IL-6R基因单核苷酸多态性与肺结核易感性的相关性研究

目的探讨白细胞介素-6受体（Interleukin-6R,IL-6R）基因多态性与汉族人群肺结核发病的关系。方法分析深圳汉族人群中96例结核病患者和96名健康对照的IL-6R基因rs1552481、rs4379670、rs3887104、rs2229238位点的多态性,分析基因多态性与结核病易感性的关系。结果 IL-6R基因rs4379670位点,病例组TA基因型频率（25.3）明显低于对照组（39.8）（P〈0.05）,病例组T等位基因频率（14.7）明显低于对照组（24.2）（P〈0.05）;rs2229238位点,对照组TC基因型频率（25.3）明显低于病例组（37.9）（P〈0.05）,病例组T等位基因频率（14.7）也明显低于对照组（24.2）（P〈0.05）;其他两个位点病例组和对照组之间无明显差异。结论 IL-6R基因rs4379670位点AA型和rs2229238位点CC型可能与肺结核发病相关,两位点中等位基因T可能为保护性基因。     

白介素-23受体基因多态性与Graves病相关性研究

目的探讨白介素-23受体(IL-23R)基因rs2201841和rs10889677位点的遗传多态性和汉族人群Graves病易感性的关系。方法采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术,检测286例Graves病患者和291名正常对照者IL-23R基因rs2201841和rs10889677两个位点的基因情况,分析其基因型和基因频率与Graves病的关系。结果 IL-23R基因rs2201841和rs10889677位点等位基因和基因型频率分布比较Graves病组和正常对照组间差异均无统计学意义(P>0.05),且这两个位点多态性与发病的年龄及性别均无相关性。结论 IL-23R基因rs2201841和rs10889677两个位点多态性情况,可能不是中国南方汉族人群Graves病发病的危险因素。     

白细胞介素-1F7基因单核苷酸多态性对强直性脊柱炎易感性与病情的影响

目的 探讨白细胞介素(IL)-1F7基因rs3811047位点单核苷酸多态性(SNP)对强直性脊柱炎(AS)易感性和临床表现型的影响.方法 收集AS患者158例和同期健康献血人群181名,采用连接酶检测反应(LDR-PCR)方法检测IL-1F7基因rs3811047位点SNP,分析其等位基因频率及基因型频率在AS和对照组中的分布,并比较不同基因型AS患者间临床表现型的差别.结果 AS患者和对照人群中rs3811047位点A等位基因频率(12.03%,17.68%)和G等位基因频率(87.97%,82.32%)的分布差异有统计学意义(x2=4.2204,P=0.0399);AA,AG,GG基因型频率在AS中分别为0,24.05%,75.95%,与对照组分布(2.76%,29.83%,67.41%)相比,差异亦有统计学意义(x2=6.2675,P=0.043).AG基因型的AS患者中人类白细胞抗原(HLA)-B27阳性率为70.27%(26/37),明显低于GG基因型AS中HLA-B27的阳性率94.23%(98/104),差异有统计学意义(x2=2.168,P=0.030);其红细胞沉降率和C反应蛋白水平明显亦低于GG基因型组(t=2.971,P=0.013;t=3.300,P=0.001).结论 安徽籍汉族人群AS易感性与IL-1F7基因rs3811047位点SNP有关,其基因型对AS的临床表现型有影响,携带A等位基因患者的炎症表现轻于不携带A等位基因的患者.     

白介素27基因多态性与克罗恩病的相关研究

目的:探讨白介素27(IL-27)基因rs153109、rs17855750和rs181206位点的多态性与克罗恩病的相关性。方法:选取145例汉族克罗恩病患者和238名正常人作为观察对象,采用聚合酶链反应-连接酶检测进行基因分型,分析病例组和对照组的基因型频率及等位基因频率。结果:2组的基因型分布均符合Hardy-Weinberg平衡定律(P>0.05)。rs153109位点的C等位基因频率在2组之间的分布差异有统计学意义(45.86%比38.24%,P0.05);rs17855750和rs181206位点的基因型频率及等位基因频率在2组间的分布差异无统计学意义(P>0.05)。结论:IL-27基因多态性位点rs153109可能与克罗恩病易感性有关,未发现rs17855750和rs181206多态性与克罗恩病有关。     

