白细胞介素10-819C／T、-1082G／A基因多态性与脑梗死的关系

目的探讨白细胞介素10（IL-10）基因多态性与脑梗死（CI）的关系。方法采用突变错配扩增技术,结合血液生化和血压等临床资料,对189例急性CI患者（CI组）和92例非急性CI者（对照组）的IL-10启动子1082G／A和819C／T基因的单核苷酸多态性（SNP）位点与CI的关系进行研究。结果IL-10启动子1082G／A和819C／T的CI组的基因型和等位基因频率分布与对照组相比差异均无统计学意义（P〉0．05）;CI组的IL-10启动子1082AA型的收缩压明显高于（AG＋GG）型（P〈0．05）,且AA型的收缩压、舒张压、血糖均明显高于对照组（P〈0．05）,（AG＋GG）型的高密度脂蛋白胆固醇（HDL—C）明显低于对照组（P〈0．05）;CI组的IL-10启动子819CC型的收缩压、舒张压均明显高于TT型和CT型（P〈0．05）,且TT型的收缩压、舒张压、血糖均明显高于对照组（P〈0．05）,CT型的HDL—C明显低于对照组（P〈0．05）,CC型的收缩压、舒张压明显高于对照组（P〈0．05）。结论IL．10基因启动子1082G／A和819C／T的多态性与CI发生无明显相关,但与CI的发展和预后有-定关联。     

IL-10基因位点多态性与ACS的相关性分析

[目的]探讨急性冠脉综合征(ACS)与白介素-10(IL-10)基因位点4259A/G、-1082G/A、-592C/A、-819C/T多态性分布的相关性.[方法]选择2010年5月至2015年9月常州市溧阳人民医院心内科和武进人民医院心内科收治的ACS患者471例(观察组),选择同期两个医院心内科收治的197例非ACS者为对照组,采用基因测序技术检测所有标本IL-10基因型,分析其与ACS发病相关危险因素.[结果]两组在年龄、吸烟、合并糖尿病、血清TC、TG、LDL-C方面比较,差异均具有统计学意义(P<0.05).在两组研究对象中,IL-104259A/G位点仅发现AA一种基因型;但是在两组研究对象中发现IL-10-1082G/A位点上有GG、AG、AA三种基因型、IL-10-582C/A位点上有CC、AC和AA三种基因型、IL-10-819C/T位点上有CC、CT和TT三种基因型.与对照组作比较后,尚未发现各种基因型之间分布频率、等位基因分布频率有统计学差异;对每一种基因型行引起ACS发病传统危险因素多元Logistic回归分析显示IL-10基因-592C/A、-819C/T、-1082G/A基因型与ACS的发病无相关性.[结论]在常州地区心血管疾病住院患者IL-10基因4259A/G仅有AA一种基因型;IL-10基因-1082G/A、-592C/A、-819C/T具有多态性,但其多态性分布与本地区汉族人群ACS的发病无相关性.     

白细胞介素10启动子基因多态性与强直性脊柱炎的易感性

背景：在强直性脊柱炎患者中,基因多态性很可能影响细胞因子的分泌模式.目的：在中国胶东半岛地区汉族人强直性脊柱炎患者中,探讨白细胞介素10启动子基因的单核苷酸多态性和单体型与强直性脊柱炎易感性的相关性.方法：用酶联免疫吸附测定法测定血清中白细胞介素10的水平,用聚合酶链反应和限制性片段长度多态性方法对白细胞介素10基因启动子中的-1082A/G、-819C/T和-592C/A位点的单核苷酸多态性进行分析.结果与结论：收集了110例强直性脊柱炎患者和120例同种族的健康人,强直性脊柱炎患者组血清中白细胞介素10水平明显高于健康对照组（Z=10.9,P 〈0.001）,单核苷酸多态性分析显示：在强直性脊柱炎患者组和健康对照组之间-592A/C位点基因型分布和等位基因频率没有明显差异,该研究中没有发现-1082GG基因型.强直性脊柱炎患者-1082G等位基因频率较健康对照组增加（P=0.047）,通过logistic回归分析,强直性脊柱炎患者-1082AG 基因型的比值比为1.993（95%CI：1.046-3.800,P=0.034）,而-819CC基因型的比值比为3.125（95%CI：1.246-7.836,P=0.015）,此外,单体型分析显示与ATA 基因型相比,GCC基因型显著增加了患强直性脊柱炎的风险（OR=2.19,95%CI：1.13-4.26,P=0.020）.结果表明白细胞介素10的基因单体型与中国胶东半岛地区汉族人强直性脊柱炎的易感因素相关.     

