ala polymorphism, Helicobacter pylori (H. pylori) infection, and gastric cancer in China.METHODS: 104 consecutive patients with gastric cancer and 104 age-and sex-matched controls from Guangdong Province of southern China were examined. PPARγ2 Pro12Ala polymorphism was analyzed by PCR-restriction fragment length polymorphism method (PCR-RFLP). H. pylori status of subjects was determined by enzyme-linked immunosorbent assay (ELISA) for anti-H. pylori IgG. RESULTS: The prevalence of H. pylori infection was significantly higher in gastric cancer patients than that in control (81.7% vs 59.6%, 2=12.27, P<0.01; OR=3.0, 95% CI=1.6-5.7). The CC, CG and GG genotype frequency of PPARγ2 gene in Chinese common people was 91.3%, 8.7%, 0 and the G allele frequency was 4.3%. The frequency of PPARγ2 G (Ala12) allele was significantly higher among patients with gastric cancer (19.2%) than that in control subjects (8.7%; P<0.05, OR=2.5, 95% CI=1.1-5.8). Moreover, the combination of PPARγ2 G allele and H. pylori infection substantially increased the risk of gastric cancer (P<0.01, OR=8.9, 95% CI=2.2-35.7). CONCLUSION: PPARγ2 G allele is associated with gastric cancer in China. The risk of developing gastric cancer is significantly increased in the PPARγ2 G allele carriers with H. pylori infection.     

Relationship between apolipoprotein E gene polymorphism and sporadic Alzheimer's disease

AIM: To evaluate the association between apolipoprotein E(apoE) gene polymorphism and sporadic Alzheimer's disease (AD). METHOD: A case-control study was undertaken detecting the polymorphism of apoE by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP).RESULTS:(1)The frequencies of 3/4 genotype and 4 al ele in AD were significant ly higher than that in age-matched controls(P<0.05).(2)The frequency of G/G genotype for apoE IE1 in AD was significantly higher than that in age-mat ched control(P<0.05).(3)The apoE 4 al ele was associated with a tripling of the risk for AD compared with no 4 allele(odd ratio 2.932, 95%CI 1.379~6.226);Homozygosity of the G allele in IE1 was associated with adoubling of the risk for AD compared with the G/C and C/C genotypes(odd rat io 2.223, 95%CI 1.075~4.599).However, the IE1 G al ele is also closely associated with apoE 4.When the sample was split on the basis of apo Egenotype, the associat ion between IE1 G/G genotype and AD was no longer statistically significant.CONCLUSION: ApoE ε4 was a risk factor of AD, and the apparent association between IE1 G/G and AD is a consequence of the association between the ε4 and IE1 G/G genotype.     

Genetic variants of IL-33 are associated with clinical phenotypes of inflammatory bowel disease in Han population of southern China

AIM：To investigate whether the single nucleotide polymorphisms (SNPs) of interleukin-33 (IL-33) gene are associated with inflammatory bowel disease (IBD) in the Han population of southern China. METHODS：Eight tag-SNPs were selected from the IL-33 gene using the HapMap database. These tag-SNPs were genotyped in 250 Crohn disease (CD) patients, 115 ulcerative colitis (UC) cases and 622 healthy controls by MALDI-TOF MS assay. RESULTS：No difference of the distribution frequencies of genotypes and alleles between the cases and the controls was observed (P>0.05). Genotype-phenotype analysis suggested that several sites were associated with clinical phenotypes of CD.The T allele of SNP rs10118795 was a protective factor for extra-intestinal manifestation (EIM; P<0.05, OR=0.513, 95% CI： 0.281~0.938), while the CC genotype of SNP rs7025417 (P<0.05, OR=1.363, 95% CI： 1.006~1.846) was a risk factor for EIM. The C allele of rs10118795 decreased the risk for developing perianal lesions (P<0.05, OR=0.480, 95% CI： 0.232~0.994), while the CC genotype of rs10975519 was a risk factor for perianal lesions (P<0.05, OR=2.054, 95% CI： 1.053~4.009). The G allele of rs10975509 increased the risk of upper gastrointestinal CD (P<0.05, OR=3.570, 95% CI： 1.328～9.600), and the A allele of it increased the risk for developing ileocolonic CD (P<0.05, OR=0.613, 95% CI： 0.377~0.996). In the aspect of treatment, the genotypes of rs10118795, rs10975509 and rs7025417 were associated with mucosal healing after infliximab treatment for 30 weeks (P<0.05, P<0.01 and P<0.05). In the UC patients, no significant effect of the selected 8 tag-SNPs on the UC phenotypes was observed. CONCLUSION：Eight polymorphisms of IL-33 do not increase the risk of CD and UC in the Han population of southern China, but some of them have an effect on the clinical phenotypes of CD, and 3 SNPs may be potential markers for prediction of effectiveness of infliximab treatment.     

