IL-1β血清水平及IL-1B和IL-1受体拮抗剂基因多态性与胃癌关系探讨

目的 探讨白细胞介素(IL)-1β血清水平及IL-1B和IL-1RN基因多态性与胃癌及幽门螺杆菌(Hp)感染胃癌发生发展的相关性.方法 以酶联免疫吸附试验(ELISA)测定IL-1β血清水平及抗Hp抗体IgG、IgM和IgA浓度;采用基因芯片技术检测260例胃癌患者和284例不相关联的健康对照人群中IL-1B-31C/T、-511C/T位点单核苷酸多态性(SNP);以琼脂糖凝胶电泳检测IL-1RN基因多态性(VNTR).结果 胃癌组IL-1β血清水平[(802±148) ng/L]显著高于对照组[(501±125) ng/L],P<0.01;胃癌组Hp感染率明显高于对照组[P<0.001, 相对危险度(OR)=2.59].胃癌组IL-1B-31TT基因型频率明显高于对照组(P<0.01,OR=1.95);胃癌组IL-1B-511TT基因型频率明显高于对照组(P<0.05,OR=1.62);Hp阳性(Hp+)胃癌组-511TT基因型频率明显高于Hp阴性(Hp-)胃癌(P<0.05,OR= 2.00);胃癌组T-T单体型频率显著高于对照组(χ2=4.45,P<0.05).不论在胃癌组还是在Hp+胃癌组,携带IL-1B-31T或-511T等位基因者血清IL-1β水平均高于其相应CC基因型携带者,且IL-1B-31T、-511T携带者在Hp+胃癌组较Hp-胃癌组的IL-1β水平显著增高(P<0.001).未见IL-1RN基因型及其他IL-1B基因型与胃癌或Hp+胃癌有显著相关性.结论 IL-1B-31TT基因型与胃癌易感性相关;IL-1B-511TT基因型与胃癌特别是Hp+胃癌易感性相关.IL-1B-31T/-511T等位基因均与IL-1β血清水平显著相关(P<0.001).T-T单体型可能是胃癌的遗传易感因素.     

高分辨率融解曲线技术检测冠心病患者IL-1β和IL-1Ra基因多态性

目的为探讨白细胞介素1β(IL-1β)和白细胞介素1受体拮抗剂(IL-1Ra)基因单核苷酸多态性(SNP)与冠心病(CHD)易感及其血清学指标的相关性,应用高分辨率融解曲线分析(HRM)技术建立IL-1β和IL-1Ra基因SNP的分子诊断方法。方法建立IL-1B-511CT、IL-1B-31CT、IL-1B+3954CT和IL-1RN TC这4个SNP位点的PCR-HRM检测方法,对260例CHD患者和274例健康对照进行比较研究,分析其与CHD易感及血清学指标的关系。结果上述4个SNP位点未发现与CHD易感有统计学差异,性别分层后发现男性IL-1B-31CT位点和女性IL-1B+3954CT位点的等位基因频率,在病例组和对照组间存在差异;单倍型分析发现IL-1B-511T/IL-1B-31C/IL-1B+3954C/IL-1RN T(TCCT)单倍型增加CHD发病风险(OR=1.217,95%CI:0.950~1.559,P=0.123),CTCC和TTCT单倍型降低CHD发病风险(OR=0.612,95%CI:0.376~0.994,P=0.046;OR=0.365,95%CI:0.154~0.862,P=0.017);病例组血清学指标的相关性分析未发现其与SNP位点之间有关联性。结论应用HRM技术建立的4个SNP位点PCR-HRM检测方法经测序验证和临床标本检测均能正确基因分型,实现了快速基因分型的均相检测。IL-1B-31CT、IL-1B+3954CT位点和单倍型CTCC和TTCT与中国兰州地区汉族人群CHD易感性有关。     