白介素10基因多态性与术后脓毒症发生发展的相关研究

目的研究白介素10（IL-10）基因启动子区域中IL-10-592、IL-10-819、IL-101-082基因多态性与术后严重脓毒症易感性及其预后的相关性。方法采用聚合酶链反应（PCR）结合RsaⅠ、MaeⅢ、MnlⅠ限制性内切酶酶切分析法检测116例术后并发严重脓毒症患者和141例健康献血员（对照组）的IL-10-592、IL-10-819、IL-10-1082基因多态性。结果IL-10-1082等位基因1的频率在脓毒症组为59.9％,对照组为50.4%（P<0.05）;IL-10-1082基因型分布频率在脓毒症组和对照组间有显著性差异（P<0.05）;而IL-10-592、IL-10-819等位基因频率及基因型频率在脓毒症组和对照组间均无显著性差异（P均>0.05）;IL-10-592、IL-10-819、IL-10-1082等位基因频率及基因型频率在死亡的与存活的脓毒症患者间均无显著性差异（P均>0.05）。结论IL-10-1082基因多态性与术后严重脓毒症的易感性有关,与其预后不相关;而IL-10-592、IL-10-819基因多态性与术后严重脓毒症的易感性及预后均不相关。     

血清IL-10水平及其基因-1082A/G位点单核苷酸多态性与胃窦癌恶病质的关系

目的探讨胃窦癌病人血清细胞因子白细胞介素10（IL-10）水平及-1082A/G位点单核苷酸多态性与恶病质发生的关系。方法采用放射免疫学方法检测150例胃窦癌病人及135例健康人（对照组）血清IL-10水平。用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测胃窦癌病人IL-10基因-1082A/G位点单核苷酸多态性。结果胃窦癌病人血清IL-10水平较对照组显著升高（Z=-11.862,P〈0.001）,胃窦癌Ⅲ、Ⅳ期病人血清IL-10水平较Ⅰ、Ⅱ期显著升高（Z=-10.028,P〈0.001）。胃窦癌恶病质病人血清IL-10水平较非恶病质病人显著升高（Z=-10.369,P〈0.001）。Logistic回归分析显示,IL-10为恶病质发生的高风险性因素（OR=1.559,95%CI=1.299-1.870,P〈0.001）。单核苷酸多态性分析显示,胃窦癌恶病质病人IL-10基因-1082G等位基因频率较非恶病质病人显著升高（χ2=3.953,P〈0.05）。胃窦癌恶病质病人IL-10基因-1082AG基因型频率较非恶病质病人显著升高（χ2=4.511,P〈0.05）。Logistic回归分析显示,校正肿瘤分期后,IL-10基因-1082AG基因型为胃窦癌恶病质的高风险性因素（OR=2.295,95%CI=1.029-5.117,P〈0.05）。结论血清IL-10水平高及IL-10基因-1082AG基因型与胃窦癌病人恶病质的发生具有相关性。     