白细胞介素-23R单核苷酸多态性与中国汉族人群强直性脊柱炎的关联分析

目的 研究白细胞介素(IL)-23R基因单核苷酸多态性(SNPs)与中国汉族人群强直性脊柱炎(AS)的相关性.方法 选取IL-23R基因SNPs位点rs11209026、rs1343151和rs11209032以及在物理距离上与它们相近的另外3个SNPs位点进行检测;采用聚合酶链反应(PCR)直接测序法进行基因分型;采用SPSS 13.0软件进行Hardy-Weinberg平衡、基因型和等位基因频率分析;采用SHEsis软件进行连锁不平衡和单倍型分析.结果 rs11209032位点的各基因型分布和rs6677188位点的各基因型与等位基因频率分布在病例组和对照组差异有统计学意义(P<0.01);rs6677188和rs11209032存在连锁不平衡关系(D'=0.925,r2=0.561);单倍型GAC和单倍型GTC在AS患者和健康对照者中的分布差异有统计学意义(p<0.01),其中单倍型GAC在AS患者高,而单倍型GTC在健康对照者高.结论 IL-23R基因单核苷酸多态性与中国汉族人群AS相关,IL-23R基因可能是AS的一个易感基因.     

CD247基因多态性与1型糖尿病的病例对照研究

采取294例中国汉族1型糖尿病患者与199例对照者外周静脉血,提取DNA,对CD247基因多态性位点rs17534481、rs12095738、rs2988276、rs6668182进行检测。结果显示,CD247基因的多态性位点rs17534481与中国汉族人群T1DM发病相关,该位点等位基因T是1型糖尿病发生的保护性...     

中国汉族人群NKX2-3基因上游区域rs10883365多态性与克罗恩病的相关性

背景:克罗恩病(CD)是一种复杂的多基因病,其病因和发病机制尚未完全阐明。最近研究显示NKX2-3基因上游区域rs10883365位点遗传变异与日本人群的CD发病呈正相关。目的:分析rs10883365位点多态性与中国汉族人群CD发病的相关性。方法:中国汉族CD患者和健康对照者各66例纳入研究,采用PCR-RFLP方法检测rs10883365位点基因型,并对酶切反应PCR产物行基因测序,比较两组间基因型和等位基因频率。结果:CD组rs10883365位点GG、AG和AA基因型频率分别为28.8%、47.0%和24.2%,G和A等位基因频率分别为52.3%和47.7%;而健康对照组相应基因型频率分别为27.3%、48.5%和24.2%,等位基因频率分别为51.5%和48.5%。两组间差异无统计学意义(P0.05)。结论:NKX2-3基因上游区域rs10883365位点多态性与中国汉族人群的CD发病无明显相关性。     

新疆地区维吾尔族和汉族晚期非小细胞肺癌患者三磷酸腺苷结合盒转运体C2基因多态性差异研究

目的探讨新疆地区维吾尔族和汉族晚期非小细胞肺癌(NSCLC)患者三磷酸腺苷结合盒转运体C2(ABCC2)基因多态性差异。方法选择2013年3月—2014年8月就诊于新疆医科大学附属肿瘤医院肺内一科的晚期NSCLC患者226例,其中维吾尔族110例(A组),汉族116例(B组),采用限制性片段长度多态性聚合酶链式反应检测ABCC2基因rs717620、rs2273697、rs3740066位点多态性。结果两组患者ABCC2基因rs717620位点基因型及等位基因分布频率比较,差异均有统计学意义(P0.05);而两组患者ABCC2基因rs2273697、rs3740066位点基因型及等位基因分布频率比较,差异均无统计学意义(P0.05)。两组腺癌患者ABCC2基因rs717620位点基因型和等位基因分布频率比较,差异有统计学意义(P0.05)。两组鳞癌患者ABCC2基因rs717620位点基因型和等位基因分布频率比较,差异无统计学意义(P0.05)。两组ⅢB、Ⅳ期患者ABCC2基因rs717620位点基因型和等位基因分布频率比较,差异均有统计学意义(P0.05)。结论新疆地区维吾尔族、汉族晚期NSCLC患者ABCC2基因rs2273697、rs3740066位点多态性无明显差异,而rs717620位点多态性存在差异。     

