微小RNA-181基因家族单核苷酸多态性和基因表达水平与缺血性脑卒中遗传易感性的关系

目的 探讨微小RNA（miR）-181基因家族rs16927589、rs77418916和rs8108402位点单核苷酸多态性（SNP）与缺血性脑卒中(IS)遗传易感性之间的关系;比较对照组与IS组中miR-181基因家族表达水平的差异,进一步探讨与基因表达水平之间的关系,为IS的防治工作提供帮助。 方法 使用SNaPshot技术对349例IS患者和372例对照组进行SNP基因分型检测,并用DNA测序法加以验证;使用日立7600生化仪检测对照组和IS组血脂水平;用ABI7500 Real-time PCR仪检测对照组和IS组外周血单核细胞miR-181基因家族的表达水平。 结果 关于rs8108402位点有CC、CT、TT 3种基因型,对照组和IS组基因型及等位基因频率对比发现,与CC基因型比较,CT基因型的携带人群患IS的风险性明显增高,TT基因型携带者患IS风险降低［CC vs CT:优势比（OR）=1.56,95%置信区间（CI）,1.11~2.18, P<0.05; CC vs TT: OR=0.25,95%CI, 0.10~0.62, P<0.01］,等位基因分析未发现相关性;rs16927589位点检测出TT、CT、CC 3种基因型,rs77418916位点有AA、AT、TT 3种基因型,对照组与IS组对比,未发现相关性。对rs8108402位点分层分析表明,携带CC基因型的IS患者其低密度脂蛋白（LDL-C）比携带CT基因型的IS患者高（P<0.05）,rs8108402位点多态性可能与IS的临床表现有相关性。IS组中,外周血单核细胞中miR-181a、miR-181b和miR-181c的表达明显高于对照组,差异有统计学意义（P<0.05）,而miR-181d的表达低于对照组,差异无计学意义（P>0.05）;对阳性位点rs8108402位点多态性与基因表达水平进一步分析发现,rs8108402位点多态性与基因表达水平无相关性。 结论 MiR-181c基因rs8108402位点CT和TT基因型可增加IS患病风险,CTC单倍型可增加IS患病风险。MiR-181c基因rs8108402位点多态性与LDL-C的高低有相关性,携带CC基因型的IS患者,其LDL-C水平较携带CT基因型患者高。MiR-181基因家族在正常对照组和IS组中的表达有明显差异,miR-181基因家族可能是IS的潜在的预测靶标和治疗靶基因。     

广西人群miRNA-181a 基因rs16927589 位点多态性分布特点及其与 血脂相关性

目的:探讨298例广西正常人群miRNA-181a基因rs16927589位点单核苷酸多态性(SNPs)分布特征,对比研究各种族人群间的分布差异,进一步研究rs16927589位点SNP与血脂水平的相关性。方法:使用DNA测序技术和单碱基延伸聚合酶链反应(PCR)技术检测298例广西正常人rs16927589位点的基因型及等位基因频率,用7600生化仪检测298例广西正常人的血脂相关指标,并用统计学软件分别比较rs16927589位点多态性在各种族人群间的分布差异和各基因型携带者的血脂水平差异。结果:广西人群rs16927589位点有TT、CT和CC三种基因型,其频率分布为73. 49%、25. 50%和1. 01%;不同性别组之间的广西人群对比发现,该位点基因型及等位基因频率分布差异没有统计学意义(P0. 05);该位点基因型与人类基因组单体型图(Hap Map)所公布的非洲人、欧洲人、印度人和日本人相比较,差异有统计学意义(P0. 05),与北京人比较,差异没有统计学意义(P0. 05); rs16927589位点三种基因型人群血脂之间比较,携带CC基因型人群的胆固醇(TC)与TT、CT组比较,差异有统计学意义(P0. 05),携带TT基因型人群的三酰甘油(TG)与CT组比较,差异有统计学意义(P0. 05)。结论:rs16927589位点多态性在不同种族人群之间分布有差异;广西人群中rs16927589位点多态性与血清总胆固醇(TC)水平和三酰甘油(TG)水平有关。     