Family-based transmission disequilibrium association study on TGFβ1 -509C/T polymorphism and IgA nephropathy

AIM: To investigate the relationship between transforming groupth factor beta 1 (TGFβ1)-509C/T polymorphism and IgA nephropathy using family-based analysis of transmission disequilibrium test and haplotype relative risk. METHODS: The genotypes of TGFβ1 -509C/T were determined by PCR-RFLP and direct sequencing. Two family-based designs, transmission disequilibrium test (TDT) and haplotype-based haplotype relative risk (HRR) were employed for the data analysis. The patients were followed up and clinical data retrieved and compared. RESULTS: ① No transmission disequilibrium was found from heterozygous parents onto patients in our 106 trios analyzed by TDT （χ2=0.559, P>0.05）. ② No increased risks of contracting the disease oweing to-509C/T polymorphism of TGFβ1 in our 130 trios analyzed by either genotype-based HRR or haplotype-based HRR （χ2=0.667, P>0.05; χ2=0.650, P>0.05, HRR=0.878）. ③ 296 cases of IgA nephropathy were tracked for nearly two years, the results showed that the CC genotype frequency was very significantly higher in patients with renal function deterioration ［χ2 (CC/others)=10.402, P<0.01, OR=2.900］. CONCLUSION: TGFβ1-509 CC genotype may be associated with progression of IgA nephropathy, but the -509C/T polymorphism is not associated with susceptibility to this disease in Chinese Han population.     

Association between IL-6-572C/G as well as IFNAR1-168G/C and hepatitis B virus infection in populations of Dai and Han ethnicities in Yunnan Province

ATM: To explore the association between IL-6-572C/G (rs1800796) as well as interferon alpha receptor 1 (IFNAR1)-168G/C (rs2257167) and prognosis after hepatitis B virus (HBV) infection in populations of Dai and Han ethnicities in Yunnan Province. METHODS: The blood samples were collected from Dai people and Han people, each nation including 100 healthy controls and 200 infected individuals (100 spontaneous recovery individuals and 100 chronic patients). Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing were used to identify the gene type. RESULTS: In Dai people, no significant difference was found between genetic polymorphism of -572C/G and prognosis after HBV infection. The differences of C and G alleles between spontaneous recovery group and chronic hepatitis B group, and healthy controls and HBV infection group were not statistically significant. Meanwhile, GG and CG genotypes were a vital protective factor for the person who developed into a chronic heptatitis B patient under the G allele dominance mode (GG+CG/CC) (P<0.05). In Han people, no statistically significance for IL-6-572C/G genotype and allele distribution in each group comparisons had been found, as well as the C allele recessive mode and C allele dominance mode. For the above 4 indicators, no statistically significant difference of IFNAR1-168C/G in Dai and Han people had been found.CONCLUSION: The GG+CG genotype of IL-6-572C/G may be a protective factor for the HBV-infected Dai people to develop into chronic hepatitis B patients. However, there is no significant association between the IFNAR1-168G/C polymorphism and prognosis after HBV infection in the 2 ethnicities.     