广东汉族人群类风湿性关节炎患者IL-18启动子基因多态性的研究

目的：探讨广东汉族人群白细胞介素-18（IL-18）基因启动子单核苷酸多态性及其与类风湿性关节炎（RA）易感性间的关系。方法：应用序列特异性引物-聚合酶链反应技术（PCR-SSP）检测120例RA患者和168名健康体检者的IL-18基因启动子-607C／A和-137G／C单核苷酸多态性。结果：健康对照组和RA患者组IL018基因启动子-607C／A住点存在CC、CA和AA型3种基因型,-137G／C位点存在GG、GC和CC型3种基因型。-607AA基因型在健康对照组中分布频率显著高于RA患者组（x^2=18,87,P〈0．05）,而CC型在RA患者组中的分布频率明显高于健康对照组（x^2=4．34,P〈0．05）;等位基因C和A分布频率差异也有显著性（x^2=12,91,P〈0．05）。-137G／C位点的基因型分布频率无统计学意义,但等位基因G和C分布频率在两组中差异有显著性（x^2=4,36,P〈0．05）。结论：广东汉族人群IL-18基因启动子-607C／A和-137G／C单核苷酸多态性与RA可能相关。     

高分辨率熔解曲线技术检测冠心病患者IL-6及其受体基因单核苷酸多态性

摘要：目的：通过高分辨率熔解曲线(HRM)技术检测IL-6及其受体基因单核苷酸多态性(single nucleotide polymorphism,SNP),探讨IL-6及其受体基因SNP与冠心病(CHD)的相关性。 方法：用HRM曲线技术检测231例CHD患者和275例健康人IL-6及其受体基因6个SNP位点（IL-6-572C/G、IL-6-597A/G、IL-6-174C/G、IL-6-R-183A/G、IL-6-R-exon1C/A和IL-6-R-exon2A/T）,分析其与CHD的相关性。 结果：CHD组和健康人对照组IL-6-572C/G、IL-6-597A/G、IL-6-R-exon1C/A和IL-6-R-exon2A/T基因频率、基因型频率差异有统计学意义(P均＜0.05)。IL-6-572CC、IL-6-597GA和IL-6-R-exon2AT基因型能增加发生CHD的风险（OR值分别为1.935、2.651、1.809）;IL-6-R-exon1CC基因型能降低CHD的发生风险（OR=0.514）。 结论：IL-6-572C/G、IL-6-597A/G、IL-6-R-exon1C/A和IL-6-R-exon2A/T与西北地区人群CHD易感性相关。     

白细胞介素-18基因多态性与慢性乙型病毒性肝炎病毒感染关系的研究

目的 探讨白介素-18(IL-18)基因启动子区-137G/C(rs187238)和-607C/A(rs1946518)单核苷酸多态性(SNP)与慢性乙型病毒性肝炎(乙肝)病毒感染之间的关系。 方法 选取2007年3月至2010年10月期间就诊于桂林市疾病预防控制中心和桂林医学院附属医院的慢性乙肝患者作为病例组,共264例;另外选取同期在上述两个单位进行体检,均无慢性乙肝病史的健康者作为对照组,共300例。采用序列特异性引物-聚合酶链反应技术(SSP-PCR),检测上述二组研究对象IL-18基因启动子-137G/C(rs187238)、-607C/A(rs1946518)单核苷酸多态性位点基因型,分析病例组和对照组基因型和等位基因频率分布。 结果 病例组IL-18基因多态性位点rs1946518的基因型和等位基因的频率与对照组相比差异无统计学意义(P0.05)。但是,病例组IL-18基因SNP位点rs187238 G等位基因的频率高于对照组(OR=1.353,95%CI:1.009~1.815,P=0.043)。携带rs187238 GG基因型的患者发生慢性乙肝的风险较高(OR=1.629,95%CI:1.152~2.305,P=0.006)。分层分析发现,rs187238位点上GC基因型和C等位基因的频率与慢性乙肝的关联在乙肝e抗原(HBeAg)阳性组的患者中更加显著(P=0.022,P=0.011)。 结论 IL-18基因启动子区-137G/C(rs187238)多态性与慢性乙肝易感性具有相关性,而且,rs187238位点上GC基因型和C等位基因的频率与HBeAg阳性的慢性乙肝患者具有相关性。     

