Association between platelet membrane glycoprotein IIb polymorphism and coronary heart disease in Han people

AIM: To investigate the genotype distributions of HPA-3 in Han people from Beijing and Hebei province, and to study the association of the platelet glycoprotein IIb polymorphism with coronary heart disease (CHD).METHODS: Two hundred and twelve patients with coronary heart disease and 106 healthy controls were enrolled in this case-control study. The number of occlusive coronary artery was performed in all subjects. The genotypes of HPA-3 were determined by TaqMan probe technology. RESULTS: In CHD patients (older than 45 years) carriers of HPA-3b were over- represented compared with healthy controls (P<0.05). The prevalence of HPA-3 genetic variants had no difference in CHD patients of different numbers of occlusive coronary artery. Results were statistically evaluated with Binary Logistic regression, which showed the HPA-3 polymorphism was associated with an increased risk for CHD(OR: 2.105).CONCLUSION: The HPA-3 polymorphism of GP IIb is the risk factor of CHD in Han people, especially in patients older than 45 years.     

Correlation between DDAH2 gene polymorphism and coronary heart disease

AIM: To investigate the relationship between single nucleotide polymorphism (SNP) of dimethylarginine dimethylamino acid hydrolase (DDAH) gene and coronary heart disease (CHD) in Chinese population. METHODS: The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and ligase detection reaction (LDR) were used to detect the genotypes of SNP rs805305 and rs2272592 in 192 controls and 165 patients with coronary heart disease (CHD). RESULTS: Both the frequency of rs805305 CG+GG or G allele and the frequency of rs2272592 GA+AA or A allele had no significant difference between CHD and control (P＞0.05). These results were independent of age, gender, hypertension, diabetes and hyperlipidemia. CONCLUSION: The rs805305 and rs2272592 polymorphism of DDAH2 gene might not be related to the coronary heart disease (CHD) in Chinese.     

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 OPG gene single nucleotide polymorphisms with susceptibility to rheumatoid arthritis in Chinese Han population

AIM：To investigate the association of osteoprotegerin (OPG) gene single nucleotide polymorphisms (SNPs), 163A/G (rs3102735) and 245T/G (rs3134069), with susceptibility to rheumatoid arthritis (RA) in Chinese Han population. METHODS：A total of 205 patients with RA and 171 healthy control subjects were enrolled into this study. Genotyping was performed by polymerase chain reaction-based restriction fragment length polymorphism and subsequently confirmed by DNA sequencing. Odds ratio (OR) and 95% confidence intervals (CI) were calculated for the risk genotypes and alleles. RESULTS：OPG gene polymorphisms 163A/G and 245T/G were conformed to the Hardy-Weinberg equilibrium. The statistical differences in the genotypes of AA, AG and GG at 163A/G locus were found in RA and controls. The G allele was associated with an increased risk of RA, with OR of 1.219 (95％ CI: 1.066~2.339). No significant difference was observed between RA group and control group with respect to genotypic and allelic frequencies of OPG gene 245T/G (P>0.05）. CONCLUSION：The OPG gene 163A/G SNP may be associated with RA susceptibility, and G allele may be the risk factor for developing RA.     

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.     

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.     

Association of F XⅢVal34Leu with coronary heart disease

AIM: To investigate the distribution of coagulation factor XⅢ (FXⅢ) Val34Leu polymorphism in Chinese and the relationship between the polymorphism and coronary heart disease (CHD) or myocardial infarction. METHODS: A total of 195 patients with angiographically confirmed CHD and 203 controls were genotyped for the Val34Leu polymorphism by polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) analysis. RESULTS: The FXⅢ Val34Leu was found in 19 out of all 398 samples (4.8%) representing a Leu allele frequency of 2.4%. The distribution of FXⅢ genotype and allele was not significantly different between all patients and controls (P>0.05). The Val/Leu genotype and Leu allele frequencies in subjects without MI were significantly higher than that in subjects with MI (P<0.05). CONCLUSION: There is F XⅢ Val34Leu polymorphism in Han ethnic group.     

Relationship between 936C/T polymorphism in 3’-untranslated region of vascular endothelial growth factor gene and diabetic retinopathy in China