Distribution characteristics of polymorphisms of interleukin-22 gene in Guangxi population and their association with serum lipid levels

AIM: To investigate the distribution characteristics of interleukin-22 (IL-22) gene rs2227485C/T and rs2227491A/G polymorphisms in Guangxi people and the distribution differences with other ethnic groups, and to explore the difference levels of common lipid indexes in different genotypes. METHODS: SNaPshot technique and DNA sequencing were used in 280 Guangxi persons to examine IL-22 genotypes and to analyzed the distribution frequencies of allele and genotype in these sites. The distribution frequencies in different sexes, and the differences between groups and diffe-rence levels of common lipid indexes in different genotypes were analyzed statistically. RESULTS: Three genotypes of CC, CT and TT were found in rs2227485C/T with the frequency distribution of 17.1%, 49.3% and 33.6%, respectively. No significant difference between different sexes of each genotype and allele frequency in the Guangxi population was observed (P>0.05). Compared with the distribution frequencies of genotype and allele in HapMap-TSI, HapMap-HCB, HapMap-JPT and HapMap-MEX, those in Guangxi population showed statistically significant differences (P<0.05). Three genotypes of AA, AG and GG were found in rs2227491A/G with the frequency distribution of 16.1%, 52.8% and 31.1%, respectively. There was no significant difference between different sexes of each genotype and allele frequency in the Guangxi population (P>0.05). The significant differences of genotype frequencies among Guangxi population, HapMap-TSI, HapMap-JPT and HapMap-MEX were detected (P<0.05). Compared with the other 4 populations, allele frequencies in Guangxi population had significant difference (P <0.05). There were significant differences in the levels of HDL-C and LDL-C among the 3 genotypes of rs2227491A/G. The level of HDL-C had difference between AG/AA genotype and GG genotype. In addition, the level of LDL-C had difference between AG/GG genotype and AA genotype (P<0.05). CONCLUSION: rs2227485C/T and rs2227491A/G polymorphisms of IL-22 gene have differences in different populations. The rs2227491A/G polymorphism may be associated with serum lipid levels.     

Genetic polymorphisms of RTN4 gene in Chinese Guangxi population

AIM: To investigate the distribution characteristics of rs2920891A/C and rs17046647A/G polymorphisms of RTN4 gene in Guangxi population, and to compare the differences among different populations. METHODS: The genotypes of RTN4 gene at rs2920891A/C and rs17046647A/G in 323 healthy persons of Guangxi were performed by the technique of SNaPshot and DNA sequencing. The results were compared with the alleles and genotypes of other populations (HapMap-CEU, HapMap-HCB, HapMap-JPT and HapMap-YRI in HapMap). RESULTS: In Guangxi population, 3 genotypes, AA, AC and CC, and 2 alleles, A and C, were found in rs2920891A/C. The allele frequencies between male and female showed significant differences (P<0.05). The genotype and allele frequencies compared with HapMap-JPT, HapMap-CEU and HapMap-YRI had differences with statistical significance (P<0.05). Three genotypes, AA, AG and GG, and 2 alleles, A and G, were found in rs17046647A/G. The genotype and allele frequencies between male and female showed no significant differences (P>0.05), but there were significant differences of the genotype and allele frequencies as compared with HapMap-JPT, HapMap-CEU and HapMap-YRI (P<0.01).CONCLUSION: The rs2920891A/C and rs17046647A/G polymorphisms of RTN4 gene in Chinese Guangxi population are different from those in other races.     

Relationship between matrix metalloproteinase 2-735C→T genetic polymorphism in promoter region and coronary atherosclerosis

AIM: To investigate the relationship between matrix metalloproteinase 2 ( MMP-2 )-735C→T polymorphism in the promoter region and coronary atherosclerosis (CAS) in Han population of China. METHODS: This study was conducted with a CAS group including 309 patients confirmed by angiography and 311 control healthy subjects. Genotype of -735C→T functional promoter polymorphism of the MMP-2 gene was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The relationship between the polymorphism in MMP-2 gene and CAS was analyzed. RESULTS: The frequency of CC genotype (86.1%) in CAS group was significantly higher than that in control group (79.7%), but the frequency of CT+TT genotype (13.9%) in CAS group was significantly lower than that in control group (20.3%). The statistical difference between CAS group and controls was significant(χ²=4.398,P<0.05). The frequency of -735C in CAS group (92.6%) was higher than that in control group (89.1%) and the frequency of -735T in CAS group (7.4%) was lower than that in control group (10.9%), with the statistical significant difference (χ²=4.521, P<0.05). The degree of stenosis in coronary artery did not significantly relate to the MMP-2 gene -735C→T polymorphism in the promoter region. CONCLUSION: The genetic polymorphism in MMP-2 promoter region (-735C→T) is associated with the susceptibility to CAS in Han population of China. CC genotype and C allele may be a genetic marker. The -735C→T polymorphism may be useful as a predictor of CAS.     