我国广东地区汉族人群类风湿性关节炎患者 IL-6启动子基因多态性的研究

目的了解我国广东地区汉族人群白细胞介素-6（IL-6）基因启动子-572C/G和-174G/C位点单核苷酸多态性对类风湿性关节炎（RA）的影响。方法应用序列特异性引物-聚合酶链反应（PCR-SSP）检测168名体检健康者和120例RA患者的IL-6基因启动子-572和-174位点的基因型。结果我国广东地区汉族人群IL-6基因启动子-572位点存在C→G的突变,其基因型和等位基因频率分布在RA组和对照组比较差异有统计学意义（基因型频率：2χ=16.14,P=0.003;等位基因频率：2χ=16.71,P〈0.001）,其G等位基因在RA患者中明显低于健康对照组[比值比（OR）=0.36,95%可信区间（CI）：0.21-0.61];-174位点存在G→C的突变,其基因型和等位基因分布频率在两组间差异亦有统计学意义（基因型频率：2χ=25.75,P〈0.01;等位基因频率：2χ=25.99,P〈0.01）,其C等位基因在RA组明显高于健康对照组（OR=2.26,95%CI：1.91-2.68）。结论我国广东地区汉族人群IL-6基因启动子存在-572C/G与-174G/C的单核苷酸多态性,且这2个位点多态性与RA有关,其中IL-6-572位点的G等位基因可能对RA有保护作用,而IL-6-174位点等位基因C可能与RA发病的易感性有关。     

白细胞介素10基因启动子多态性与多发性硬化发病关系的meta分析

目的 探讨白细胞介素10基因启动子多态性-1082 G/A、-819 C/T和-592 C/A与多发性硬化(multiple sclerosis,MS)发病的关系.方法 在PubMed、EBSCO、Ovid、EMbase、CNKI、万方科技与维普数据库中系统性检索1990年1月1日至2015年1月31日发表的相关文献,在等位基因、显性遗传、隐性遗传和共显性遗传4类模型下,合并OR值和95％ CI,并行敏感性分析和发表偏倚评估.结果 共纳入10篇文献,病例组1 483例,对照组1 796例.在所有模型中,-1082、-819位点基因分布在MS组与对照组间差异无统计学意义.但隐性遗传模型(AAvs GA+GG)显示复发缓解型+继发进展型MS亚组与对照组在-1082位点上的基因分布差异有统计学意义(OR=0.729,95％CI=0.534～0.995,P＜0.05).等位基因模型(A vs C)(OR=0.825,95％CI =0.683～0.998,P＜0.05)、显性遗传模型(AA+CA vs CC)(OR=0.764,95％CI=0.605～0.966,P＜0.05)和杂合子模型(CA vs CC)(OR=0.750,95％CI=0.585～0.960,P＜0.05)表明MS组与对照组在-592位点上的基因分布差异有统计学意义.敏感性分析显示,除-819位点杂合子模型和-592位点等位基因模型结果 不稳健外,3个位点各模型均稳健.未发现明显发表偏倚.结论 -1082位点AA基因型对复发缓解型及继发进展型MS的发生具有保护作用;-592位点CA基因型对MS的发生具有保护作用,而CC基因型携带者更易发生MS;-819位点CT基因型相对于CC基因型携带者可能不易发生MS.     

Additive effect of interleukin-6 and C-reactive protein (CRP) single nucleotide polymorphism on serum CRP concentration and other cardiovascular risk factors

