Correlation of polymorphism of IL-8 and MMP-7 with occurrence and lymph node metastasis of early stage cervical cancer

The IL-8 and MMP-7 genes participate in the carcinogenesis of many malignancies,but the role of both genes in cervical cancer is not fully elucidated.The aim of this study was to determine the frequency of IL-8 and MMP-7 gene mutations and to assess their effects on the risk of early stage cervical cancer and lymph node metastasis.The clinical stage and histological grade of cervical cancer were also studied.The peripheral blood from the patients with early stage cervical cancers and normal controls was collected and the DNA was extracted.The incidence of IL-8 and MMP-7 gene mutations was assessed by using tetra-primer amplification refractory mutation system polymerase chain reaction(ARMS PCR) and restriction fragment length polymorphism(RFLP).The data were statistically analyzed by x2 test.The results showed that:(1) The genotype frequency of IL-8-251AT and TT was significantly higher in the cervical cancer group than in the normal control group(OR=2.290 and 2.619 respectively,P=0.001),and it was also higher in the lymphatic metastasis group than that without metastasis(OR=2.917,P=0.035);(2) The frequency of MMP-7-181G/G genotype was significantly higher in the cervical cancer group and in the lymphatic metastasis group(P<0.05);(3) The incidence of IL-8 mutation was two times higher in Ⅱa cervical cancer group than in Ⅰb1 and Ⅰb2 cervical cancer group(P=0.006).For the MMP-7 gene,there was statistically significant difference in the incidence of mutation between the Ⅰb1,Ⅰb2 and the Ⅱa(P=0.000);(4) Different histological types and different grades of cervical cancer had different incidence of mutations,statistically.It was suggested that there was significant difference in the genotype of IL-8-251TT and MMP-7-181GG polymorphism between the cervical cancer group and the lymph node metastasis group.Moreover,individuals with IL-8 T allele or MMP-7 G allele carriers were at significantly higher risk of cervical cancer,particularly the early(Ⅱa) and medium,poorly differentiated cervical cancer(G2+G3).     

Association of interleukin-6 and C-reactive protein genetic polymorphisms levels with venous thromboembolism

Background  Increased levels of interleukin-6 (IL-6) and C-reactive protein (CRP) have been reported in patients with venous thromboembolisms (VTE). However, prospective studies did not confirm an association between IL-6, CRP and their polymorphism with the risk of VTE.

Methods  One hundred and forty patients (including 66 males and 74 females, mean age (55.55±17.11) years) and one hundred and sixty controls (including 74 males and 86 females, mean age (56.58±12.24) years) were involved. An enzyme linked immunosorbent assay (ELISA) method was used for detecting the serum levels of inflammatory factors IL-6 and CRP in both groups. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used for analyzing the distribution of polymorphisms at the –572C/G and –597G/A sites of the promoter of the IL-6 gene and at 1059G/C of the CRP gene.

Results  Serum levels of IL-6 and CRP were significantly higher in the VTE group than in the control group (P <0.05). The frequencies of –572C/G promoter polymorphisms CC, CG, and GG in the IL-6 gene were found to be 34%, 48%, and 18%, respectively, and the derived allele frequencies for the C and G alleles were 58% and 42%. There was a significant difference in the –572C/G promoter polymorphisms between the VTE group and control group (P <0.05). For the –597G/A polymorphism, individuals all carried the GG and GA type; AA genotypes were not detected. The frequency of the GG, GC, and CC genotypes at the CRP1059G/C promoter was 87.57%, 7.86% and 3.57% in VTE group, while 86.25%, 10%, and 3.75% in control group, respectively. The frequency of G and C alleles at CRP 1059G/C was 91.43% and 8.57% in VTE group and 91.56% and 8.44% in the control group. The results showed that there was no statistically significant difference of 1059G/C genotype and mutation frequency of the allele between the VTE group and control group (P >0.05). Multiple Logistic regression analysis showed CC homozygotes of the IL-6 –572G/C, body mass index (BMI), and CRP, IL-6, and high-density lipoprotein cholesterol (HDL-C) were independent risk factors for VTE (P <0.05).