Association of IFN-γ and IL-4 gene polymorphisms with childhood bronchial asthmatic susceptibility and the levels of plasma IFN-γ,IL-4 and IgE

AIM: To investigate the gene polymorphisms of interferon-γ(IFN-γ) and interleukin-4(IL-4) and the association with asthmatic susceptibility and the levels of plasma IFN-γ, IL-4 and IgE of asthmatic children. METHODS: 100 asthmatic children and 122 control children were enrolled the study. The genotypes of IFN-γ gene-179G/T polymorphism, IL-4 gene-33C/T and-589C/T polymorphisms were tested by PCR-RFLP.The genotype of IFN-γ gene +874A/T polymorphism was tested by AS-PCR.The CA repeat polymorphism of IFN-γ gene was detected by capillary electrophoresis technique.The levels of serum IFN-γ, IL-4 and IgE were measured by ELISA. RESULTS: 100 asthmatic children and 122 control children were all GG homozygotes at -179 locus of IFN-γ gene.-179 locus of IFN-γ gene has no mutation. The genotypes and allele frequency of IFN-γ gene +874A/T and CA repeat polymorphisms showed no significant difference between asthmatic children and the control(P>0.05). An association was revealed between IFN-γ gene +874A/T polymorphism and the level of plasma IFN-γ.The level of IFN-γ was lower in AA genotype than in AT genotype(P<0.05). The genotypes and allele frequency of IL-4 gene -33C/T and -589C/T polymorphisms showed significant difference between asthmatic children and the control(P<0.05).The levels of plasma IL-4 and IgE were higher in TT genotype at -33 locus and -589 locus than those in CT genotype, but only -33C/T polymorphism was associated with the level of plasma IL-4(P<0.05). CONCLUSION: The IFN-γ gene +874A/T and CA repeat polymorphisms were not correlated with asthmatic susceptibility, but there is significant correlation between the level of IFN-γ and +874A/T polymorphism. TT genotype of IL-4 gene -33 locus and -589 locus maybe the susceptible genotype of asthma in children, and the -33 locus polymorphism is associated with the level of IL-4.     

Expression of glypican-3 in hepatocellular carcinoma and its clinical significance

AIM: To study the expression of glypican-3 in hepatocellular carcinoma (HCC) tissues and to clarify its clinical significance. METHODS: The expression of GPC3 was detected in 59 cases of HCC and their para-cancerous tissues, 10 cases of intrahepatic cholangiocellular carcinoma (ICC), 11 cases of cirrhotic tissues and 14 cases of normal liver tissues (around haemangioma) by RT-PCR and immunohistochemical staining. The survival curves were constructed using Kaplan-Meier method and evaluated using the log-rank test. In addition, the Cox proportional hazards regression model was established to identify the factors that were independently associated with disease-free survival (DFS). RESULTS: The mRNA expression of GPC3 in the HCC tissues was significantly higher than that in the para-cancerous tissues (83.1% vs 35.6%, χ²=27.53, P<0.01). The protein expression of GPC3 in the HCC tissue was also higher than that in the para-cancerous tissues (78.0% vs 33.2%, χ²=24.97, P<0.01). The expression of GPC3 in ICC tissues, liver cirrhosis tissues and normal liver tissues was undetectable. Kaplan-Meier survival analysis indicated that the GPC3(+)HCC patients had worse 1-year DFS than that of GPC3(-) patients (33.6% vs 72.7%, P<0.05). The HCC patients with para-cancerous GPC3(+) also had worse 1-year DFS than that of the para-cancerous GPC3(-) patients (23.5% vs 40.1%, P<0.05). The DFS rate decreased significantly as the expression intensity of GPC3 increased. The Cox regression model analysis indicated that AFP(+) (odd ratio=0.372, 95% confidence interval: 0.140-0.900, P<0.05), tumor size (odd ratio=5.215, 95% confidence interval: 1.737-15.656, P<0.01), para-cancerous tissue GPC3(+) (odd ratio=0.226, 95% confidence interval: 0.085-0.599, P<0.01) and the intensity of GPC3 expression in HCC tissue (odd ratio=1.946, 95% confidence interval: 1.080-3.507, P<0.05) were the independent risk factors linked to DFS of patients. CONCLUSION: GPC3 protein is highly expressed in the HCC tissues,but not in ICC, cirrhotic liver and normal liver tissues. The expression of GPC3 in para-cancerous tissues and the intensity of GPC3 expression in HCC tissues are the important independent risk factors linked to DFS of patients.     