BACKGROUND: Serum C-reactive protein (CRP) levels, closely associated with cardiovascular disease (CVD) risk are influenced by CRP or interleukin-6 (IL-6) single nucleotide polymorphism (SNPs). However, it is still controversial. Therefore, we investigated the association of IL-6/CRP SNPs and serum CRP levels or other CVD risk factors in healthy adult Korean men. METHODS: In healthy adult men (age>or=20 years, n=677), we genotyped IL-6-572C>G and CRP SNPs (-717G>A, 1444C>T, 2147A>G) and measured anthropometric parameters, lipid profile, serum levels of CRP and IL-6 and insulin resistance. RESULTS: At IL-6-572C>G (n=677), subjects with G/G genotype (n=42) showed higher concentrations of CRP (P=0.027) and IL-6 (P=0.028) as compared with C allele carriers after age-adjustment (C/C: n=371, C/G: n=264). Fasting insulin and homeostatis model assessment insulin resistance (HOMA-IR) were also higher in G/G genotype. However, there were no significant differences in other metabolic biomarkers. Among 677 study subjects, 676 were genotyped at CRP-717G>A (G/G: n=513, G/A: n=150, A/A: n=13), 672 at CRP+1444C>T (C/C: n=580, C/T: n=85, T/T: n=7), and 668 at CRP+2147A>G (A/A: n=273, A/G: n=296, G/G: n=99). There were no significant differences in CRP concentrations and other markers related to CVD risk according to each CRP SNP genotype. However, we could find the additive gene-gene interaction between IL-6-572C>G and CRP SNPs on CRP concentration; subjects with the 'G/G' at IL-6-572 showed the highest CRP levels when they have variant allele at CRP SNPs after adjusted for age, body mass index, cigarette smoking and alcohol drinking (-717G>A: F=7.806, P=0.005; CRP+1444C>T: F=8.398, P=0.004; and CRP+2147A>G: F=7.564, P=0.006, respectively) Particularly, G allele carriers at CRP+2147A>G in subjects with IL-6-572G/G showed highest HOMA-IR (F=9.092, P=0.003). CONCLUSION: The present data showed that serum CRP levels and other CVD risk factors appeared more influenced by IL-6-572C>G rather than CRP SNPs (-717G>A, 1444C>T, and 2147A>G), however CRP levels and insulin resistance may be additively affected by IL-6-572 and CRP SNP, particularly when subjects with G/G genotype at IL-6-572 have allele variant at CRP SNPs.     

Genetic variation in interleukin-10 gene and risk of oral cancer

BACKGROUND: Common genetic variants in immune and inflammatory response genes can affect the risk of developing oral cancer. Interleukin-10 (IL-10) is an immunosuppressive cytokine which may facilitate development of cancer by supporting tumor escape from the immune response. Inter-individual variations in IL-10 production were genetically contributed to polymorphisms within IL-10 promoter region. We determined whether single nucleotide polymorphisms (SNPs) at positions -1082 A/G (rs1800870), -819 T/C (rs1800871) and -592 A/C (rs1800872) in the IL-10 gene promoter were involved in predisposing an individual to oral cancer. METHODS: We analyzed 3 SNPS of IL-10 gene promoter in 280 patients with oral cancer and 300 age and sex matched controls in a Chinese population, using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy. RESULTS: There were significant differences in the genotype and allele distribution of -1082 A/G (rs1800870) polymorphism of the IL-10 gene among cases and controls. The -1082 G alleles carriers were associated with a significantly increased risk of oral cancer compared with the non-carriers (OR=1.821, 95% CI, 1.329-2.496, P<0.001). Haplotype analysis revealed that the GCC haplotype (defined by SNPs at positions -1082, -819 and -592) of IL-10 gene conveys the highest risk for oral cancer compared with the ATA haplotype (OR=1.716; 95% CI, 1.230-2.395; P=0.001). CONCLUSION: IL-10 gene promoter -1082 A/G (rs1800870) polymorphism, and its haplotype are significantly associated with the risk of oral cancer. Our data suggests that IL-10 gene plays an important role in the development of oral cancer.     

Dominance of high-producing interleukin 6 and low-producing interleukin 10 and interferon gamma alleles in glucose-6-phosphate dehydrogenase-deficient trauma patients