PD-1基因多态性与肺结核易感性的关系

目的探讨PD-1基因多态性与肺结核发病风险以及临床特征的相关性。方法采用PCRRFLP分析方法,检测262例肺结核患者和255例健康志愿者基因组DNA中PD-1基因SNP位点rs2227981和rs2227982基因型和等位基因频率的分布情况,分析PD-1基因多态性与肺结核易感性的关系;并收集了肺结核患者的临床资料,考察PD-1基因多态性与肺结核临床特征的相关性。结果对照组rs2227981和rs2227982基因型和等位基因频率的分布符合Hardy-Weinberg遗传平衡定律;rs2227981位点T等位基因(OR=2.721,95%CI:2.003~3.697,0.001)、rs2227982位点C等位基因(OR=1.614,95%CI:1.262~2.064,0.001)均与肺结核易感性相关;与rs2227981 CC基因型相比,携带PD-1 rs2227981 CT或TT基因型者具有更高的肺结核发病风险(OR=2.937,95%CI:2.018~4.274,0.001),且患者病灶范围较大(=0.009),痰菌阳性率较高(0.001);与rs2227982 TT基因型相比,携带rs2227982 TC或CC基因型者具有更高的肺结核发病风险(OR=1.706,95%CI:1.187~2.452,=0.004),且患者结核空洞的发生率较高(=0.021)。结论 PD-1基因rs2227981和rs2227982位点SNP多态性与肺结核易感性及临床特征相关。     

抑制素β基因多态性与孕妇子痫前期易感性及新生儿围生结局关联研究

目的 探讨抑制素β基因多态性与孕妇子痫前期易感性及新生儿围生结局关系.方法 选取子痫前期孕妇185例,另选同期正常孕妇120例为对照组.采用聚合酶链限制性片段长度多态性(PCR-RFLP)方法对该位点进行基因分型,比较各组基因型频率和等位基因频率的差异.观察两组孕妇妊娠结局.结果 抑制素β基因rs505922位点共检出CC、CT和TT等3种基因型.子痫前期组与对照组比较,基因型频率与等位基因频率差异有统计学意义(P＜0.05).子痫前期组内CT和CC基因型新生儿窒息、死亡率均高于TT基因型,差异有统计学意义(P＜0.05).结论 抑制素β基因rs505922位点单核苷酸基因多态性与子痫前期密切相关,CT和CC基因型加重了子痫前期的程度,该位点可能是子痫前期孕妇发病的易感位点.     

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。     

has-miR-27a和has-miR-124a基因单核苷酸多态性与妊娠期糖尿病的相关性

目的 探讨has-miR-27a基因rs895819位点和has-miR-124a基因rs531564位点单核苷酸多态性(SNP)与妊娠期糖尿病(GDM)发病的相关性.方法 共纳入1 719例孕妇,其中GDM 839例;糖耐量正常和50 g葡萄糖负荷试验阴性者880例,作为对照组.采用TaqMan探针法检测两组孕妇SNP位点基因型,比较两组孕妇各SNP位点等位基因和基因型频率差异,以及不同基因型间临床生化指标的差异.结果 1)rs895819位点CC、CT和TT基因型频率在GDM组分别为3.1％、39.3％和57.6％,对照组分别为7.1％、37.6％和55.3％,CC基因型频率显著低于对照组(P＜0.05);隐性模型(CC vs CT +TT)中两组差异仍具有显著性[P=0.001;OR0.435(0.270,0.702)];GDM组C等位基因频率(22.8％)低于对照组(25.9％)(P＜0.05).2)rs895819 CC基因型孕妇空腹血糖低于CT +TT基因型孕妇(P＜0.05).结论 has-miR-27a基因rs895819位点与GDM相关,C等位基因降低GDM的发病风险.     

