首页 | 本学科首页   官方微博 | 高级检索  
相似文献
 共查询到18条相似文献,搜索用时 218 毫秒
1.
目的:探讨白细胞介素-23受体(IL-23R)基因多态性与中国汉族人群银屑病易感性的关系。方法:在NCBI数据库上检索IL-23R的7个SNP位点(rs11209026、rs1004819、rs10489629、rs1343151、rs10889677、rs11209032、rs1495965)。从门诊病人中收集银屑病患者93例,选择健康献血员108例作为正常对照,检测共201例样品中7个SNP位点突变情况。多态性及其单倍型与银屑病相对危险度等数据处理均采用SPSS软件系统进行。结果:7个Tag SNP位点中有4个等位基因(rs1004819、rs1343151、rs10889677、rs1495965)频率在病例组和对照组之间的差异有统计学意义(P<0.01)。结论:IL-23R基因多态性与汉族人银屑病易感性有关联。其中4个SNP位点(rs1004819、rs1343151、rs10889677、rs1495965)与银屑病发病明显相关。  相似文献   

2.
目的分析宁夏地区人群中白细胞介素23受体(IL-23R)基因多态性与寻常性银屑病易感性的关系。方法在宁夏地区101例寻常性银屑病患者和103例正常对照组中,应用TaqMan探针荧光聚合酶链反应(PCR)技术对IL-23R基因的5个SNP位点(rs10489629,rs10889677,rs1495965,rs1343151,rs11209032)进行基因分型。实验数据用Haploview4.2软件进行统计分析。结果 IL-23R基因的5个SNP位点等位基因频率在患者组和对照组之间差异无统计学意义(P0.05),连锁不平衡分析显示,rs11209032和rs1495965位点之间有一定的连锁不平衡(D'=0.957,r~2=0.821)。对这2个位点进行单倍型分析仍未发现有统计学差异(P0.05)。结论 IL-23R基因的rs11209032,rs1343151,rs10489629,rs10889677,rs1495965位点可能与宁夏地区人群寻常性银屑病易感性不相关。  相似文献   

3.
目的:探讨白细胞介素-23受体(IL-23R)基因多态性与中国汉族人群银屑病易感性的关系。方法:在NCBI数据库上检索 IL-23R 的7个 SNP 位点( rs11209026、rs1004819、rs10489629、rs1343151、rs10889677、rs11209032、rs1495965)。从门诊病人中收集银屑病患者93例,选择健康献血员108例作为正常对照,检测共201例样品中7个SNP位点突变情况。多态性及其单倍型与银屑病相对危险度等数据处理均采用SPSS软件系统进行。结果:7个TagSNP位点中有4个等位基因( rs1004819、rs1343151、rs10889677、rs1495965)频率在病例组和对照组之间的差异有统计学意义( P<0.01)。结论:IL-23R基因多态性与汉族人银屑病易感性有关联。其中 4个 SNP 位点( rs1004819、rs1343151、rs10889677、rs1495965)与银屑病发病明显相关。  相似文献   