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a condition associated with malaria resistance, is a common genetic polymorphism. Decreased interleukin (IL)-10 production was demonstrated in vivo and in vitro in the African and Mediterranean forms of G6PD deficiencies. We hypothesized that low-producing IL-10 alleles are more abundant in the G6PD-deficient than nondeficient population. One hundred eleven men with African American ancestry were tested for G6PD deficiency (Type A-202/376) and for the cytokine gene promoter polymorphisms of IL-10 (-1082 G/A, -819 T/C, and -592 A/C), tumor necrosis factor (TNF)-alpha (-308 G/A), transforming growth factor (TGF)-beta1 (C/T codon 10 and C/G codon 25), IL-6 (-174 G/C), and interferon (IFN)-gamma (+874 A/T). There were no differences in the allele frequencies for TNF-alpha, IL-6, or TGF-beta1 between the G6PD-deficient and nondeficient population. In contrast, the low-producing IL-10 alleles (-592A) and low-producing IFN-gamma (+874A) allele frequencies were greater in G6PD-deficient than nondeficient samples (P = 0.035 and 0.009). Seventy-one percent of G6PD-deficient and 50% of nondeficient samples carried the high-producing IL-6(G) allele with low-producing IL-10(A) allele (P = 0.03). Furthermore, 95% of deficient and 81% of nondeficient samples carried the IL-6(G) allele together with low-producing IFN-gamma(A) allele (P = 0.017). These investigations indicate a predominant presence of high-producing IL-6 alleles together with low-producing IL-10 and IFN-gamma alleles in individuals with ancestry from malaria-endemic regions. The frequency of low-producing IL-10 genotypes is greater in the G6PD-deficient compared with nondeficient patients. The fact that these genetic differences are preserved in the current African American G6PD-deficient population indicates their potential role in pathophysiological processes in the absence of the selective pressure caused by tropical diseases.     

Vascular endothelial growth factor (VEGF) polymorphisms in HELLP syndrome patients determined by quantitative real-time PCR and melting curve analyses

BACKGROUND: The vascular endothelial growth factor (VEGF) has a critical role in vasculogenesis and vascular permeability in several diseases including preeclampsia. There are at least 30 single nucleotide polymorphic (SNP) places on this gene. VEGF G+405C, C-2578A and C-460T SNPs are known to be related to VEGF production. VEGF polymorphisms were studied in preeclampsia, but not in HELLP syndrome. Therefore, we decided to determine the allele and genotype frequencies of VEGF G+405C, C-460T and C-2578A SNPs in healthy pregnant women and HELLP syndrome patients. METHODS: The authors introduced a quantitative real-time PCR method for the determination of the three VEGF SNPs. Blood samples were collected from 71 HELLP syndrome patients and 93 healthy controls. DNA was isolated by using silica adsorption method. The SNPs were determined by quantitative real-time PCR and melting curve analysis using LightCycler. RESULTS: There were significant differences in the allele and genotype frequencies of VEGF C-460T SNP between the two study groups. The T allele was present in 71.1% in the HELLP group, while in 53.8% in the controls (p=0.0014). The TT genotype occurred significantly more frequently in the HELLP group than in the control group (45.1% vs. 21.5%; p (for genotype frequencies)=0.0011). The TT genotype carriers had an increased risk of HELLP syndrome, which was independent of maternal age and primiparity (adjusted odds ratio (OR)=3.03, 95% confidence interval (CI)=1.51-6.08; p=0.002). Although the VEGF G+405C allele and genotype distributions did not differ significantly between the two groups, the CC genotype carriers were also found to have an increased risk for HELLP syndrome after adjustment for maternal age and primiparity (adjusted OR=3.67, 95% CI=1.05-12.75; p=0.041). The VEGF C-2578A SNP was not associated with HELLP syndrome. CONCLUSIONS: The quantitative real-time PCR combined with melting curve analyses is a fast and reliable method for the determination of VEGF SNPs. We found that the VEGF -460TT and +405CC genotype carriers have an increased risk of HELLP syndrome. As these two SNPs were previously observed to be related to production of the VEGF protein, we suppose that these VEGF polymorphisms -- interacting with other genetic and environmental factors - could play a role in the development of HELLP syndrome.     