IL-23R基因多态性与吉林人群强直性脊柱炎易感性的关联研究

目的:探讨吉林人群IL-23R基因rs7517847和rs10489629位点的单核苷酸多态性与强直性脊柱炎易感性的关系。方法:采用PCR-RFLP方法对188例强直性脊柱炎患者进行IL-23R基因多态性检测,与100例健康者对照分析。结果:两个SNP位点(rs7517847和rs10489629)各基因型频率和等位基因频率在AS组与对照组之间的分布差异均有统计学意义(P0.05),并在假设遗传方式下,rs7517847位点的纯合突变GG基因型与(TG+TT)基因型比较;rs10489629位点的纯合突变AA基因型与(GA+GG)基因型比较,其频率分布差异在AS组与对照组之间也具有统计学意义(P0.05)。结论:IL-23R基因rs7517847和rs10489629位点的多态性均与吉林人群AS易感性有关;携带G等位基因(或A等位基因)且为GG(或AA)基因型的个体患AS的倾向性增大,可能是患AS的易感因素之一。     

PATZ1基因单核苷酸多态性与无精症的关系

目的 研究PATZ1基因的4个单核苷酸多态性(single nucleotide polymorphism,SNP)rs2240424、rs2057951、rs2240427和rs714909的多态性与无精症的关系.方法 用PCR-限制性片段长度多态性分析方法,在180例无精症患者和190名正常男性中对上述4个SNP位点的基因频率和基因型频率分布进行调查.结果 rs2057951位点的等位基因C(35.0%vs.27.6%,P=0.031)和带有等位基因C个体(CT+CC)(57.8%vs.46.3%,P=0.027)的频率在无精症患者显著高于正常男性.4种SNP的单倍型在两组人群中的分布差异有统计学意义(P=0.01),单倍型ACAC(11.1%vs.6.6%,P=0.029)和ACGC(11.2%vs.5.2%,P=0.003)在无精症患者中显著高于正常男性.结论 PTAZ1的rs2057951位点的等位基因C和单倍型ACAC和ACGC增加无精症的易感性,提示PTAZ1基因可能与无精症发病相关.     

广西壮族人群白细胞介素-1α与β的基因多态性分布

目的：了解白细胞介素-1α（IL-1α）基因-889位点和IL-1β基因-511位点多态性在广西壮族健康人群中的分布。方法：采用PCR-RFLP方法,对上述两位点进行了检测,计算其基因型和等位基因频率。结果：II-1α（-889）和IL-1β（-511）等位基因C、T频率在壮族正常人群中分别为93．9％、6．1％和53．4％、46．6％;与奥地利、非洲黑人、非洲白人健康人群相比,IL-1α（-889）基因型分布及等位基因频率均存在高度显著性差异;与奥地利、非洲白人健康人群相比,IL-1β（-511）基因型分布及等位基因频率存在显著性差异。结论：广西壮族健康人群IL-1α（-889）基因多态性分布与奥地利、非洲黑人、非洲白人不同;IL-1β（-511）基因多态性分布与奥地利、非洲白人不同。     

湖北地区汉族健康人群白细胞介素-1α基因启动子-889C/T位点多态性的研究

目的 :了解湖北地区汉族健康人群白细胞介素 1α基因 (IL 1A )启动子 -889位点的单核苷酸多态性 (SNP) ,比较其在不同种族间的分布特点。方法 :采用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)分析的方法 ,检测 184名健康者IL 1A启动子 -889位点的SNP ,分析其基因型和等位基因频率。结果 :CC、CT、TT三种基因型 ,以C等位基因发生频率最高 ( 92 .4% ) ,T等位基因次之 ( 7.6% ) ;与挪威人群比较 ,其基因型和等位基因频率均存在极显著性差异 (P <0 .0 0 1) ,而与日本人群相比也有显著差异 (P <0 .0 5)。结论 :IL 1A启动子 -889位点存在SNP ,其在不同种族间的分布存在明显的差异 ,这种差异有可能是导致一些疾病在不同种族间的发病率和临床表现显著不同的因素之一     

