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.     

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.     

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.     

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.     

Relationships between lncRNA HOTAIR/H19 SNPs and genetic susceptibility to gastric carcinoma/EBV-related gastric carcinoma

AIM To investigate the potential associations between the single nucleotide polymorphisms （SNPs） of long noncoding RNA （lncRNA） H19/HOTAIR and the susceptibility to gastric carcinoma, especially to Epstein-Barr virus （EBV）-associated gastric carcinoma （EBVaGC）. METHODS Peripheral blood samples from 65 cases of EBV-negative gastric carcinoma （EBVnGC）, 50 cases of EBVaGC and 115 cases of healthy people were collected. A total of 4 TagSNPs, H19 rs3024270 and rs3741219, as well as HOTAIR rs4759314 and rs874945, were selected. The Taq-Man MGB allele typing kit was used to detect the genotype of each SNP locus, and the experimental results were statistically analyzed. RESULTS （1） There were significant differences of both genotypic and allelic frequencies at H19 rs3024270 locus between gastric carcinoma group and control group （P<0.05）. Individuals carrying the G allele at H19 rs3024270 locus had significantly low risk of gastric carcinoma （P<0.01）, indicating that the G allele was protective. （2） People with the GG genotype at HOTAIR rs4759314 locus had significantly high risk of gastric carcinoma （P<0.05）. Carrying the G allele increased the risk of gastric carcinoma, which indicated that the risk gene for gastric carcinoma might be the G allele. （3） No significant difference of the genotypic and allelic frequencies at H19 rs3741219 and HOTAIR rs874945 loci between gastric carcinoma group and control group was observed （P>0.05）.（4） The G allele frequency at HOTAIR rs4759314 locus in EBVaGC group was significantly higher than that in EBVnGC group. However, no difference of the other 3 SNPs was found between EBVaGC group and EBVnGC group （P>0.05）. CONCLUSION The SNPs at H19 rs3024270 and HOTAIR rs4759314 loci are related to the risk of gastric carcinoma, but not significantly related to the risk of EBVaGC.     

Association of S100B polymorphisms with systemic lupus erythematosus in Guangxi population

AIM: To explore the association of rs9984765, rs2839356 and rs2186358 polymorphisms in S100B gene with the susceptibility to systemic lupus erythematosus (SLE). METHODS: SLE patients (n=313) and age-and sex-matched healthy controls (n=396) were recruited in this study. The genotypes of the 3 sites were determined by single-base extension PCR (SBE-PCR) and DNA sequencing. RESULTS: No difference between the SLE patients and controls in the genotype and allele frequencies of rs9984765 and rs2186358 was observed. However, the frequency distribution of rs2839356 C allele was significantly different in the 2 groups (P=0.040). Stratification analysis showed that the frequency of rs2839356 C allele was higher in the patients with neurologic disorder than the patients without neurologic disorder (P=0.023).CONCLUSION: S100B gene rs9984765 and rs2186358 polymorphisms may not contribute to the susceptibility of SLE in Guangxi population. The rs2839356 C allele might be correlated with the SLE patients with neurologic disorder.     

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.     

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 rs2162459 polymorphism in CYP7A1 gene with effectiveness of atorvastatin in northern Chinese Han population

AIM：To investigate the association of the polymorphism of rs2162459 locus in cytochrome P-450, family 7, subfamily A, polypeptide 1 (CYP7A1) gene, encoding cholesterol 7α-hydroxylase, with the effectiveness of atorvastatin in northern Chinese Han population. METHODS：Clinical data and blood samples of 200 cases of hyperlipidemia patients were collected. The variants of rs2162459 in CYP7A1 gene were detected by multiplex SNaPshot technology. Several genetic models were constructed to analyse the association of gene polymorphism with the effectiveness of atorvastatin by logistic regression method. RESULTS：The polymorphism of rs2162459 was consistent with Hardy-Weinberg equilibrium. The baseline high-density lipoprotein cholesterol (HDL-C) concentrations in three genotypes of AA, GA and GG were (136±0.94) mmol/L, (1.16±0.38) mmol/L and (1.07±0.28) mmol/L, respectively (P<0.05). There were differences in the genotypic frequency and allelic frequency between atorvastatin effective and ineffective groups (both P<005). Significant differences in regulating HDL-C level among the three genotypes of rs2162459 were found after logistic regression. The results of additive model, generalized model and dominant model, presented as OR (95% CI), were 1.74 (1.09~2.77), 2.86 (1.13~7.25) and 2.21 (1.12~4.33), respectively. CONCLUSION: The baseline HDL-C level in the carriers of GG genotype is lower than that in the carriers of the other two genotypes. The HDL-C-elevating effect of atorvastatin on GG genotype carriers is more significant than that on AA genotype carriers.     

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.     