肝脂酶基因启动子多态性与连锁不平衡分析

目的:探讨肝脂酶(hepatic lipase,HL)基因启动子-250G/A、-514C/T、-710T/C和-763A/G4个位点单核苷酸多态性(single nucleotide polymorphisms,SNPs)的分布特征及连锁不平衡关系。方法:应用聚合酶链反应-限制性内切酶片段长度多态性技术,对112名三酰甘油(triglyceride,TG)正常者、103例高三酰甘油血症(hypertriglyceri-demics,HTG)患者的HL基因型和等位基因的分布频率进行分析,运用群体数理遗传学方法分析HL启动子4个基因位点SNP的遗传平衡吻合度及相互间连锁不平衡关系。结果:在HTG组中,-250A和-514T的等位基因频率及基因型频率均显著大于TG正常组(P0.05);-763A/G位点的基因型频率及等位基因频率在两组中则均无差异(P>0.05)。4个SNP相互间均呈强连锁不平衡。对启动子区3个SNP位点两两组合的单倍体型频率分析表明,在HTG和TG正常者中也存在显著差异(P     

New polymorphisms in the interleukin-10 gene--relationships to myocardial infarction

BACKGROUND: Interleukin-10 (IL-10) is a cytokine with anti-inflammatory and B-cell-stimulating activity. IL-10 is expressed in human atherosclerotic plaques and recent studies have shown the involvement of IL-10 in the atherosclerotic process. Therefore, we hypothesized that polymorphisms in the IL-10 gene might be associated with a predisposition to coronary heart disease. MATERIALS AND METHODS: To identify new polymorphisms in the human IL-10 gene, the entire coding sequence and the 3' flanking sequence of the gene were screened by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCR) followed by sequencing. The polymorphisms identified, and three others which have been previously described in the promoter region of the IL-10 gene (G-1082A, C-819T, C-592A), were then investigated in the ECTIM Study, a large population-based case-control study of myocardial infarction. RESULTS: Four new polymorphisms were identified: one in exon 1 (G+78/ex1A), which predicts a Glycine to Arginine change at position 15 in the putative signal peptide of the protein, two in the intron 3 (C+19/in3T, T+953/in3C) and one in the 3' flanking region (C+117T). All the IL-10 polymorphisms were in complete or nearly complete pairwise linkage disequilibrium. No case-control difference was found in genotype or allele frequencies for any of the polymorphisms. CONCLUSIONS: Our results suggest that IL-10 polymorphisms are not associated with an increased risk of myocardial infarction.     

Distinct alleles of mannose-binding lectin (MBL) and surfactant proteins A (SP-A) in patients with chronic cavitary pulmonary aspergillosis and allergic bronchopulmonary aspergillosis.

BACKGROUND: Distinct host immune status predisposes to different forms of pulmonary aspergillosis. METHODS: Patients with chronic cavitary pulmonary aspergillosis (CCPA; n=15) or allergic bronchopulmonary aspergillosis (ABPA; n=7) of Caucasian origin were screened for single nucleotide polymorphisms (SNPs) in the collagen region of surfactant proteins A1 (SP-A1) and A2 (SP-A2) and mannose binding lectin (MBL). RESULTS: The T allele at T1492C and G allele at G1649C of SP-A2 were observed at slightly higher frequencies in ABPA patients (86% and 93%) than in controls (63% and 83%), and the C alleles at position 1492 and 1649 were found in higher frequencies in CCPA patients (33% and 25%) than in ABPA patients (14% and 7%) (all p>0.05). However, the CC genotype at position 1649 of SP-A2 was significantly associated with CCPA (chi(2)=7.94; p(corr)< or =0.05). Similarly, ABPA patients showed a higher frequency of the TT genotype (71%) at 1492 of SP-A2 than controls (43%) and CCPA patients (41%) (p>0.05). In the case of MBL, the T allele (OR=3.1, range 1.2-8.9; p< or =0.02) and CT genotype (chi(2)=6.54; p(corr)< or =0.05) at position 868 (codon 52) were significantly associated with CCPA, but not with ABPA. Further analysis of genotype combinations at position 1649 of SP-A2 and at 868 of MBL between patient groups showed that both CC/CC and CC/CT SP-A2/MBL were found only in CCPA patients, while GG/CT SP-A2/MBL was significantly higher in CCPA patients in comparison to ABPA patients (p< or =0.05). SNPs analysed in SP-A1 did not differ between cases and controls. CONCLUSIONS: Distinct alleles, genotypes and genotype combinations of SP-A2 and MBL may contribute to differential susceptibility of the host to CCPA or ABPA.