Conclusions  We found that VTE was associated with IL-6 and CRP levels, and there was an association of IL-6 and its promoter polymorphism at –572G/C with the risk of VTE. Thus far, a causal relationship between inflammation and VTE remains to be clarified and more prospective data are required.

     

The Association between Polymorphism of TNF-α Gene and Hypertensive Disorder Complicating Pregnancy

To study whether the development of hypertensive disorder complicating pregnancy is associated with -308G→A, -850C→T mutation at promoter of TNF-α gene, the -308G→A, -850C→T polymorphism was examined in patients and healthy pregnant women by PCR-RFLP technique. The frequencies of genotype and allele were compared between the two groups. The re- sults showed that with -308G→A polymorphism distribution, the allele frequency of TNF2 and the frequency of the genotype TNF2/1 in the patient group was significantly higher in the patient group than in control group (P<0.05). A significant difference in genotype distribution of -850C→T poly- morphism was observed between the two groups. The allele frequencies of T in patient group was higher in the control group as compared with the patient group. The frequencies of CT and TT genotypes were lower in the patient group. It is concluded that the TNF2 allele of -308 is associated with the occurrence of hypertensive disorder complicating pregnancy, while T allele of -850 may be the protective factor against the development of the disease. TNF2/1 CC may be susceptibility genotype of hypertensive disorder complicating pregnancy.     

Association between interleukin-4 polymorphisms and asthma

Objective：To perform a systematic review and meta analysis on the association of C-589T and C-590T polymorphisms of IL-4 with asthma and to estimate allele frequencies, the magnitude of the gene effect as well as the possible mode of inheritance. Methods： A genetic model-free approach was used to perform a meta analysis. Heterogeneity, sensitivity analysis and publication bias were also explored. Results： Our meta analysis summarized the evidence to date regarding the association of C-589T and C-590T polymorphisms in the promoter region of IL-4 gene with asthma. For C-590T, the results showed a significant recessive genetic model, and the CC genotype was about 24% less likely to have asthma than the genotype CT and TT. Although there was evidence suggesting a recessive genetic model for C-589T, the recessive model was not statistically significant. Conclusion： This meta analysis suggests that there may be an important effect of single nucleotide polymorphisms （SNPs） in the promoter region of IL-4 gene on the pathogenesis of asthma.     

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

【Objective】To evaluate the roles of 80A→G polymorphism of RFC-1 gene encoding the reduced folate carrier protein and 677C→T polymorphism of 5,10-methylenetetrahydrofolate reductase gene(MTHFR)in neural tube defects(NTD)risk in Ukrainian population.【Methods】The folate status,homocysteine levels and genotypes were assessed in 42 mothers of fetuses with spina bifida,anencephaly and encephalocele with the age of 19-40 years.Serum folate and plasma homocysteine levels were estimated using chemiluminescence technology.DNA was isolated from peripheral leukocytes obtained from blood using standard procedures.The presence of the RFC-1 80A→G polymorphism was investigated using polymerase chain reaction(PCR).Real time PCR was used to detect the presence of the 677C→T mutation in the MTHFR gene.【Results】Genotype frequencies for RFC-1 80A→G in NTD group were:homozygous wild type in 9(21.4%),heterozygous type in16(38.1%)women;17(40.5%)women surveyed were found homozygous for the mutant allele genotype of RFC-1(GG).Homozygous for the indicated mutation was found in 57.1%of women with fetal anencephaly in the past history and 29.6%of women with spina bifida fetuses.Allelic frequency in this group of women for allele A was 40.5%(34),for allele G was 59.5%(50).Among women with 80A/A genotype of RFC-1 gene reduced levels of serum folic acid were noticed only in 6(35.5%),but hyperhomocysteinemia was found in 10(58.8%)women.【Conclusion】80G→A polymorphism of RFC-1 gene is a potential genetic factor in the formation of fetus NTD in women of South Ukraine.     