4.
【摘要】 目的 探讨白细胞介素12(IL-12)通路相关基因多态性与内蒙古蒙古族和汉族寻常型银屑病患者的遗传相关性及与HLA-Cw*0602的交互作用。方法 收集2012年12月至2018年3月于内蒙古医科大学附属医院住院的寻常型银屑病患者1 409例为病例组,其中汉族1 030例,蒙古族379例,健康对照组1 483例,其中汉族965例,蒙古族518例。采集受试者外周静脉血5 ml提取DNA,选择位于IL-12B(rs2082412、rs2288831、rs3212227、rs3213094、rs7709212)、IL-23R(rs11209026、rs2201841、rs7530511)、IL-28RA(rs4649203)基因区域的9个单核苷酸多态性(SNP),利用二代测序法进行基因多态性检测,利用序列特异性引物PCR对HLA-Cw*0602进行基因分型。利用PLINK1.07软件进行统计分析,χ2检验比较两组等位基因频率,并计算等位基因的相对危险度估计值比值比(OR),R × C列联表卡方检验进行单倍型分析。结果 IL-12B基因rs2082412、rs2288831、rs3212227、rs3213094、rs7709212等位基因频率在汉族病例组显著低于汉族对照组(P < 0.005);IL-12B基因rs3213094等位基因频率在蒙古族病例组显著低于蒙古族对照组(P < 0.005)。汉族和蒙古族病例组HLA-Cw*0602阳性率均显著高于相应民族对照组(P < 0.005)。分层分析显示,汉族HLA-Cw*0602阳性病例组IL-12B基因rs2082412、rs2288831、rs3212227、rs3213094、rs7709212等位基因频率显著低于汉族对照组(P < 0.005),而阴性病例组与汉族对照组各等位基因频率差异无统计学意义(P > 0.05)。蒙古族HLA-Cw*0602阳性或阴性病例组各等位基因频率与相应对照组差异均无统计学意义(P > 0.005)。分析IL-12B基因区域的5个SNP构建单倍型,在汉族、蒙古族病例组和对照组中6个单倍型分析差异均无统计学意义(P > 0.005)。基于HLA-Cw*0602分层的IL-12B基因多态性单倍型分析,蒙古族、汉族7个单倍型无论HLA-Cw*0602阳性和阴性病例组及对照组中的频率差异无统计学意义(P > 0.005)。HLA-Cw*0602阳性和阴性蒙古族病例组和对照组,单倍型GATGT频率在两组间差异均无统计学意义(P > 0.05)。结论 IL-12通路相关基因多态性与内蒙古蒙古族、汉族人群寻常型银屑病具有相关性,且IL-12B与HLA-Cw*0602在寻常型银屑病发病过程中可能存在交互作用。  相似文献   

5.
目的 探讨白介素12B(IL-12B)基因多态性位点rs6887695与汉族人寻常性银屑病临床表型(发病年龄、家族史、临床类型、性别)的相关性。 方法 采用ABI Taqman探针荧光PCR技术,对575例寻常性银屑病患者和1403例健康对照的DNA样本进行IL-12B基因多态位点rs6887695的基因分型。使用SPSS14.0分析软件,χ2检验比较患者组和健康对照组间、不同临床表型组间的基因型和等位基因频率分布的差异性。 结果 IL-12B基因多态性位点rs6887695三种基因型(GG、GC、CC)频率在寻常性银屑病患者组分别为42.61%、45.39%和12.0%,健康对照组分别为34.42%、47.83%和17.75%;等位基因频率(G、C)患者组分别为65.30%和34.70%,健康对照组分别为58.34%和41.66%,基因型和等位基因频率分布在患者组和健康对照组间差异均有统计学意义(χ2值分别为16.31和16.54,P值均 < 0.01),在慢性斑块状(543例)和急性滴状银屑病患者(32例)组间的差异均有统计学意义(χ2值分别为18.11和12.19,P值均 < 0.01)。等位基因G和基因型GG在患者组中的频率明显高于健康对照组,等位基因G和基因型GG在斑块状患者中的频率高于滴状患者。少儿发病组(35例)与成人发病组(540例)、家族史阳性组(102例)与家族史阴性组(440例)、男性患者组(341例)与女性患者组(234例)的基因型和等位基因频率分布差异均无统计学意义(P值均 > 0.05)。 结论 IL-12B(rs6887695)基因多态性与汉族人寻常性银屑病易感性相关联,特别是与斑块状银屑病相关,但与患者的发病年龄、家族史及性别可能无关联。  相似文献   