吸烟影响IL1B基因多态与NSCLC易感性

目的 探讨吸烟与IL1B基因多态性、非小细胞肺癌(NSCLC)遗传易感性之间的关系.方法 本文采用病例-对照研究,对889例肺癌患者和1005例性别、年龄与之相匹配的健康对照中IL1B rs1143623 G＞C和rs12621220 G＞A两个单核苷酸多态性位点(SNP)进行基因分型,并统计分析各基因型频率分布、吸烟与NSCLC患病的关系.结果 ①吸烟影响NSCLC易感性:有吸烟史的人群NSCLC患病风险较无吸烟史的人群高(校正性别、年龄、吸烟量等因素后,OR =3.744,95％ CI =2.885 ～4.858;P=2.980 ×10-23);对有吸烟史的人群分析后发现高吸烟量增加NSCLC的风险(P =4.350×10-29);进一步发现戒烟人群的吸烟量显著高于持续吸烟人群的吸烟量(P =0.016),持续吸烟但低吸烟量对NSCLC易感性有显著保护作用(校正性别、年龄、吸烟量等因素后,OR=0.219,95％ CI =0.164～0.291;P=2.233 × 10-25),即高吸烟量增加NSCLC风险;②吸烟因素影响IL1B rs1143623G＞C和rs12621220G＞A与NSCLC易感性的关联:在戒烟人群中,rs1143623G ＞C位点GC基因型对NSCLC发生具有较低限度的保护效应(校正性别、年龄、吸烟量等因素后,OR=0.543,95％ CI =0.291 ～1.011;P=0.054),该种保护作用相对稳固,表现为联合GC+CC基因型仍然对NSCLC有保护作用(校正OR=0.563,95％ CI =0.313 ～ 1.013;P=0.055),进一步亚组分析发现,此种保护效应主要体现在对腺癌(ADC)的保护(校正OR=0.491,95％ CI=0.241 ～1.001;P=0.050);rs12621220 G＞A位点GA基因型对NSCLC发生具有保护效应(校正OR =0.427,95％ CI=0.210～0.868;P=0.019),此种保护效应主要是与ADC相关.结论 IL1B基因多态性与NSCLC易感性和吸烟行为相关.     

IL-18受体α链基因多态性与重庆汉族人结核病易感性的关系

目的:探讨重庆地区汉族人群白细胞介素18受体α链(IL-18Rα)基因多态性与结核病易感性的关系.方法:采用序列特异性引物多聚酶链反应(PCR-SSP)分析重庆汉族人群中427例结核病患者和469名健康对照的IL-18Rα基因的-69C/T,-638C/T位点多态性,统计分析基因多态性与结核病易感性的关系.结果:IL-18Rα基因启动子-69和-638位点核苷酸均存在C、T二态性,都表现为CC纯合、TT纯合、CT杂合三种基因型;-69C/T位基因型分布频率在结核组与对照组间差异有统计学意义,对照组CC基因型频率(41.6%)明显高于结核组(30.4%)(χ2=13.011,P=0.001),结核组的等位基因T频率(44.8%)明显高于对照组(36.6%)(χ2=11.2,P=0.001);T等位基因在结核组与对照组比较,优势比OR=1.41.-638C/T位基因型和等位基因分布频率分别在结核组与健康对照组间的分布差异均没有统计学意义(P＞0.05).结论:重庆汉族人IL-18Rα基因的-69C/T多态性与结核易感性相关,携带-69T等位基因的人群更易患结核病,而-638位C/T多态性与结核病易感性无明显相关性.     