Association Between IL-13 Gene Polymorphism and Asthma in Han Nationality in Hubei Chinese Population

In order to investigate whether Arg110Gln polymorphism in the coding region of the IL13 gene is associated with asthma and total plasma IgE level in Han nationality in Hubei Chinese population, the allele frequency of 4257 (g/a) site and Arg110Gln genotype of IL-13 was detected by using restriction fragment length polymorphism in Han nationality in Hubei Chinese population including 43 asthmatic children, 45 asthmatic adults, 31 control children and 46 control adults. Total plasma IgE was measured by Chemil.uminescence assay. The results showed that the frequency of allele A at 4257 bp of IL-13 in children and adults was 0.39 and 0.32, respectively. The GlnGln form of Arg110Gln polymorphism of IL-13 gene was associated with susceptibility of asthma and elevated total plasma IgE in children (P =0. 030 and 0. 0009, respectively), but not with them in adults (P=0. 219 and 0. 174, respectively). Our results suggest that the Arg110Gln polymorphism of IL-13 gene is associated with susceptibility of asthma and elevated total plasma IgE in Chinese children of Han nationality in Hubei, but not with them in adults.     

Polymorphism of Glutathione S—transferaseT1,M1and P1Genes in a Shanghai Population：Patients With Occupational of Non—occupational Bladder Cancer

Objective Glutathione S-transferases are involved in the conjugation of xenobiotics. To explore whether GSTs polymorphisms are involved in the development of occupational or non-occupational bladder cancer, polymorphism frequencies of GSTT1, M1 and P1 were investigated in a normal population, which had been settled in a rural area in Shanghai suburb for at least 5 generations as well as in a group of patients with benzidine exposure related occupational bladder cancer in Shanghai dyestuff industry and a group of patients with non-occupational bladder cancer. Methods PCR based procedures were performed in the study populations to confirm the genotypes of GSTT1, M1 and P1. Results The polymorphisms at locus of GSTP1- A1578G in the normal population differed significantly from those in Caucasians or African Americans. All the subjects genotyped so far (n =118) bore only homogenous wild genotype (C2293/ C2293) at GSTP1 - C2293T locus. This locus seemed to be a monomorphic in Shanghai population. No significant difference in GSTT1 and GSTM1 polymorphic form frequencies could be confirmed among three groups of subjects. An overrepresentation of GSTP1 AG or GG genotype corresponding a less stable and less effective isozyme protein was detected in patients with benzidine related occupational bladder cancer, compared with that in the normal population though a statistical significance was not yet reached (P=0.09, OR=1.96, 95% CI 0.89-4.32,). Conclusion This study suggests that GSTM1 or GSTT1 homozygous deficiency genotypes and their combination do not have a clear impact on bladder cancer incidence in a Shanghai population. It seems that GSTP1 polymorphism is not associated with non-occupational bladder cancer. GSTP1 AG or GG genotype has a higher frequency in the patients with benzidine related occupational bladder cancer, and further work is needed to confirm if GSTP1 AG or GG genotype plays a role in the development of occupational bladder cancer.     

Association of-238G/A and -857C/T polymorphisms of tumor necrosis factor-alpha gene promoter region with outcomes of hepatitis B virus infection

Objectives To determine whether -238G/A and -857C/T polymorphisms of tumor necrosis factor-alpha （TNF-o0 gene promoter were associated with outcomes of hepatitis B virus infection. Methods A total of 246 HBV self-limited infected subjects and 443 chronic hepatitis B （HB） patients were recruited in this case-control study. TNF-α-238G/A and -857C/T gene promoter polymorphisms were examined by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. Results The frequency of TNF-α-238 GG （90.7%） in chronic HB group was significantly lower than that （95.1%） in self-limited group （P=0.041）. The frequency of TNF-oc-857 CC （79.7%） in chronic HB patients was significantly higher than that （70.9%） in self-limited infected subjects （P=0.021）. Multiple logistic regression analysis revealed that both TNF-oc-238GA and -857CC were independently associated with chronic HB. Conclusions TNF-α promoter variants are likely to play a substantial role in influencing the outcomes of HBV infection.     