新疆维、汉两民族冠心病患者载脂蛋白 E基因启动子区多态性的关联性研究

目的：探讨新疆维、汉民族冠状动脉粥样硬化性心脏病（冠心病）患者载脂蛋白 E （ApoE）启动子区 rs405509、rs449647、rs7259620三个位点多态性的分布及其与冠心病之间的关联性。方法利用微测序（SNaPshot）单核苷酸多态性（SNP）分型技术,对201例冠心病患者（其中维族104例,汉族97例）rs405509、rs449647、rs7259620多态性进行基因分型。结果ApoE 基因启动子区 rs405509位点及 rs449647位点基因型及等位基因频率在两民族之间差异均有统计学意义（P ＜0．05）,rs7259620位点基因型及等位基因频率在两民族之间差异无统计学意义（P ＞0．05）。结论维、汉两民族冠心病患者 ApoE 启动子区 rs405509、rs449647位点等位基因多态性具有民族差异;rs7259620位点多态性无民族差异。     

肺表面活性蛋白D基因多态性与华中地区过敏性鼻炎遗传易感性

目的通过对华中地区过敏性鼻炎患者进行致敏基因筛查,从分子水平了解其遗传病因及特点。方法采集华中地区216例过敏性鼻炎患者[女性113例,男性103例,均是汉族成年人,平均年龄(34.3±14.38)]外周静脉血,提取基因组DNA,利用焦磷酸测序技术检测肺表面活性蛋白D(surfactant protein D,SP-D)单核苷酸多态性,并分析SP-D的rs721917、rs2243639及rs3088308位点等位基因频率。通过问卷调查和当场询问的方式询问每例患者的病史资料,包括家族史、母孕期有无致敏及用药史、出生时是否早产、生活环境、是否养宠物等,建立详尽的病史资料档案。结果过敏性鼻炎组rs721917位点CC基因型频率及等位基因C的频率显著高于对照组,基因型频率的相对风险分析发现,CC基因型患过敏性鼻炎的风险是TT型的2.847倍(比值比=2.847,95%可信区间为1.313~6.176),有C等位基因者患过敏性鼻炎的危险性增加了1.633倍(比值比=1.633,95%可信区间为1.153~2.397),提示rs721917位点等位基因C可能是中国汉族人群过敏性鼻炎的易感基因。rs2243639及rs3088308位点基因型频率和等位基因频率在过敏性鼻炎组和对照组间比较差异无统计学意义,这两个位点在过敏性鼻炎中不起关键性作用。结论 SP-D基因多态性是华中地区过敏性鼻炎群体患病的主要原因,rs721917是最常见的多态性位点,SP-D可能是影响过敏性鼻炎的重要候选基因。     

Replication of genetic association studies in aortic stenosis in adults

Only a handful of studies have attempted to unravel the genetic architecture of calcific aortic valve stenosis (AS). The goal of this study was to validate genes previously associated with AS. Seven genes were assessed: APOB, APOE, CTGF, IL10, PTH, TGFB1, and VDR. Each gene was tested for a comprehensive set of single-nucleotide polymorphisms (SNPs). SNPs were genotyped in 457 patients who underwent surgical aortic valve replacement, and allele frequencies were compared to 3,294 controls. A missense mutation in the APOB gene was significantly associated with AS (rs1042031, E4181K, p = 0.00001). A second SNP located 5.6 kilobases downstream of the APOB stop codon was also associated with the disease (rs6725189, p = 0.000013). Six SNPs surrounding the IL10 locus were strongly associated with AS (0.02 > p > 6.2 × 10?11). The most compelling association for IL10 was found with a promoter polymorphism (rs1800872) well known to regulate the production of the encoded anti-inflammatory cytokine. The frequency of the low-producing allele was greater in cases compared to controls (30% vs 20%, p = 6.2 × 10?11). SNPs in PTH, TGFB1, and VDR had nominal p values <0.05 but did not resist Bonferroni correction. In conclusion, this study suggests that subjects carrying specific polymorphisms in the IL10 and APOB genes are at higher risk for developing AS.     