基于飞行时间质谱技术研究手足口病人群IL-22／IL-22RA1基因单核苷酸多态性

目的探讨Th22细胞相关性细胞因子IL-22／IL-22RA1基因单核苷酸多态性（SNP）与手足口病易感性及其转归的关系。方法采用病例-对照研究方法,选取2012年4月至9月深圳市第三人民医院收治并确诊的手足口病住院患者296例为病例组,其中轻症手足口病患者178例,重症患者118例,对照组为同期在该医院健康体检儿童155例。应用飞行时间质谱（timeoffightmassspectrum,TOF—MS）生物芯片技术,检测IL-22／IL-22RAl基因共4个SNP位点基因型（rs2227473、rs2227483、rs3795299、rs34379702）,对SNP进行Hardy．Weiberg平衡检测,并计算各SNP位点在不同人群中等位基因频率,筛选与手足口病易感性、预后相关的SNP位点。结果纳入研究的4个SNP位点的基因型分布均处于遗传平衡状态。人组人群中IL-22的基因rs2227473位点存在GG、GA和AA基因型,重症手足口病组rs222743位点A等位基因频率（13．14％,31／236）显著高于轻症组（6．18％,22／356）,差异有统计学意义（x^2=8．424,P〈0．001,A=2．296,95％CI=1．294—4．074）。对于EV71相关性手足口病而言,重症组A等位基因频率（19．64％,22／112）显著高于轻症组（7．41％,4／54）,差异有统计学意义（x^2=4．129,P=0．042,A=3．056,95％CI=0．997—9．368）。结论IL-22基因rs2227473位点多态性与手足口病转归密切相关,尤其是EV71相关性手足口病。     

西藏藏族人群白细胞介素1β基因+3953 C/T多态性

目的:研究白细胞介素1β(IL-1β)第5外显子+3953位点核苷酸C/T多态性(SNP)在西藏藏族健康人群中的分布特点,并与其他不同种族进行比较.方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法,对125名西藏拉萨市藏族人群IL-1β +3953位点SNP进行检测,计算其基因型频率和等位基因频率,并结合文献与其他不同种族进行比较分析.结果:西藏拉萨市藏族人群IL-1β +3953位点基因型以CC 纯合子型最为多见,(频率为91.20%),CT杂合子型次之(8.00%),TT纯合子型很少(0.80%);其等位基因分布也是以C等位基因最为多见(95.20%),其次为T等位基因(4.80%).西藏藏族人群的等位基因频率分布与德国、西班牙人、高加索人的差异较大,具有统计学意义.而与亚洲人群包括日本人和湖北汉族、广西汉族、广西壮族差异无统计学意义.结论:西藏拉萨市藏族人群中IL-1β +3953位点以C等位基因为主,其SNP分布与其他种族之间存在差异.     

Uterine Leiomyoma is Associated with a Polymorphism in the Interleukin 1-β Gene

Problem  To investigate whether polymorphisms in the interleukin-1β (IL-1β) gene are associated with uterine leiomyoma.
Method of study  Case–control study in a collective of 131 patients and 280 controls. Genotyping of the IL-1β-511 and IL-1β-3954 polymorphism was performed by PCR amplification and subsequent RFLP analysis.
Results  A significant difference in the allele frequencies of the IL-1β-511 C Conclusion  The IL-1β-511 promoter polymorphism is related to an increased susceptibility to uterine leiomyoma, suggesting that this polymorphism does contribute to the development of this disease.     