A meta-analysis of relationship between β-fibrinogen gene -148C/T polymorphism and susceptibility to cerebral infarction in Han Chinese

Objective The results of studies on association between -148C/T polymorphism in promoter region of β-fibrinogen gene and susceptibility to cerebral infarction in Chinese population are controversial. In this study, we summarize the results of published works in this field by a meta-analysis. Data sources Genetic association studies evaluating the β-fibrinogen gene -148C/T polymorphisms and cerebral infarction involving Chinese population published before December 2005 were collected from PubMed, EMBASE and CNKI. Study selection Case control studies involving unrelated, Han subjects aged from 18 to 80 years, and the internationally recognized diagnostic standard of cerebral infarction and genotype frequencies in control group consistent with Hardy-Weinberg equilibrium were used. Publication bias was tested by funnel plot and the odds ratios of all studies were combined dependent on the result of heterogeneity test among the individual studies. The software Review Manager (Version 4.2) was used for meta-analysis. Results Eleven studies including 1223 patients and 1433 controls met the selection criteria. There was no heterogeneity among the odds ratios (ORs) of individual studies (χ(2)=17.82, P=0.06). The combined OR of susceptibility to cerebral infarction in -148T allele carriers compared to the wild homozygote was 1.32 (95%CI 1.12 to 1.55, P=0.0008). In the patients with cerebral infarction, the average plasma fibrinogen level of allele T carrier was 0.42 g/L (95%CI 0.29 to 0.54, P&lt;0.001), higher than that of -148C/C homozygous ones. Conclusions β-fibrinogen gene -148C/T polymorphism might contribute to susceptibility to cerebral infarction in Han Chinese. To reach a definitive conclusion, further gene to gene and gene to environment interactions studies on β-fibrinogen polymorphisms and cerebral infarction with large sample size are required.     

Polymorphism of the DNA repair gene XPA and susceptibility to lung cancer

Objective： To study the relationship between one polymorphism in the promoter of the DNA repair gene XPA and the susceptibility to lung cancer. Methods： Genotypes were determined by the PCR-restriction fragment length polymorphism （PCR-RFLP） method in 310 histologically-confirmed lung cancer cases and 341 age and sex frequency-matched cancer-free controls. Results： The XPA A23G genotype frequencies were 27.1% （AA）, 42.9% （AG）, and 30.0% （GG） in case patients and21.1% （AA）, 5218% （AG）, and 26.1% （C-G） in control subjects. Multivariate logistic regression analysis revealed that individuals carrying at least one 23G variant allele （AG ＋ GG genotypes） had a significantly decreased risk for lung cancer （adjusted OR = 0.66; 95 % CI = 0.44- 0.98） compared with the wild-type genotype （23AA）. Stratified analysis showed that the protective effect was more evident in subjects with a family history of cancer. Conclusion： These results suggest that the XPA A23G polymorphism may have a role in lung cancer susceptibility in this study population.     

IL-6基因-597G/A与-572C/G多态性在湖北汉族人群中的分布

目的 :观察白细胞介素 6 (IL 6 )基因 5 97G/A与 5 72C/G多态性在湖北地区汉族人群中的分布及其与研究人群一般临床和生化特征的关系。方法 :检测 2 0 3例湖北地区汉族健康人群的IL 6基因 5 97G/A、 5 72C/G多态性和一般临床、生化指标。结果 :在湖北地区汉族人群中IL 6基因 5 97位点仅发现有GG基因型 ,未见GA和AA基因型 ; 5 72位点存在CC、CG、GG3种基因型 ,C和G等位基因频率分别为 0 .81,0 .19,基因型和等位基因分布均无性别差异。 5 72C/G基因型间年龄、性别、体重指数、血压、血糖、总胆固醇、甘油三酯、白细胞计数等水平均无差异 (P均 >0 .0 5 ) ,但G等位基因携带者血小板计数显著高于CC基因型人群 (188.2 3± 5 2 .5 6 )vs(181.30± 5 0 .10 ,P <0 .0 5 ;单位 :× 10 9·L-1)。湖北地区汉族人群IL 6基因 5 97G/A与 5 72C/G多态性分布与日本人群较为接近 (P >0 .0 5 ) ,但明显不同于欧美白种人 (P <0 .0 1)。结论 :IL 6基因 5 97G/A与 5 72C/G多态性分布存在种族差异 ,中国湖北地区汉族人群中可能不存在IL 6基因 5 97G/A多态性 , 5 72位点存在多态性 ,G等位基因为少见基因 ; 5 72G等位基因携带者外周血血小板计数较高 ,这在血栓性疾病的一级预防中具有一定的意义。     