Interleukin-23 receptor genetic polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis

Up to now, many publications have evaluated the correlation between IL-23R polymorphisms and ankylosing spondylitis with conflicting results. We perform this meta-analysis to collect all the relevant studies up to date to further clarify the association of IL-23R polymorphisms with AS. Relevant published data were retrieved through Medline, PubMed, Embase, Web of Science, CNKI, Chinese BioMedical Literature Database on disc, and the statistical analysis was conducted using Stata 11.0. (1) A total of 11 literatures, including 13 population samples, were studied. (2) The allele A frequency of rs11209032 was higher in the AS group than in the controls (A vs. G: OR = 1.173, 95% CI = 1.107-1.243, P < 0.001). (3) The allele A of rs1004819 was higher in the AS group than in the controls in both all-pooled population (A vs. G: OR = 1.147, 95% CI = 1.022-1.287, P = 0.02) and Europe-pooled population (A vs. G: OR = 1.199, 95% CI = 1.007-1.429, P = 0.042). (4) The allele frequency T of rs1343151, G of rs10489629, and A of rs11209026 was lower in the AS group than in the controls. (5) No significant differences were found in allele frequency of rs10889677 polymorphism between cases and controls by random effects model. We concluded that the genetic susceptibility for AS is associated with the IL-23R gene polymorphisms. The protective SNPs include rs1343151, rs10489629, and rs11209026 while rs1004819 and rs11209032 may be the susceptibility SNPs.     

Association of IL-1R2 genetic polymorphisms with the susceptibility of ankylosing spondylitis in Northern Chinese Han population

Objectives. Previous Genome-wide association studies (GWAS) have demonstrated Interleukin-1 receptor 2 (IL-1R2) was strongly associated with susceptibility to ankylosing spondylitis (AS). The aim of this study was to replicate the association of IL-1R2 single-nucleotide polymorphisms (SNPs) with AS in the northern Han Chinese.

Methods. A total of 490 AS patients and 580 matched healthy controls were enrolled in our study. Six tagSNPs in IL-1R2: rs4851526, rs4851527, rs2302589, rs2072476, rs2072472, and rs2310173 were selected and genotyped by Taqman SNP genotyping method. The differences of allele and genotype frequencies were analyzed by use of PLINK 1.07.

Results. Logistic regression analysis showed that one tagSNP rs2302589 in IL-1R2 was significantly associated with AS susceptibility (OR 0.77, 95% CI = 0.64–0.92, P = 0.005). However, no significant association was observed on the other tagSNPs for AS risk. The haplotype analysis further showed that the haplotype “GCGCGG” of IL-1R2 was also associated with the increased risk of AS (OR 1.362, P = 0.0207).

Conclusions. This is the first detection that the genetic variation rs2302589 in IL-1R2 gene was associated with AS in Northern Han Chinese. This result confirmed that IL-1R2 may be genetic biomarker for susceptibility to AS.     

Association between the interleukin-1 family gene cluster and psoriatic arthritis

OBJECTIVE: The interleukin-1 (IL-1) cytokine elicits a wide variety of biologic activities that initiate and promote an inflammatory response. The loci in the IL1 gene cluster have recently been associated with ankylosing spondylitis (AS). Since there is clinical and immunologic overlap between psoriatic arthritis (PsA) and AS, we wanted to examine the association between a panel of single-nucleotide polymorphisms (SNPs) in the IL1 gene family cluster and chromosome 2q12-13 in a PsA cohort. METHODS: Two hundred twelve PsA patients and 150 ethnically matched controls were genotyped with 11 SNPs in IL1A, 9 SNPs in IL1B, and 9 SNPs in IL1F5-10. Univariate analyses of the 29 single markers and short intragenic haplotypes identified several associated regions. Seventeen markers of interest were noted and further investigated to determine which markers or short haplotypes independently predict case-control status, using a stepwise logistic model. RESULTS; Two regions contributing independently to risk of disease in PsA were noted: a region spanned by markers rs3783547, rs3783543, and rs17561 in IL1A, and a region near the end of IL1B, through IL1F7, IL1F8, and into IL1F10. The best model contained markers rs3811047, rs1562304, and rs3811058, and 1 haplotype constructed from the 3 markers in region 1, with a likelihood ratio of 25.34 (4 degrees of freedom). CONCLUSION: The IL1 locus appears to be a high-priority susceptibility locus in PsA, with at least 2 independent regions that confer increased risk.     