Association of single nucleotide polymorphisms of IL-1, IL-10 and TNF-β with rheumatoid arthritis in Chinese Han population from Quanzhou

AIM: To explore the genetic characteristics of enrolled rheumatoid arthritis and genetic mechanisms of rheumatoid arthritis (RA) by studying the associations of single nucleotide polymorphisms (SNPs) with rheumatoid arthritis in Chinese Han population from a very high prevalence area of rheumatoid arthritis, Quanzhou. METHODS: A case-control study of 155 rheumatoid arthritis patients (RA group) and 170 normal controls (control group) from Quanzhou were enrolled. All of 5 SNPs were genotyped by allele-specific polymerase chain reaction (PCR) and analyzed by SPSS 19.0. χ²-test was applied to predict Hardy-Weinberg equilibrium, and allele and genotype frequencies between RA group and control group were compared. Logistic regression models were used to analyze SNPs. Link disequilibrium analysis and haplotype analysis were performed with SHEsis software. RESULTS: Total of 1 SNP in control group was confirmed by Hardy-Weinberg equilibrium test (P>0.05), and 1 SNP in RA group was confirmed by Hardy-Weinberg equilibrium test (P>0.05). Allele frequencies of 4 SNPs were significantly different between control group and RA group (P <0.05). CONCLUSION: The SNPs of IL-10 rs1800893, IL-1β rs16944, TNF-β rs2009658 and TNF-β rs1041981 were associated with the incidence of rheumatoid arthritis in Chinese Han population of Quanzhou. Allele G of IL-10 rs1800893, allele G of IL-1β rs16944, allele C of TNF-β rs2009658 and allele C of TNF-β rs1041981 can be used as potential genetic markers for the diagnosis of RA in Quanzhou, Fujian.     

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.     

Association between survivin promoter -31C/G polymorphism and genetic susceptibility to sporadic colorectal cancer

AIM: To investigate the association between -31C/G polymorphism in the promoter of survivin gene and the susceptibility to sporadic colorectal cancer (CRC) in southern Chinese population. METHODS: survivin -31C/G genotypes were determined by PCR-RFLP in 711 healthy controls and 702 CRC cases. RESULTS: The number of CRC patients carrying with CC genotype was much higher than that of controls (36.5 % vs 26.2%,2 =17.89,P<0.01). Compared to CC genotypes, CG, GG genotypes and G allele carriers had a significantly decreased risk of CRC, with the decrease being 0.61-fold (95% confidence interval=0.46-0.80, P<0.01), 0.52-fold (95% confidence interval=0.38-0.71,P<0.01) and 0.58-fold (95% confidence interval=0.45-0.74, P<0.01), respectively. CONCLUSION: survivin gene -31C/G polymorphism is associated with sporadic CRC risk, the G variant genotype is the independent protective factors against sporadic CRC in southern Chinese population.     

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.     

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 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.     

Interaction of polymorphisms of ICAM-1 gene K469E and MCP-1 gene -2518A/G in invasion and metastasis of gastric carcinoma

AIM: To investigate the interaction of polymorphisms of intercellular adhesion molecule-1 (ICAM-1) gene K469E and monocyte chemoattractant protein-1 (MCP-1) gene -2518A/G in the invasion and metastasis of gastric carcinoma. METHODS: Based on TNM classification, 4 500 patients with confirmed gastric carcinoma from the First Affiliated Hospital of Xinxiang Medical University in China from December 2009 to November 2014 were divided into stageⅠ group, stage Ⅱgroup, stage Ⅲ group, stage Ⅳ group, and stage 0 group, with 900 cases in each group. No significant difference among the 5 groups in age, gender, ethnicity, birthplace and living habit was observed. The genetic polymorphisms of ICAM-1 gene K469E and MCP-1 gene -2518A/G were analyzed by the technique of polymorphism-polymerase chain reaction (PCR) in peripheral blood leukocytes of above-mentioned cases. RESULTS: Statistical tests showed signi-ficant differences in the frequencies of K469E (EE) and -2518A/G (GG) among each group (P<0.01). The risk of the invasion and metastasis of gastric carcinoma significantly increased in subjects with K469E (EE) genotype and in those with -2518A/G (GG) genotype. Combined analysis of the polymorphisms showed that distribution frequency of K469E (EE)/-2518A/G (GG) in stage Ⅰ group, stage Ⅱ group, stage Ⅲ group, stage Ⅳ group and stage 0 group was 39.22%, 53.22%, 59.22, 65.44% and 12.11%, respectively (P<0.01). The people who carried with K469E (EE)/-2518A/G (GG) had a high risk of the invasion and metastasis of gastric carcinoma, and statistical analysis suggested a positive interaction in a super-multiplicative model between K469E (EE) and -2518A/G (GG) in increasing the risk of the invasion and metastasis of gastric carcinoma. CONCLUSION: ICAM-1 gene K469E (EE) and MCP-1 gene -2518A/G (GG) are the risk factors in the invasion and metastasis of gastric carcinoma, and significant interactions between genetic polymorphisms of K469E and -2518A/G added the risk of the invasion and metastasis of gastric carcinoma.     

Relationship between bone mineral density and polymorphism of vitamin D receptor gene in postmenopausal women in Guangzhou

AIM:To investigate the prevalence of vitamin D receptor (VDR) gene polymorphism in Guangzhou postmenopausal women and to study the relationship between bone mineral density (BMD) and VDR gene polymorphism.METHODS:The genotype of VDR gene of 203 postmenopausal women in Guangzhou was detected by polymerase chain reaction-restriction fragment length polymorphism. BMD of lumbar spine, femoral neck, troch and Wards triangle were measured by dual-energy X-ray absorptiometry. RESULTS:The distribution of VDR in 203 subjects was BB genotype 17(8.3%), Bb 60(29.6%), bb(62.1%), respectively. The B allelic gene frequencies reached 23.05%. The distribution followed the Hardy-Weinberg equilibrium. The difference was found in lumbar spine BMD between bb and the other two genotypes (P<0.05), but no significant difference between Bb and BB genotype (P>0.05). There was no significant difference in BMD of the other region among three genotypes (P>0.05). CONCLUSION:Genotype of VDR is related to BMD, but there is no enough evidence to support genotype of VDR as a genetic marker in predicting the risk of developing osteoporosis in Guangzhou postmenopausal women.     

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.