白细胞介素6基因启动子-634C/G 多态性与冠心病的关联

目的:探讨白细胞介素(interleukin t,IL)-6基因启动子-634C/G多态性与冠心病的相关性?方法:纳入86 例冠心病及91例对照组患者,检测相关生化指标,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测两组患者IL-6基因型,酶联免疫吸附(ELISA)法检测IL-6血清水平?比较两组间基因型?等位基因频率以及不同基因型对血清IL-6 水平的影响?结果:冠心病组与对照组间年龄?性别?吸烟史?高血压病史及相关生化指标未见统计学差异(P > 0.05),冠心病组外周血IL-6水平明显高于对照组[(26.57 ± 6.68)ng/L vs. (6.89 ± 2.32)ng/L,P < 0.05],IL-6基因启动子-634C/G 3种基因型(CC?CG?GG)在冠心病组中的频率为57%?29%?14%,在对照组中的频率为65.9%?31.9%?2.2%,两组间基因型频率存在统计学差异(P < 0.05)?冠心病组中IL-6基因启动子位点G等位基因携带者(GG?CG基因型)血清IL-6水平高于不携带者[(34.575 ± 6.618)ng/L vs. (16.758 ± 5.182)ng/L,P < 0.05]?结论:IL-6基因启动子634C/G基因多态性与冠心病相关,其中G等位基因携带者外周血IL-6 水平显著增高?     

IL-6基因634C/G多态性与糖尿病周围神经病变相关性研究

目的：探讨白细胞介素-6(IL-6)基因启动子区-634C/G多态性与广东地区汉族人群糖尿病周围神经病变(DPN)的关系。方法收集2014年1月至2015年1月我院收治的125例2型糖尿病无周围神经病变患者(DPN0组),83例2型糖尿病周围神经病变患者(DPN组)及101例健康对照者(NC组),采用聚合酶链反应限制性片段长度多态性(PCR-RFLP)方法检测其IL-6基因启动子区-634C/G多态性,比较分析各组间基因型频率、等位基因频率以及相关临床资料。结果 DPN0组的GG基因型频率(16.0%)明显高于NC组的4.0%(P<0.05),DPN0组(34.4%)、DPN组(33.1%)的G等位基因频率均明显高于NC组的22.3%(P<0.05),但DPN0和DPN两组间G等位基因频率差异无统计学意义(P>0.05)。结论 IL-6基因启动子区-634 G/G基因型不是广东汉族人群DPN发生的遗传危险因素,但G等位基因可能是DPN发生的遗传危险因素之一。     

白细胞介素-6基因启动子-174G/C单核苷酸多态性的研究

目的　研究广西汉族人群白细胞介素 -6(IL -6)基因启动子 -174位点单核苷酸多态性分布特点 ,比较其在不同种族间分布的差异。方法　应用聚合酶链反应 -限制性片段长度多态性 (PCR -RFLP)的分析方法 ,检测了 198例健康者IL -6基因启动子 -174位点单核苷酸的多态性。结果　IL -6基因各基因型频率GG型为 98.48% ,GC型为 1.5 2 % ;G、C各等位基因频率分别为 99.2 4% ,0 .76% ,这种基因多态性分布在男女之间差异均无显著性 (P >0 .0 5 )。但与其它种族比较 ,发现不同种族间IL -6基因型分布及等位基因频率差异均有高度显著性 (P <0 .0 1)。结论　IL -6基因启动子 -174G/C单核苷酸多态性分布存在着较大的种族差异。这种差异可能是导致一些疾病在不同种族间的发病率和临床表现存在显著不同的因素之一。     