Association of polymorphism of Fc receptor γ chain gene at position-29 in promoter with the susceptibility to systemic lupus erythematosus in southern Chinese

AIM:To detect the association between the polymorphism of Fc receptor γ chain gene at position-29 in promoter and systemic lupus erythematosus(SLE).METHODS:The genotypes at position -29 in promoter of Fc receptor γ chain gene were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in 180 patients with SLE and 140 ethnically matched controls in southern China.RESULTS:The frequencies of TT genotype(33.3%) and T allele (54.4%) at position -29 in patients with SLE were significantly higher than those in controls (17.2% and 42.9%, respectively), whereas, the frequencies of GG genotype (24.4%) and G allele (45.6%) in patients with SLE were remarkably lower than those in controls (31.4% and 57.1%, respectively) (P＜0.05). The TT genotype and T allele at position -29 were not associated with lupus nephritis in SLE patients (P＞0.05).CONCLUSION:Our results indicate that the T allele at position -29 in promoter of Fc receptor gene probably contributes to the susceptibility to SLE, but does not play a role in the occurrence of lupus nephritis.     

Genetic polymorphism of caspase-7 isoform β in patients with rheumatoid arthritis

AIM: To investigate the association between the rs2227309 polymorphism of cysteinyl aspartate-specific protease-7 (caspase-7) isoform β and the genetic susceptibility in rheumatoid arthritis (RA) patients in Taizhou of China. METHODS: Genotyping of rs2227309 of caspase-7 isoform β gene was performed in 204 RA patients and 203 matched healthy controls using TaqMan single nucleotide polymorphism (SNP) genotyping assays. RESULTS: The genotype frequencies of GG, AG and AA of caspase-7 polymorphism in the RA patients were 33.3%, 53.4% and 13.2%, respectively, and 33.0%, 44.3% and 22.7% in the healthy individuals,respectively. There was a significant difference in caspase-7 genotype frequencies between the RA patients and healthy controls (P<0.05). The frequency of GG+AG genotype in RA patients was higher than that in healthy controls with significant difference (P<0.05, OR=1.921, 95%CI: 1.140~3.236). The frequencies of the G allele were 60.0% and 55.2% in the RA patients and the healthy individuals,respectively. No significant difference was observed in allele frequency between the RA patients and healthy controls (P>0.05, OR=1.221, 95%CI: 0.924~1.613). CONCLUSION: The rs2227309 polymorphism of caspase-7 isoform β gene is associated with the susceptibility to rheumatoid arthritis. The high production of the non-functional variant of caspase-7 may reduce the apoptosis of rheumatoid synovial cells, indicating the mechanism of this association.     

Role of multidrug resistance gene 1 polymorphism in prognosis of hepatocellular carcinoma patients treated with liver transplantation

AIM: To evaluate the relationship between three multidrug resistance gene 1 (MDR1) polymorphisms (C1236T, G2677A/T, C3435T) and the prognosis of hepatocellular carcinoma (HCC) in Chinese liver transplantation (LT) patients.METHODS: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was applied to determine the genotypes of MDR1 gene in 50 HCC patients treated with LT. The tumor-free survival and overall survival were compared among these patients according to the polymorphisms of MDR1 by Kaplan-Meier method, multivariate regression analysis was also performed.RESULTS: No significant association was found between C1236T, G2677T, C3435T and prognosis of these patients. But interestingly, 2677A carrier group had significantly higher tumor-free survival rate than 2677A noncarrier group (P<0.05). The multivariate regression analysis revealed that 2677A carrier genotype was one of the independent factors for predicting tumor-free survival (RR=0.143, P<0.01).CONCLUSION: MDR1 2677A carrier genotype is correlated with the tumor-free survival. MDR1 2677A carrier genotype may be a useful independent prognostic factor in HCC patients treated with LT.     