Ⅰ型干扰素通路IRF5 基因多态性与系统性红斑狼疮的关联性研究

目的:研究玉型干扰素通路IRF5 基因rs2004640、rs10954213、rs4728142 位点的单核苷酸多态性与系统性红斑狼疮易感性之间的关联。方法: 运用Taqman 荧光定量PCR 检测218 例SLE 患者及200 例健康对照者IRF5 基因rs10954213、rs4728142、rs2004640 位点基因型,计算等位基因频率,分析其与SLE 的关系;用IIF 法和LIA 法测定218 例SLE 患者血浆中抗核抗体、抗双链DNA 抗体和特异性抗体,并分析其与IRF5 rs2004640、rs10954213 位点基因频率的关系。结果:IRF5 rs2004640 位点等位基因T 频率分布SLE 组高于对照组,差异有统计学意义(字2 =6.809,P =0.009),基因型GG/ TT 分布在两组差异有统计学意义(字2 =5.111,P =0.024,);IRF5 rs10954213 位点等位基因G 频率分布在SLE 组高于对照组,差异有统计学意义(字2 =4.332,P =0.037);基因型GG 在两组的分布差异有统计学意义(字2 =5.805,P =0.016);IRF5 rs4728142 位点等位基因频率及基因型,两组比较差异无统计学意义。SLE 组IRF5 rs2004640 位点等位基因T 和抗Sm 抗体、抗Rib-P 抗体相关(字2 =8.512、4.057;P =0.005、0.048)。218 例SLE 患者中活动期患者特异性抗体主要以Anti-NUC、Anti-His、Ant-Rib-P 为主,两组比较差异有统计学意义(P<0.05)。结论:IRF5 基因rs2004640、rs10954213 基因位点单核苷酸多态性与SLE 易感性相关,rs4728142 基因位点单核苷酸多态与SLE 易感性不相关;IRF5 rs2004640 T 等位基因和抗Sm 抗体、Anti-Rib-P 抗体相关,SLE 活动期患者特异性抗体主要以抗ds-DNA 抗体、抗NUC 抗体、抗His 抗体、抗Rib-P 抗体为主。     

ATM基因单核苷酸多态性rs189037 C>T与原发性高血压的相关性研究

本文旨在探讨共济失调毛细血管扩张症突变(ATM)基因单核苷酸多态性rs189037CT与原发性高血压(EH)之间的关系。我们采用病例对照研究法,随机选择50岁以上的住院患者369例,根据高血压诊断标准,分为EH组(190例)和对照组(179例)。用聚合酶链式反应-限制性片段长度多态性分析方法检测ATM基因rs189037位点的基因型。在整个研究人群中,ATM基因rs189037的三种基因型CC、CT和TT分别占33.9%、48.0%和18.1%。三种基因型分布在EH组和对照组之间差异无统计学意义(P=0.619)。排除主要混杂因素以及性别和年龄分层分析后,仍未发现ATM基因多态性rs189037与EH的发生相关(P0.05)。另外,TT型携带者中冠心病(CAD)发生风险明显低于CC和CT基因型(OR=0.49,95%CI=0.26~0.90,P=0.021)。总之,ATM基因多态性rs189037与EH的发生没有相关性,但与CAD的发生密切相关,TT基因型可能是CAD的保护因素。     