6.
目的探讨白介素12B(IL-12B)基因多态性位点rs6887695与汉族人寻常性银屑病临床表型(发病年龄、家族史、临床类型、性别)的相关性。方法采用ABITaqman探针荧光PCR技术,对575例寻常性银屑病患者和1403例健康对照的DNA样本进行IL-2B基因多态位点rs6887695的基因分型。使用SPSS14.0分析软件,妒检验比较患者组和健康对照组间、不同临床表型组间的基因型和等位基因频率分布的差异性。结果IL-12B基因多态性位点rs6887695三种基因型(GG、GC、CC)频率在寻常性银屑病患者组分别为42.61%、45.39%和12.0%,健康对照组分别为34.42%、47.83%和17.75%;等位基因频率(G、C)患者组分别为65.30%和34.70%,健康对照组分别为58.34%和41.66%,基因型和等位基因频率分布在患者组和健康对照组间差异均有统计学意义(r值分别为16.31和16.54,P值均〈0.01),在慢性斑块状(543例)和急性滴状银屑病患者(32例)组间的差异均有统计学意义(r值分别为18.11和12.19,P值均〈0.01)。等位基因G和基因型GG在患者组中的频率明显高于健康对照组,等位基因G和基因型GG在斑块状患者中的频率高于滴状患者。少儿发病组(35例)与成人发病组(540例)、家族史阳性组(102例)与家族史阴性组(440例)、男性患者组(341例)与女性患者组(234例)的基因型和等位基因频率分布差异均无统计学意义(P值均〉0.05)。结论IL-12B(rs6887695)基因多态性与汉族人寻常性银屑病易感性相关联,特别是与斑块状银屑病相关.但与患者的发病年龄、家族史及性别可能无关联。  相似文献   

7.
目的 探讨湖北汉族人群OX40配体蛋白基因rs844648位点和rs3850641位点基因多态性与SLE的相关性.方法 SLE患者82例和正常人对照组100例,采用PCR及限制性片段长度多态性方法(PCR-RFLP)检测TNFSF4基因rs844648和rs3850641位点多态性分布.结果 ①SLE组rs844648位点AA、AG和GG基因型频率分别为20.7%、62.2%、17.1%,正常人对照组为14.0%、55.0%、31.0%.SLE组rs844648多态性位点A等位基因携带者显著高于正常人对照组[73.2%比69.0%%,x2=4.69,P<0.05,OR值=2.182( 1.068~ 4.458)],SLE组与正常人对照组间差异有统计学意义;②SNP位点rs3850641的正常人对照组AA、AG和GG基因型频率分别是76.0%、21.0%和3.0%,而SLE组分别为62.2%、31.7%和6.1%,SLE组rs3850641位点G等位基因携带者显著高于正常人对照组[37.8%比24.0%,x2=4.07,P<0.05,OR值=1.925 (1.015 ~ 3.651)],SLE组与正常人对照组间差异有统计学意义.结论 TNFSF4基因rs844648和rs3850641位点存在单核苷酸多态性变异,该多态性与湖北地区汉族人群SLE的发病有相关性.  相似文献   

8.
目的探讨生物钟基因CLOCK基因多态性与广西地区男性不育的相关性。方法选取2019年3月至10月广西医科大学第一附属医院生殖中心和男性科门诊就诊的149例不育男性患者纳入不育组,根据精液检查分为少弱精不育组和原发性不育组;另选取91例同期体检有自然生育史、近期精液常规检查均为正常的健康男性作为对照组。采用DNA测序技术对CLOCK基因rs3749474和rs4580704位点进行基因分型。采用Logistic回归分析校正年龄后计算OR和95%CI,对CLOCK基因多态性和男性不育的遗传易感性进行关联分析。应用SHEsis软件进行单倍型分析。结果不育组和对照组rs3749474 CC基因型和C等位基因频率分布差异具有统计学意义(P=0.011,OR=2.78,95%CI:1.26~6.11;P=0.008,OR=1.68,95%CI:1.15~2.45)。而rs4580704位点各基因型和等位基因在对照组和不育组中的频率分布差异无统计学意义(P0.05)。亚组分析结果显示,rs3749474和rs4580704位点的基因型和等位基因在对照组和少弱精不育组中的频率分布差异均无统计学意义(P0.05)。而与对照组比较,rs3749474 CC基因型和C等位基因均显著增加男性原发性不育的风险(OR分别为4.81和2.22);rs4580704 CG、GG基因型和G等位基因携带者男性不育的患病风险增加(OR分别为3.78、4.02和2.13)。单倍型分析发现,CG和TC单倍型的频率在原发性不育组和对照组中的分布差异有统计学意义(P0.05)。结论 CLOCK基因rs3749474和rs4580704多态性与广西地区男性原发性不育有相关性。  相似文献   