AIM: To study the distribution of 936C/T polymorphism in 3’- untranslated region of vascular endothelial growth factor (VEGF) gene in Chinese Han population and to analyze the relationship between the polymorphism and diabetic retinopathy (DR). METHODS: Two hundred and fifty-four patients with type 2 diabetes mellitus recruited in this study were divided into NPDR group (non-proliferative diabetic retinopathy), PDR group (proliferative diabetic retinopathy) and DM (diabetes without retinopathy) group. The normal control group consisted of 120 subjects. Genotypes were identified by PCR-RFLP among all the subjects, while other clinical parameters were measured. Serum levels of VEGF were tested by the method of ELISA. RESULTS: The frequencies of both genotype CC and allele C were significantly higher in NPDR group and PDR group than those in NC group (²=9.934, ²=4.899, P<0.05 and ²=10.895, ²=5.714, P<0.05) and DM group (²=7.490, ²=4.448, P<0.05 and ²=8.333, ²=5.227, P<0.05). However, the frequencies of genotype (TT+CT) and allele T were significantly lower in NPDR group and PDR group than those in NC group (²=9.934, ²=10.895, P<0.01 and ²=4.899, ²=5.714, P<0.05) and DM group (²=7.490, ²=8.333, P<0.01 and ²=4.448, ²=5.227, P<0.05). Multivariate logistic regression analysis showed that the levels of glycohemoglobin(HbA1c), total cholesterol(TC),low-density lipoprotein cholesterol(LDL-C) and plasma VEGF presented a positive correlation with DR, respectively, and the 936C/T mutation of VEGF exhibited a negative correlation with DR (β=-1.027, OR=0.343, P<0.01, CI: 0.157-0.723). CONCLUSION: Allele 936C of VEGF may be a genetic marker susceptible to DR, while allele 936T may be a protective genetic marker of DR. The 936C/T mutation of VEGF may be a protective factor against DR.     

Association of endothelial lipase gene Thr111Ile and Gly26Ser polymorphism with lipoprotein in patients with coronary heart disease

AIM: To investigate the association of endothelial lipase gene (LIPG) Thr111Ile and Gly26Ser polymorphism with lipoprotein in patients with coronary heart disease (CHD) in Chinese.METHODS: 438 patients were classified as 242 CHD group and 196 controls group by selective coronary angiography.Plasma level of lipoprotein was determined and the Thr111Ile and Gly26Ser polymorphism was screened by PCR-RELP.RESULTS: The frequencies of Thr111Ile genotype in Chinese were CC 76.7%,CT 23.3％,TT 0.0％.The frequencies of allele were C 88.3％,T 11.7%.The plasma level of HDL-c in CT group was significantly higher than that in CC group (P<0.05) on logistic regression analysis.However,logistic regression analysis revealed that there was no significant difference between CHD group and control group for Thr111Ile polymorphism (P>0.05).No Gly26Ser mutation was observed in this study.CONCLUSION: The polymorphism of Thr111Ile is present in patients with CHD in Chinese,and T allele is related to high HDL-c level.There is no significant association between the polymorphism of Thr111Ile and CHD.The Gly26Ser mutation has not found in this study.     

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.     

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 SNP of TNFR gene and incidence/severity of pneumonia

AIM：To analyze the relationship between the single nucleotide polymorphism (SNP) of tumor necrosis factor receptor (TNFR) gene and the incidence and severity of pneumonia. METHODS：Total 132 Chinese individuals were enrolled in this study. There were 66 patients with pneumonia and 66 healthy subjects. The SNPs of TNFR gene including TNFR1+36A/G, TNFR1-609G/T, TNFR2+676T/G, TNFR2+1663T/G, TNFR2 +1668A/G and TNFR2 +1690C/T were genotyped by polymerase chain reaction-restriction fragment length polymorphism or gene sequencing for all subjects. Polymorphisms affecting pneumonia incidence and severity were calculated by SPSS. RESULTS：The frequencies of TNFR1-609G and T alleles in pneumonia patients were 40.9% and 59.1%, while those in healthy subjects were 53.8% and 46.2%. The frequency of TNFR1-609T in pneumonia patients was higher than that in healthy subjects (P<0.05). Besides, the frequencies of TNFR1-609G and T alleles in severe pneumonia patients were 25.0% and 75.0%, while those were 46.0% and 54.0% in non-severe pneumonia patients. The frequencies of TNFR2 +1690C and T alleles in severe pneumonia patients were 81.1% and 18.9%, while those were 61.0% and 39.0% in non-severe pneumonia patients. The frequencies of TNFR1-609T and TNFR2 +1690C in severity pneumonia subjects were higher than those in mild subjects (P<0.05). CONCLUSION：It appears that TNFR1-609T is associated with high incidence of pneumonia. TNFR1-609T and TNFR2+1690C are the risk factors of severity in pneumonia in Chinese.     

Relationship between blood pressure and fibrinogenic expression of fibrinogen Bβ-chain gene polymorphisms