白细胞介素1B及受体拮抗剂基因多态性与慢性乙型肝炎的相关性

目的　探讨白细胞介素 1B(interlukin- 1B,IL - 1B)基因启动子区域 - 5 11C/ T和白细胞介素1受体拮抗剂 (receptor antagonist,RN )基因在慢性乙型肝炎及正常人群中的多态性 ,初步分析其基因型与慢性乙型肝炎的相关性。　方法　对 190例慢性乙型肝炎患者和 2 4 9名正常人 IL - 1B、 RN基因进行PCR扩增 ,其中 IL - 1B基因用 Ava 限制性内切酶对 PCR产物进行消化 ,然后经琼脂糖凝胶电泳分别对IL- 1B、RN基因多态性进行分析。　结果　 IL- 1B基因在正常人和慢性乙型肝炎患者中 - 5 11C等位基因频率分别为 0 .5 0和 0 .4 8,- 5 11T等位基因频率分别为 0 .5 0和 0 .5 2。 3种基因型频率分别为 CC型 :0 .2 6(6 5 / 2 4 9)和 0 .2 4 (4 5 / 190 ) ;CT型 :0 .4 7(118/ 2 4 9)和 0 .4 9(94 / 190 ) ;TT型 :0 .2 7(6 6 / 2 4 9)和 0 .2 7(5 1/190 )。IL- 1B基因启动子 - 5 11位点 CC型慢性乙型肝炎患者乙肝病毒 DNA水平明显降低 (P<0 .0 5 )。在IL- 1RN的 5种不同组合等位基因 ,只发现 1/ 1、1/ 2、2 / 2和 1/ 4四种基因型 ,其在慢性乙型肝炎患者和正常人中的分布为 1/ 1型 :0 .88和 0 .81;1/ 2型 :0 .0 9和 0 .16 ;2 / 2型 :0 .0 1和 0 .0 1;1/ 4型 :0 .0 2和 0 .0 2。其中 IL - 1RN* 1等位基因频率在慢性乙型肝     

Association of IL-1β and IL-6 gene polymorphisms with recurrent spontaneous abortion in a Chinese Han population

As certain cytokines may play a role in unexplained recurrent spontaneous abortion (RSA) and also some cytokine gene polymorphisms may affect the level of cytokine production, the aim of this study was to investigate the relationship between Chinese RSA and polymorphisms of the genes coding for interleukin (IL)-1β (-31C/T, -511C/T, +3954C/T) and IL-6 (-634C/G). Women (n = 162) with at least three consecutive spontaneous abortions and 156 ethnically matched healthy women with at least one successful pregnancy were included. Genotypes were determined using restriction fragment length polymorphism analysis of polymerase chain reaction products. No significant differences were found in the IL-1β-31T, -511T and +3954T distributions between the RSA group and the control group. On the other hand, the frequencies of the IL-6-634GG genotype and -634G allele were significantly decreased in the RSA group versus the control group (genotype: P = 0.0003; allele: P = 0.002), suggesting the IL-6-634C/G polymorphism might be a possible genetic protective factor for RSA.     

Correlation between single nucleotide polymorphisms in a calprotectin subunit gene and risk of periodontitis in a Chinese population

S100A8, the light subunit of calprotectin, has been known to be associated with periodontal inflammation. The present study looked to detect whether three polymorphisms in the upstream region of the S100A8 gene are correlated with periodontitis. Three hundred and twenty one subjects, including chronic periodontitis (CP) patients, aggressive periodontitis (AgP) patients and periodontally healthy controls, were recruited. The SNPs rs3795391, rs3806232 and rs3885688 were analyzed by PCR-RFLP analysis. No person carried the rs3885688 polymorphism in this cohort. For the other two polymorphisms, the combined effects of genotype/allele and gender were shown to be associated with the risk of periodontitis using multivariate logistic regression analysis. The G⁺ genotype/G allele may be considered to exert a significant protective effect in males against AgP (Genotype: rs3795391: P = 0.032, rs3806232: P = 0.017; Allele: rs3795391: P = 0.024, rs3806232: P = 0.013). Although the combined effects of genotype and gender on CP susceptibility were not observed for these two polymorphisms, there does seem to be increased risk of CP in males with allele A compared to females with allele A (rs3795391: P = 0.008; rs3806232: P = 0.009). Hence we found an important association between polymorphisms in the S100A8 gene and periodontitis in a Chinese population.     