9.
目的研究中国人群中GZMB基因多态性位点与白癜风疾病状态的遗传学关联。方法对包含303例白癜风患者及797例健康对照在内的1 100例中国汉族受试者覆盖GZMB基因的15个单核苷酸多态性位点进行基因分型。通过Logistic回归模型的方法分析了相关位点对白癜风患病风险的贡献。此外,还进行了单倍型的相关分析。结果确定出一个位于GZMB基因外显子区域的错义突变rs8192917与白癜风显著关联(OR=1.49,P=0.000 1)。单倍型分析差异无统计学意义。结论本研究确认在中国汉族人群中GZMB基因上的错义突变位点rs8192917与白癜风的疾病状态存在显著性关联。  相似文献   

10.
《中国性科学》2019,(10):52-55
目的探讨白细胞介素-2基因(IL-2)、白细胞介素-2受体α基因(IL-2Rα)及γ干扰素基因(IFN-γ)单核苷酸多态性(SNPs)与原因不明复发性流产(URSA)的相关性。方法采用病例对照研究,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,对中国浙江地区145例URSA患者(观察组)及150例健康人(对照组)IL-2(rs6822844)G/T、IL-2Rα(rs2104286)A/G及IFN-γ(rs2430561)T/A进行分析。结果①URSA组IL-2Rα(rs2104286)AA基因型及A等位基因频率均高于对照组,差异均有统计学意义(均P0.05)。且A等位基因携带者URSA患病风险是G等位基因携带者的2倍(OR=2.11,95%CI=1.34-3.33,P=0.001),AA基因型较AG+GG基因型URSA患病风险增加约1倍(OR=2.32,95%CI=1.39-3.88,P=0.001);②URSA组及对照组IL-2 (rs6822844) GG基因型频率均为100%,差异无统计学意义(P0.05);③URSA组及对照组IFN-γ(rs2430561)位点均存在SNPs分布,但两组等位基因及基因型频率差异均无统计学意义(均P0.05)。结论 IL-2Rα(rs2104286)与浙江地区URSA相关,且A等位基因是本地区URSA的遗传易感基因;IL-2 (rs6822844)和IFN-γ(rs2430561) SNPs与浙江地区URSA无关。  相似文献   

11.
Psoriasis is a common inflammatory and hyperproliferative skin disease with a multifactorial genetic basis. A recent study reported that psoriasis was associated with the IL12B haplotype rs3212227 (3'-untranslated region)-rs6887695 (60 kb, 5') and the IL23R haplotype rs7530511 (L310P)-rs11209026 (Q381R). We examined these four single-nucleotide polymorphisms (SNPs) for association with psoriasis in two groups of North American and German Caucasians: (1) 1,810 cases and 2,522 controls; and (2) 509 pedigrees. Both IL12B markers showed highly significant association with psoriasis in the case-control (rs3212227, odds ratio (OR)=1.62, P=1.7 x 10(-15); rs6887695, OR=1.49, P=2.7 x 10(-15)) and in the family-based analysis (rs3212227, P=2.2 x 10(-3); rs6887695, P=1.7 x 10(-3)). The IL23R SNPs also showed significant association in the cases and controls (rs7530511, OR=1.22, P=3.9 x 10(-3); rs11209026, OR=1.40, P=3.8 x 10(-4)). For both genes, common risk haplotypes were identified whose statistical significance approached (IL23R) or exceeded (IL12B) genome-wide criteria. We found no statistical evidence for interactions of these haplotypes with HLA-Cw6. Our results confirm associations between IL12B and IL23R and psoriasis in Caucasians, and provide a genetic basis for the clinical association between psoriasis and Crohn's disease.  相似文献   

12.
We aimed to investigate the role of IL-12B gene polymorphism (rs6887695) in the disease susceptibility and clinical phenotypes of psoriasis vulgaris patients in the Chinese Han population. The genotype data of the IL-12B gene polymorphism (rs6887695) in 575 psoriasis patients and 1,403 normal controls were investigated using TaqMan technology. The Chi-square test was used to compare the genotype and allele frequency distribution among the groups. The genotypic and allelic frequencies of rs6887695 in the IL-12B gene between the cases and controls, as well as between the guttate and plaque psoriasis cases, were statistically significant (P genotype <0.01, P allele <0.01). However, the differences between the pediatric and adult onset psoriasis patients, between familial and sporadic cases, and between female and male cases were not statistically significant (P > 0.05). The genetic polymorphism of the IL-12B gene (rs6887695) may be associated with the psoriasis susceptibility in the Chinese Han population, especially for the plaque cases, but not associated with the age at onset, family history, or sex.  相似文献   