AIM: To study the correlation between blood pressure and 6 common fibrinogen (Fg) Bβ-chain gene polymorphisms (Bβ-854G/A,-455G/A,-249C/T,-148C/T, 448G/A, Bcl-1G/A), and to investigate the effect of blood pressure on plasma fibrinogen concentration and the functional expression of fibrinogen. METHODS: 1 391 subjects from Kailuan Group Corporation were enrolled for medical examination and questionnaire survey. Venous blood were collected in the early morning to measure Fg concentration, fibrin monomer polymerized velocity (FMPV), absorbance maximum (A_max) and FMPV/A_max. The blood pressure was also measured and the subjects were accordingly divided into hypertension group (HG) and the normal blood pressure group (NG). The 6 gene polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: No differences of the genotype frequencies of the 6 sites between hypertension group (HG) and normal blood pressure group (NG) were found (P>0.05). No differences of Fg concentration and FMPV/A_max between HG group and NG group were observed (P>0.05). However, FMPV and A_max in HG group were lower than those in NG group (P<0.05). In HG and NG group, the Fg concentration, FMPV, A_max, FMPV/A_max in the subjects with Bβ-854 mutated genotype were all higher than those in the subjects with wild genotype (P<0.05). In NG group, the Fg concentration and FMPV in the subjects with Bβ Bcl-1 mutated genotype were higher than those in the subjects with wild genotype (P<0.05). Fg, FMPV and A_max in the subjects with Bβ-854 and Bcl-1 mutated genotype in HG group were lower than those in NG group (P<0.05). CONCLUSION: Fg Bβ-854 is one of the main gene situs of regulating the functional expression of fibrinogen. Bcl-1 mutated genotype increases plasma Fg concentration and FMPV. Hypertension decreases the effect of this regulation, and affects the process of fibrin monomer aggregation into dimer, resulting in a special type of coagulation dysfunction.     

Association analysis of FcεRⅠβ gene with allergic asthma in Chinese

AIM: To investigate the linkage between the polymorphism of -109 and Glu237 in the high-affinity IgE receptorβ(FcεRⅠβ) gene and susceptibilty of allergic asthma in adults in a Chinese population. METHODS: Allergic asthma sample in adult and age-and sex-matched control were studied. A-109C/T and a coding variant Glu237Gly in FcεRⅠβ were detected with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: (1)The genotype frequencies were 0.415 for -109T/T, 0.491 for-109T/C and 0.094 for -109C/C in allergic asthma in adults. No significant difference in the distribution of-109C/T polymorphism was found between allergic asthma adult subjects and healthy control subjects. However, a homozygosity for the-109T allele was associated with increased total plasma IgE levels in subjects with allergic asthma (F=7.213, P<0.01). (2)The allele frequency of Gly237 in the patients and control was 0.245 and 0.142, respectively. There was a significant association between Gly/Gly genotype and allergic asthma in adults among allergic asthma patients. Gly237 was significantly associated with high IgE. CONCLUSIONS: It suggests that Gly237 vaviant of the FcεRⅠβ gene is involved in the development of allergic asthma. The-109C/T and Glu237Gly polymorphisms are two of the genetic factors identified, which affects total plasma IgE levels in adult allergic asthma in Han of Hubei province.     

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.     

The association of paraoxonase 2 gene 311Cys/Ser polymorphism and type 2 diabetes mellitus complicated by coronary heart disease

AIM:To study the association of the human paraoxonase 2(PON2)311Cys/Ser polymorphism genotypes and coronary heart disease(CHD)in type 2 diabetes mellitus(type 2 DM)in Chinese subjects of north area. METHODS:PON2-311 cysteine(C type)/serine(S type)polymorphism was determined using PCR and restriction mapping with Dde Ⅰ,in 75 elder pat ients with type 2 DM,39 with CHD,36 without CHD,and 38 normal elder controls.RESULTS:There was significant difference in frequencies of genotypes between CHD in type 2 DM group and normal control group(P<0.05).S allele frequencies of PON2-311Cys/Ser polymorphism in CHD in type 2 DM group were higher than that in control groups.The S allele of PON2-311Cys/Ser was a risk for developing CHD in type 2 DM(OR=2.09,95%CI:1.04-4.22,P<0.05).CONCLUSION:The S allele of PON2-311Cys/Ser polymorphism is associated with CHD in type 2 DM.The dif erence of PON2-311Cys/Ser among various races was observed.     

Study on the association of the polymorphism at the position -418A/G and -384C/T in the Apo(a) promoter

AIM: To investigate two single nucleotide polymorphisms (SNP) in the apolipoprotein(a) promoter at positions -418 and -384 and to compare distributing difference of genotype frequencies of single nucleotide among different races and to explore the influencies of them on serum lipid level and their association with coronary heart disease (CHD). METHODS: Using PCR-RFLP (BsgI,BfaI) method, we determined genotypes of these two SNPs in 156 unrelated healthy controls of HanZu Chinese and 56 unrelated CHD patients of HanZu Chinese and 56 unrelated African Blacks, then cloned polymerase chain reaction (PCR) products into T-vector and sequenced it by M13 currency primer, correspondingly. RESULTS: (1) There was no polymorphism at position -418A/A and -384C/C in control group. Only one CHD patient's genotype determined was -418G/G, other were -418A/A and -384C/C in CHD patients. (2) Only two African Blacks' genotype determined was -418G/G, other were -418A/A and -384C/C in African Blacks. (3) However, the Apo(a) promoter sequence was in coincident with the sequence publicized in GenBank and the base at positions -418 was adenine (A) and -384 was cytosine (C). CONCLUSION: The mutation frequencies at position -418 and -384 were low in the Chinese Han Population of Hubei and perhaps no single nucleotide polymorphisms was at two positions. No association with serum lipid levels and CHD was observed. There were great variabilities to the SNPs in the Apo(a) promoter among different races.     

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 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.