IL-1 gene polymorphisms and genetic susceptibility of gallbladder cancer in a north Indian population

Long-standing gallstones are generally present in 65-80% patients of gallbladder cancer (GBC). It has also been suggested that inflammation caused by gallstones may be involved in the development of GBC. Interleukin-1 receptor antagonist (IL-1RN) and interleukin-1 beta (IL-1B) are proinflammatory cytokine genes at the interleukin-1 locus, and polymorphisms of these genes have been associated with various inflammatory diseases. The aim of this study was to investigate whether polymorphism in the IL-1RN and IL-1B genes are associated with GBC patients with and without gallstones. Polymorphisms within the IL-1RN 86-base pair VNTR (variable number tandem repeat) and IL-1B (-511C --> T) were genotyped using polymerase chain reaction (PCR) and PCR restriction fragment length polymorphism in 166 healthy subjects and 124 GBC patients. The frequency of the IL-1RN, VNTR 2/2 genotype was significantly higher in GBC patients [P = 0.017; odds ratio (OR) = 3.25; 95% confidence interval (CI) = 1.23-8.58]. CC genotype and 'C' allele of the -511IL-1B C --> T polymorphism also showed high risk for GBC (P = 0.033; OR = 3.36; 95%CI = 1.52-7.43, P = 0.047, OR = 1.41; 95%CI = 1.00-1.98, respectively). The higher cancer risk due to the IL-1RN, 2/2 genotype was observed in GBC patients with or without stones (P = 0.038; OR = 3.58; 95%CI = 1.08-11.65, P = 0.035; OR = 3.33; 95%CI = 1.08-10.61). Risk due to the CC genotype of IL-1B, however, was confined to GBC patients harboring gallstones (P = 0.0003; OR = 6.92; 95%CI = 2.65-18.03). The haplotype 1/C of IL-1RN and IL-1B was found to confer a significantly enhanced risk of GBC in cancer patients with gallstones (P = 0.022; OR = 2.19; 95%CI = 1.12-4.27), while higher risk resulting from 2/C haplotype was of borderline significance (P = 0.061; OR = 3.04; 95%CI = 0.95-9.70). Individuals with 1/C and 2/C haplotypes of IL-1RN VNTR and -511IL-1B C --> T polymorphisms were more susceptible to develop GBC with gallstones compared to healthy controls in north India.     

白细胞介素-1基因多态性与高血压易感性的研究

目的　观察白细胞介素 - 1(interleukin- 1,IL- 1)基因多态性在中国汉族人群中的分布及其与原发性高血压 (essential hypertension,EH)的关系 ,初步分析其基因型与 EH易感性的相关性。方法　应用聚合酶链反应和限制性片段长度多态性的方法 ,检测湖北省汉族 15 2例 EH患者和 16 8名正常对照者的IL- 1基因多态性 ,包括 IL- 1α(- 889C/ T)位点、IL- 1β(- 5 11C/ T)位点、IL- 1β( 395 3C/ T)位点、IL- 1Ra( 80 0 6 T/ C)位点多态性以及 IL- 1Ra第 2内含子可变数串联重复序列多态性。结果　IL- 1α(- 889C/ T)位点、IL- 1β( 395 3C/ T)位点、IL- 1Ra( 80 0 6 T/ C)位点多态性和 IL- 1Ra可变重复序列多态性在 EH组和正常人群中的分布差异无显著性 (P>0 .0 5 ) ,而 IL- 1β(- 5 11C/ T)位点多态性在两组人群中的分布差异存在显著性 (P<0 .0 5 ) ,携带 CT基因型罹患 EH的危险性可增加 2 .5 4倍。结论　 IL- 1β基因启动子区 - 5 11位点 C/ T多态性可能与 EH易感性存在相关关系。     

IL-1B and IL-6 gene polymorphisms encode significant risk for the development of recurrent aphthous stomatitis (RAS)