广西人群miRNA-107基因多态性分布特征及其与血脂的关系

目的探讨miR-107基因单核苷酸多态性(SNP)位点rs2296616 C/T在广西地区健康人群中的分布特点,对比其在不同种族间基因型及等位基因频率分布的差异,并进一步探讨rs2296616 C/T位点单核苷酸多态性(SNP)与血脂水平的相关性。方法采用多重单碱基延伸SNP分型技术(multiplex SNa Pshot)和DNA测序法,检测372例广西健康人rs2296616 C/T位点的多态性,用7600生化仪检测其血脂相关指标,并用统计学方法分别比较rs2296616C/T位点多态性在各种族人群间的分布差异及不同基因型间的血脂水平差异。结果广西人群miR-107基因rs2296616 C/T位点存在TT(91.1%)和CT(8.9%)两种基因型及T(95.6%)和C(4.4%)两种等位基因。该位点的基因型和等位基因型频率在广西人群不同性别间的比较,差异无统计学意义(P>0.05)。其基因型和等位基因频率与人类基因组单体型图(Hap Map)所公布的欧洲人、日本人、非洲人、印第安人和墨西哥人分型数据相比较,差异均有统计学意义(P<0.05),但与北京汉族人群比较,差异无统计学意义(P>0.05)。rs2296616 C/T位点两种基因型人群血脂之间比较,携带TT基因型人群的高密度脂蛋白胆固醇(HDL-C)与CT组比较,差异具有统计学意义(P<0.05)。结论广西人群miR-107基因rs2296616 C/T位点多态性与其他种族人群之间比较存在不同程度的差异;rs2296616 C/T位点多态性与HDL-C水平高低有关。     

STAT4基因rs7574865位点多态性与武陵山地区类风湿性关节炎具有相关性

目的探讨信号转导子与转录激活子4(STAT4) rs7574865和miRNA146a rs2910164基因单核苷酸多态性(SNP)与武陵山地区类风湿性关节炎(RA)的相关性。方法选择287例RA患者和同期305例体检的健康人群为对照组,采用多重PCR结合高通量测序技术(Hi-SNP)测定RA患者和同期对照人群rs7574865和rs2910164位点基因型,用χ2检验比较分析两组人群中基因型和等位基因型频率分布,并分析这两个位点多态性与RA发病风险的相关性以及与患者类风湿因子(RF)和抗环瓜氨酸肽(ACCP)抗体水平的相关性。结果 rs7574865位点的基因型频率在两组间存在统计学差异,TT基因型和T等位基因均是RA的易感因素(OR=2. 42,95%CI:1. 37～4. 28; OR=1. 43,95%CI:1. 12～1. 82),同时显性模型和隐性模型也显示与RA的发病易感相关。rs2910164位点单核苷酸多态性与RA易感性无关,并且rs7574865和rs2910164位点多态性与RF和ACCP抗体水平均无显著相关性。结论 STAT4 rs7574865位点单核苷酸多态与武陵山地区RA的发病相关,与患者RF和ACCP抗体水平无关;而miRNA146a rs2910164多态性与RA无显著相关性。     

雌激素受体1 基因rs2046210 位点多态性与乳腺癌患病风险性关系初步研究

目的: 探讨雌激素受体1 基因(Estrogen receptor 1,ESR1) 周围区域单核苷酸多态(Single nucleotide polymorphism,SNP)位点rs2046210 与女性乳腺癌发生的相关性。方法:选取114 例乳腺癌患者的组织切片和141 例健康对照者的外周血,抽提基因组DNA,采用Taqman 探针法检测SNP 位点rs2046210 的基因型,计算基因型与基因频率,先检测Hardy-Weinberg 平衡性,然后采用字2 检验进行组间比较。结果:经检测rs2046210 等位位点T、C 及其三种基因型CC、TC、TT 均符合Hardy-Weinberg 平衡性定律,具有群体代表性(字2 值分别为2.78、2.95,v=1,P 均>0.05)。等位位点T、C 在乳腺癌组的分布频率为43.40%、56.60%,在健康组的分布频率为38.30%、61.70%。两组比较差异无统计学意义(P<0.05),该位点等位基因在病例组与对照组的分布无明显差别。多态性位点的三种基因型CC、TC、TT 在乳腺癌的频率分别为35.75%、11.35% 和53.90%,对照组35.96%、22.81%和41.22%,两组间比较差异有显著统计学意义(P<0.05)。进一步比较发现,基因型CC/ TT在两组中分布差异无统计学意义(P>0.05),相对风险比值OR 为1.94(0.92 ~ 4.1,95% CI),基因型CC/ TC 在两组中分布差异无统计学意义(P =0.228>0.05),相对风险比值OR 为0.74(0.43 ~1.28,95%CI),而基因型TT/ TC 在两组中分布差异有显著统计学意义(P =0.008<0.05)。结论:在贵州地区人群,雌激素受体1 基因rs2046210 位点的单核苷酸多态性可能与乳腺癌的遗传易感性相关,特别是rs2046210 TT 基因型可能增加个体患乳腺癌的风险,而CC 基因型降低了乳腺癌的患病风险。     