13.
Variants in two genes of the IL-23 receptor (R) pathway have recently been shown to be associated with psoriasis vulgaris (PV). We were interested whether the risk conferred by these variants differs between psoriatic skin and joint disease. Four variants of the IL12B and IL23R genes were analyzed in 1,114 PV patients, 748 patients with psoriatic arthritis (PA) and 937 healthy controls before and after stratification for the major psoriasis risk allele at psoriasis susceptibility locus 1 (PSORS1). For both PA and PV, we detected the strongest association with two IL12B single-nucleotide polymorphisms and the corresponding haplotype as reflected by minimal P-values of 10(-7) and highest odds ratios of 1.50 (1.28-1.75) for rs6887695 in PA patients and 1.50 (1.27-1.76) for rs3212227 in the PV cohort, respectively. For IL23R, only rs11209026 showed an association. The results remained significant after correction for multiple testing. No difference was observed after stratification for the PSORS1 risk allele. While confirming recent reports on variants of the IL-23R pathway as susceptibility factors for PV, our study is the first to extend analysis of both genes to PA. However, our results indicate that these variants are not specific risk factors for arthritis, but relevant for susceptibility to psoriasis in general.  相似文献   

14.
山东汉族寻常性银屑病患者eIF4E、MMP-9基因多态性研究   总被引:1,自引:0,他引:1  
目的 探讨真核细胞翻译起始因子(eIF4E )、基质金属蛋白酶-9(MMP-9)基因内的单核苷酸多态性与山东汉族寻常性银屑病的关系。方法 基于群体的病例对照关联分析方法,利用Taqman分型方法对188例银屑病患者及280例正常对照人群MMP-9基因内的2个位点以及eIF4E基因内的1个位点进行分析,对基因型频率及等位基因频率采用PLINK软件进行统计学分析。结果 位于MMP-9基因上游调控区域的 rs4810482等位基因T在银屑病组中的频率显著低于对照组(OR = 1.49,95% CI = 1.12 ~ 1.99,P < 0.01),在隐性与显性遗传模型分析中,差异具有统计学意义。生物信息学分析表明,该位点可能改变了转录因子的结合位点。在研究中分析的其余两个位点rs3918254和rs11723037与银屑病无相关性。结论 位于MMP-9基因上游调控区域的rs4810482与银屑病具有显著相关性,可能是银屑病的一个易感基因。  相似文献   

15.
A recent genome-wide association analysis of psoriasis identified IL12B and IL23R as significantly associated with psoriasis. Here we report association test results of a Thai cohort consisting of 206 psoriasis cases and 114 controls. The IL23R SNPs rs7530511 and rs11209026, and IL12B SNPs rs3212227 and rs6887695 were genotyped using Taqman assays. Data were analyzed using a logistic regression model for linear trend of association. One of the IL23R markers, rs7530511, was marginally significant (P = 0.017). The other IL23R marker, rs11209026, was not polymorphic. One of the IL12B markers, rs3212227, showed significant association with psoriasis (OR = 1.64, P = 0.0058) while the other, rs6887695, did not (OR = 1.29, P = 0.12). Haplotype analysis of the two IL12B SNPs yielded highly significant association (P = 0.00081, OR = 1.73). These results showed that IL12B is an important genetic factor in psoriasis pathogenesis in the Thai population, with an association strong enough to yield significant confirmatory evidence using a modest sample size. Together with previously reported evidence for IL12B association in Caucasian, Japanese, and Chinese psoriatics, our results support the hypothesis that genes encoding components of the IL23-mediated inflammatory pathway are important determinants of psoriasis pathogenesis across multiple racial groups.  相似文献   