白细胞介素-6基因多态性与2型糖尿病肾病的关联性研究

目的　研究白细胞介素 6 (IL 6 )基因启动子区 6 34C/G多态性与 2型糖尿病肾病的关系。方法　运用聚合酶链反应—限制性片段长度多态性 (PCR RFLP)方法检测了 2 6 7例 2型糖尿病患者 ,其中正常白蛋白尿者 90例 ,微量白蛋白尿者 85例 ,大量白蛋白尿者 92例及 12 6例非糖尿病对照者的IL 6基因型。结果　①大量白蛋白尿组GG基因型频率和G等位基因频率高于正常组及正常白蛋白尿组 ,有统计学差异 (均P <0 .0 5 )。②微量白蛋白尿组与正常组和正常白蛋白尿组相比 ,基因型和等位基因频率均无显著性差异 (均P >0 .0 5 )。结论　IL 6基因 6 34C/G多态性可能是糖尿病肾病进展的一个遗传易感因子。     

IL-6和IL-10基因多态性与睡眠呼吸暂停综合征合并高血压的关系

目的：探讨IL-6和IL-10基因多态性与阻塞性睡眠呼吸暂停综合征（obstructive sleep apnea hypoventilation syndrom, OSAHS）合并高血压的关系。方法选择2006-2012年于本院行多导睡眠检查为重度OSAHS的男性患者300例,其中合并高血压者145例,单纯OSAHS155例,同时随机抽取100例健康男性为对照组,采用基因测序的方法,检测IL-6启动区基因-572C＞G和-174C＞A,以及IL-10启动区基因-592A＞C和-1082C＞A的基因多态性。比较OSAHS伴高血压组、单纯OSAHS组以及健康对照组之间IL-6和IL-10基因多态性的关系。结果 IL-6-572的GG型基因在OSAHS合并高血压组比例增高,为11.0%,而单纯OSAHS组为4.1%;IL-6-174的CG型基因在OSAHS合并高血压组明显增高,为6.2%,而单纯OSAHS组为0.6%;IL-6-174的C等位基因频率在OSAHS合并高血压组也明显增高,为3.1%,而单纯OSAHS组为0.3%;IL-10-1082的AG型基因在OSAHS合并高血压组明显增高,为20.7%,而单纯OSAHS组为11.0%;IL-10-1082的G等位基因频率也明显增高,为10.4%,而单纯OSAHS组为5.5%;IL-10-592A/C的基因类型在各组之间的基因频率分布差异无统计学意义。结论 IL-6-572GG型基因、IL-6-174CG型基因和IL-10-1082AG型基因可能参与OSAHS相关高血压的发病。     

IL-6基因多态性与短暂性脑缺血发作的关系

目的:研究IL-6基因启动子区域 (-174)位点G/C碱基多态性与短暂性脑缺血发作（TIA）的发病率及其临床进程之间的关系。方法:临床确诊的121例TIA患者和114例同年龄段、同性别组成的健康对照者,采血并用MS-PCR法对基因型进行检测,随访3个月,记载3个月内进展为脑梗塞的情况。结果:TIA患者的GG型基因比例（54.6%）明显高于对照组（38.6%）(P<0.05),也明显高于其他两型（GC 30.6%,CC 14.9%）(P<0.05)。GG型患者66例,3个月内发展为脑梗塞者28例（42.4%）,与GC型(16.2%,6/37)、CC 型（16.7%,3/18）相比,差异有显著性（P<0.05)。 结论:IL-6基因启动子区域GG型与TIA的发病及预后有明显的相关性。     

Significance of -191G/C single nucleotide polymorphisms in the promoter region of ATP-binding cassette transporter gene in coronary artery disease]