Association of coagulation factor Ⅻ gene C46T polymorphism and coronary artery disease in patients documented angiography

AIM: To study the distribution of C46T polymorphism of factor Ⅻ(FⅫ) in Chinese Han population and the association of the polymorphism with coronary artery disease(CAD) and acute coronary syndrome(ACS). METHODS: Selected coronary angiography was performed in 168 CAD patients and 210 controls. Genetype of FⅫ was typed by mutagenically separated polymerase chain reaction assay(MSPCR). RESULTS: FⅫ allelic frequencies of C and T were 29.8%, 70.2% and 31.4%, 68.6% in CAD and controls, respectively(P>0.05). Genetype distribution was in accordance with Hardy-Weinberg equilibrium. The frequency of CC, CT, TT in CAD and control was 8.7%, 40.5%, 50.0% and 5.2%, 52.6%, 42.2%. The association between FⅫ genetype and CAD(2=6.393, P<0.05) was observed. As compared with the CC group, the CT genetype was a protective factor for CAD(OR 0.43, 95% CI 0.19-0.97). When compared to stable coronary artery disease, the frequency of TT genetype is significant less in ACS group(45.0% vs 62.5%, 2=4.200, P<0.05). The distribution of genetype in C46T was no significant difference among the numbers of stenosed coronary artery. CONCLUSION: The C46T polymorphism of FⅫ is association with CAD in Chinese Han population. The C→T mutation may be a protective factor against CAD and ACS.     

Correlation of adiponectin gene SNP+45 T/G polymorphism with coronary heart disease

AIM: To investigate the relationship between adiponectin gene SNP+45 polymorphism and coronary heart disease (CHD) in south China Han population. METHODS: The nondiabetic CHD patients diagnosed by the coronary angiography were selected as CHD subjects (153 cases), and 73 healthy adults served as normal control subjects. The polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) was performed to identify the distribution pattern of adiponectin gene SNP+45 in all subjects. The levels of plasma adiponectin were measured by ELISA. RESULTS: The frequency of T/G + G/G genotype and G allele in CHD patients were significantly higher than those in control subjects (P<0.05). Logistic regression analysis revealed that the adiponectin gene SNP+45 T/G+G/G genotype had a strong positive association with CHD (OR: 2.132, 95.0% CI: 1.034-4.397, P＜0.05). The plasma adiponectin was negatively associated with CHD (OR: 0.868, 95.0% CI: 0.785-0.959, P<0.05). CONCLUSION: The T/G+ G/G genotype was a possible risk factor for CHD in southern China Han population.     

Relationship between TNF-α gene polymorphism-308 and type 2 diabetes with periodontitis

AIM: To investigate the gene polymorphism-308 of tumor necrosis factor alpha (TNF-α) in the relation with the susceptibility to periodontitis combined with type 2 diabetes mellitus (DM) and its severity.METHODS: Human DNA samples were obtained from 240 DM patients with periodontitis (periodontitis group, n=120) and without periodontitis (control group, n=120). All patients were genotyped by PCR-RFLP analysis. The frequencies of genotypes and alleles were analyzed. Sulcus bleeding index (SBI) and probing depth (PD) in all patients were measured. The polymorphism-308 of TNF-α gene in the relation with the susceptibility to periodontitis combined with DM and its severity was analyzed.RESULTS: No significant difference in the frequency of genotype and allele was found between DM patients with mild periodontitis and DM patients without periodontitis (P>0.05). However, the frequencies of these genotypes and alleles in DM patients with moderate and severe periodontitis were significantly higher than those in DM patients without periodontitis (P<0.01). The findings showed that the level of TNF-α was associated with SBI and PD (P<0.01).CONCLUSION: TNF-α -308 G/A polymorphism is not associated with DM patients with mild periodontitis, whereas it may have a role in pathogenesis and prognosis of moderate and severe periodontitis combined with DM through TNF-α level.