白细胞介素-23R单核苷酸多态性rs1343151与强直性脊柱炎的相关性研究

目的 探讨白细胞介素(IL)-23R基因单核苷酸多态性rs1343151与强直性脊柱炎(AS)的关系.方法 常规方法对104例As患者和95名健康人群外周血进行基因组DNA抽提,用TaqMan探针对rs1343151位点进行聚合酶链反应(PCR)分型.应用x2检验统计分析病例组和对照组等位基因频率、等位基因型频率及其患病风险.结果 rs1343151位点各基凶型频率在AS组中分别为90.4%(C/C)、9.6%(C/T),在对照组中分别为91.6%(C/C)、8.4%(C/T),2组之间的基因型频率分布差异无统计学意义(x2=0.086,P>0.05);2组C和T等位基凶频率差异无统计学意义(x2=0.082,P>0.05).结论 IL-23R单核苷酸多态性rs1343151不是影响中国人群AS患者致病的主要因素.     

白细胞介素-23R单核苷酸多态性rs1343151与强直性脊柱炎的相关性研究

目的 探讨白细胞介素(IL)-23R基因单核苷酸多态性rs1343151与强直性脊柱炎(AS)的关系.方法 常规方法对104例As患者和95名健康人群外周血进行基因组DNA抽提,用TaqMan探针对rs1343151位点进行聚合酶链反应(PCR)分型.应用x2检验统计分析病例组和对照组等位基因频率、等位基因型频率及其患病风险.结果 rs1343151位点各基凶型频率在AS组中分别为90.4%(C/C)、9.6%(C/T),在对照组中分别为91.6%(C/C)、8.4%(C/T),2组之间的基因型频率分布差异无统计学意义(x2=0.086,P>0.05);2组C和T等位基凶频率差异无统计学意义(x2=0.082,P>0.05).结论 IL-23R单核苷酸多态性rs1343151不是影响中国人群AS患者致病的主要因素.     

白细胞介素-23R单核苷酸多态性rs1343151与强直性脊柱炎的相关性研究

目的 探讨白细胞介素(IL)-23R基因单核苷酸多态性rs1343151与强直性脊柱炎(AS)的关系.方法 常规方法对104例As患者和95名健康人群外周血进行基因组DNA抽提,用TaqMan探针对rs1343151位点进行聚合酶链反应(PCR)分型.应用x2检验统计分析病例组和对照组等位基因频率、等位基因型频率及其患病风险.结果 rs1343151位点各基凶型频率在AS组中分别为90.4%(C/C)、9.6%(C/T),在对照组中分别为91.6%(C/C)、8.4%(C/T),2组之间的基因型频率分布差异无统计学意义(x2=0.086,P>0.05);2组C和T等位基凶频率差异无统计学意义(x2=0.082,P>0.05).结论 IL-23R单核苷酸多态性rs1343151不是影响中国人群AS患者致病的主要因素.     

白细胞介素-23R单核苷酸多态性rs1343151与强直性脊柱炎的相关性研究

目的 探讨白细胞介素(IL)-23R基因单核苷酸多态性rs1343151与强直性脊柱炎(AS)的关系.方法 常规方法对104例As患者和95名健康人群外周血进行基因组DNA抽提,用TaqMan探针对rs1343151位点进行聚合酶链反应(PCR)分型.应用x2检验统计分析病例组和对照组等位基因频率、等位基因型频率及其患病风险.结果 rs1343151位点各基凶型频率在AS组中分别为90.4%(C/C)、9.6%(C/T),在对照组中分别为91.6%(C/C)、8.4%(C/T),2组之间的基因型频率分布差异无统计学意义(x2=0.086,P>0.05);2组C和T等位基凶频率差异无统计学意义(x2=0.082,P>0.05).结论 IL-23R单核苷酸多态性rs1343151不是影响中国人群AS患者致病的主要因素.