Recurrent aphthous stomatitis (RAS) is an, ulcerative condition of the mouth, with a polygenic mode of inheritance in which cytokines are thought to play an important role. Ninety-one RAS patients and 91 controls were genotyped for known IL-1A, IL-1B, IL-1RN and IL-6 gene polymorphisms. Inheritance of the G allele of the IL-1B -511 polymorphism was strongly associated with RAS (OR = 2.5, P < 0.00002), with increased numbers of G/G homozygotes (OR = 4.5, P < 0.0005). The G allele of IL-6 -174 also occurred more frequently in RAS (OR = 2.6, P < 0.0001) with greatest risk associated with G/G homozygosity (OR = 3.4, P < 0.0001). IL-1RN VNTR 1/1 homozygotes also occurred more frequently in RAS (OR = 2.0, P < 0.02). Inheritance of the G/G genotype of both IL-1B and IL-6 was a particularly strong predictor for RAS (OR = 8.5).     

Interleukin-1beta polymorphisms in Colombian patients with autoimmune rheumatic diseases

Interleukin-1 beta (IL-1beta) exerts a range of inflammatory and immunomodulatory activities that are important in host defense and autoimmune response. The IL-1beta gene, located on chromosome 2 (2q13), is polymorphic. The influence of its polymorphism on 355 patients with autoimmune rheumatic diseases was examined. To this effect, 172 patients with rheumatoid arthritis (RA), 114 with systemic lupus erythematosus (SLE), and 69 with primary Sjogren's syndrome (pSS) were studied. The control group consisted of 392 matched healthy individuals. Genotyping of IL-1beta single-nucleotide polymorphisms (SNPs) at positions -511 (C/T) and + 3953 (C/T) was performed by the polymerase chain reaction-restriction fragment length polymorphism technique. In addition, levels of IL-1beta were measured by immunoassay in supernatants of lipopolysaccharide (LPS)-stimulated and nonstimulated peripheral blood monocytes (PBM) obtained from 19 homozygous individuals for the three most common IL-1beta likely haplotypes, all belonging to the control group. Allele + 3953T was protective for SLE (odds ratio (OR) = 0.57, 95% confidence intervals (CI) = 0.34-0.88, P = 0.01) as was the haplotype -511C + 3953T (OR = 0.43, 95%CI = 0.25-0.74, pc = 0.006). The latter was associated with a lower LPS-stimulated-PBM IL-1beta secretion. Results suggest that IL-1beta polymorphism influences the susceptibility to acquire SLE in our population. The protective association might be explained by the observed inhibitory effect of IL-1beta + 3953T allele on the secretion of IL-1beta under inflammatory circumstances.     

汉族人群胆固醇酯转运蛋白基因和C反应蛋白基因多态性与非瓣膜性房颠的关联

目的 研究胆固醇酯转运蛋白(cholesteryl ester transfer protein,CETP)基因TaqIB、C反应蛋白(C reactive protein,CRP)基因1444C/T单核苷酸多态性(single nonucleotide polymorphism,SNP)与汉族非瓣膜性房颤的相关.方法 选取非瓣膜性房颤患者147例、病例对照147例,应用聚合酶链反应-限制性内切酶片段长度多态性鉴定基因型.结果 CETP TaqIB(P=0.005,OR=0.614,B=-0.488)和CRP 1444C/T(P=0.003,OR=2.428,β=0.887)遗传多态性在病例组和对照组间差异有统计学意义.根据性别分组:女性组,吸烟、CETP TaqIB、CRP 1444C/T病例对照间差异有统计学意义;男性组,体重指数和CETP Taq IB病例对照间差异有统计学意义.结论 中国汉族CETP TaqIB (B2等位基因为保护性因子)和CRP1444C/T(T等位基因为危险因子)多态性可能与非瓣膜性房颤相关.吸烟、CRP 1444C/T多态性可能增加女性非瓣膜性房颤遗传易感性;肥胖可能增加男性非瓣膜性房颤遗传易感性.