16.
Th2-dominated immune responses are believed to contribute to the pathogenesis of atopic dermatitis (AD). IL-4 and IL-13 are typical pleiotropic Th2 cytokines that play a central role in IgE-dependent inflammatory reactions. Single-nucleotide polymorphisms (SNPs) in IL-4 and IL-13 have been reported in patients with allergic disease from numerous countries. Gene-gene interactions among genes have been identified in patients with asthma, although negative results have been reported. To investigate the associations of SNPs in these genes and the interactions between these genes in AD, we genotyped 23 SNPs of the IL-4, IL-13, IL-4R, IL-13Rα1 and IL-13Rα2 genes for 1089 case-control samples (631 AD patients and 458 controls) and analysed the SNPs and haplotypes in these genes. We also searched for gene-gene interactions among these five genes. Our data identified an association between rs3091307 and rs20541 in the IL-13 gene and between rs2265753 and rs2254672 in the IL-13Rα1 gene and the AD phenotype. In particular, three of the four SNPs were especially predictive of the allergic type of AD (ADe), and the haplotype TCGG in the IL-13Rα1 gene showed significant association with AD, especially ADe. Furthermore, the combination of rs3091307 GG/ rs2265753 GG (IL-13/IL-13Rα1) conveyed a significantly higher risk for developing ADe. However, we did not identify any SNPs in the IL-4, IL-4R and IL-13Rα2 genes that were associated with AD. As IL-13Rα1 is most likely expressed in Th17 cells rather than in Th2 cells, these data suggest diversity in the classification of Th cells that needs to be verified in future studies.  相似文献   

17.
目的 探讨人肿瘤坏死因子α诱导蛋白3(TNFAIP3)相互作用蛋白1(TNIP1)基因多态性与汉族人系统性红斑狼疮(SLE)的遗传关联性。 方法 收集284例汉族人SLE和630例汉族人对照,选择TNIP1基因区域120个单核苷酸多态性(SNP),利用连接酶检测反应(LDR)对其进行基因分型,对分型数据利用PLINK 1.07和Haploview软件进行统计分析。 结果 经过数据质控,最终105个SNP的分型数据进入最终统计分析。rs3805433 C、rs12516176 C、rs6869605 C和rs4958882 G的等位基因频率在SLE组(参考等位基因频率0.301 ~ 0.306)高于对照组(参考等位基因频率0.221 ~ 0.225),差异有统计学意义(OR:1.50 ~ 1.53,均P < 4.72 × 10-4)。这4个SNP间存在强连锁不平衡(r2 ≥ 0.871,D′ ≥ 0.938),且与既往报道的SLE相关SNP rs10036748间存在中等程度的连锁不平衡(r2 ≥ 0.073,D′ ≥ 0.868)。单倍型分析发现,单倍型(H2:CCCGT)在病例组中的频率(0.290)显著高于对照组(0.210),差异有统计学意义(OR = 1.54,P < 4.72 × 10-4)。 结论 TNIP1基因多态性与汉族人SLE具有相关性。  相似文献   

18.
Through a series of linkage analyses in a large Chinese family cohort of psoriasis, we previously identified and confirmed a non-HLA psoriasis linkage locus PSORS9 within a small region at 4q31.2-32.1. Within the critical region of the PSORS9 locus, IL-15 has been long recognized as a strong candidate gene for psoriasis. In this study, we investigated the association between IL-15 genetic polymorphisms and psoriasis in a large Chinese sample. Highly significant evidence for association was identified at a single-nucleotide polymorphism (SNP) (g.96516A --> T) within the 3'-untranslated region (UTR) of the IL-15 gene (P=0.00006, after correction for multiple testing). Haplotype analysis using the SNPs within the 3'UTR region also provided strong supporting evidence for association (P=0.00005), where we identified a haplotype of the 3'UTR region of IL-15 associated with increased risk to psoriasis (odds ratio=1.65). This association was also supported by the results of our expression activity analyses, where we demonstrated that the identified risk haplotype is associated with an increased activity of IL-15. Therefore, we provided early evidence for the important role of IL-15 genetic variants in the pathogenesis of psoriasis, probably by increasing interleukin production and inflammation in the lesions of psoriasis.  相似文献   

设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号