OBJECTIVE: To investigate the effect of -191G/C single nucleotide polymorphisms (SNP) in the promoter region of ATP-binding cassette transporter A1(ABCA1) gene on plasma lipids and its significance in coronary artery disease (CAD). METHODS: By polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), -191G/C SNP in the promoter region of ABCA1 gene was analyzed in 204 patients with CAD and 114 control subjects and the distribution of the -191G/C genotypes compared between the two groups and also between different clinical phenotypes of CAD. The clinical indexes associated with CAD were also compared between the patients with the three genotypes of CAD. RESULTS: The frequency distribution of GG, GC, and CC genotypes significantly differed between CAD group and the control group, and the former group had obvious higher CC genotype frequency and the C allele frequency (P<0.05 and P<0.01, respectively). In CAD patients, the frequency distribution of GG, GC, and CC genotypes varied significantly between those with acute coronary syndrome (ACS) and those with stable angina pectoris (SAP). The CC genotype showed obviously higher frequency in ACS group than in SAP group and the C allele was more frequent in the former group (P<0.05 and P<0.01, respectively). However, no significant difference was noted in the body mass index, total cholesterol, triglyceride, high-density lipoprotein, low-density lipoprotein, or very low-density lipoprotein cholesterols between the three genotypes. CONCLUSIONS: The -191G/C SNP in the promoter region of ABCA1 is associated with increased CAD and the C allele may relate to the stability of CAD without detectable changes in plasma lipids.     

ABCA1基因启动子区-191G/C单核苷酸多态性在冠心病中的意义

目的 研究ABCA1基因启动子区-191G/C单核苷酸多态性(SNP)对血脂的影响及其在冠心病中的意义。方法 用聚合酶链反应-限制性片段长度多态性法(PCR-RFLP)探讨204例冠心病患者和114例正常人的ABCA1基因启动子区-191位点G/CSNP在两组间、冠心病组不同临床表现型之间分布的差异及3种等位基因型与冠心病相关临床指标的关系。结果 冠心病组与正常人组比较,3种等位基因型GG、GC、CC分布频率差异具有显著性,CC基因型在冠心病组中的分布频率明显高于正常人组(P<0.05),C等位基因在冠心病组中的分布频率明显高于正常人组(P<0.01)。在稳定性心绞痛组(SAP)和急性冠脉综合征组(ACS),3种等位基因型GG、GC、CC分布频率差异也具有显著性,ACS组CC基因型明显高于SAP组(P<0.05),C等位基因在ACS组中分布频率明显高于SAP组(P<0.01)。在冠心病组中,3种等位基因型间体重指数、总胆固醇、总甘油三脂、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇、极低密度脂蛋白胆固醇等临床指标的比较无显著性差异。结论 ABCA1基因启动子区-191G/CSNP在不影响中国冠心病人群血脂水平的情况下增加冠心病的发生,C等位基因与冠心病的稳定性相关。     

二甲基精氨酸二甲胺水解酶1 rs3087894C/G 单核苷酸多态性与 我国肝细胞癌遗传易感性的相关性

目的探讨二甲基精氨酸二甲胺水解酶1(DDAH1)rs3087894C/G单核苷酸多态性与我国汉族人群中肝细胞癌(HCC)遗传易感性的关系。方法用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)法对120例HCC患者(病例组)和70例健康对照者(对照组)进行基因型分析。结果病例组DDAH1 rs3087894C/G位点CC+CG、GG基因型频率分别为33.3%和66.7%,对照组基因型频率分别为7.1%和92.9%,2组比较差异均有统计学意义(P<0.05)。与GG基因型相比,CC+CG基因型个体患HCC的风险度高(OR=3.793,95%CI=1.589～8.307)。DDAH1 rs3087894C/G单核苷酸多态性与乙型肝炎病毒感染、甲胎蛋白水平有相关性(P<0.05),与患者性别、年龄、肿瘤大小、分化程度、淋巴结转移无相关性(P>0.05)。结论 DDAH1 rs3087894C/G单核苷酸多态性与我国HCC发生有相关性。