A functional single nucleotide polymorphism in promoter of ATM is associated with longevity

Although the ‘ataxia telangiectasia mutated’ (ATM) gene plays an important role in physiological processes, such as sensing DNA damage, reducing oxidative stress and protecting telomeres length, little information about ATM and longevity is available. Therefore, we aim to examine the association between genetic variants in promoter of ATM and longevity in Chinese Nonagenarians/Centenarians. Genotyping was performed in 789 long-lived individuals (LLIs) and 886 ethnically matched control subjects. A single nucleotide polymorphism (SNP, rs189037) in the promoter region of ATM gene was identified, and significant association between CT genotype and longevity was observed. Meanwhile, the SNP was able to affect expression of ATM mRNA by differentially binding to AP-2α. The CC genotype strongly bound to AP-2α, and the TT genotype showed less binding affinity to AP-2α. The AP-2α strongly repressed the reporter expression in the CC genotype and showed less repression of the TT genotype driving expression in vitro assay. Accordingly, TT genotype individuals had highest ATM mRNA expression, CT genotype individuals had moderate ATM mRNA expression, and the CC genotype individuals had the lowest ATM mRNA.     

miR-196a-2基因多态性与慢性丙型肝炎抗病毒治疗疗效的关系

目的 探讨miR-196a-2 SNP位点rs11614913与慢性丙型肝炎患者对长效干扰素联合利巴韦林治疗疗效的相关性.方法 选择接受聚乙二醇干扰素α-2a（Peg-IFN-α-2a）或α-2b（PegIFN-α-2b）联合利巴韦林（RBV）抗病毒治疗的慢性丙型肝炎患者共139例,其中持续病毒学应答（SVR）组82例,无病毒学应答（NVR）或复发组57例,采集静脉血并进行DNA提取,采用聚合酶链式反应-限制性内切酶长度多态性（PCR-RFLP）方法 对miR-196a-2进行SNP分型,组间差异进行分析比较.结果 位于miR-196a-2 rs11614913位点的CT基因型与TT基因型两组间比较差异具有统计学意义[P=0.006,A值=3.5（1.402-8.737）],CC基因型与TT基因型在两组间比较差异有统计学意义[P值=0.011,A值=4.000（1.330-12.031）].T等位基因与C等位基因频率在两组间比较差异有统计学意义[P=0.008,A值=1.926（1.185-3.131）].结论 位于miR-196a-2基因区rs11614913位点的多态性与慢性丙型肝炎患者抗病毒疗效具有相关性,T等位基因或TT基因型与SVR相关,而C等位基因或CC基因型与NVR或复发相关.     

The SCARB1 rs5888 SNP and Serum Lipid Levels in the Guangxi Mulao and Han Populations

Backgroud: The associations of scavenger receptor class B type 1 (SCARB1) rs5888 single nucleotide polymorphism (SNP) and serum lipid levels are inconsistant among diverse ethnic populations. The present study was undertaken to detect the association of rs5888 SNP and serum lipid levels in the Guangxi Mulao and Han populations.Methods: Genotypes of the SCARB1 rs5888 SNP in 801 subjects of Mulao and 807 subjects of Han Chinese were determined by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing.Results: Serum apolipoprotein (Apo) B levels and the T allelic frequency were higher in Mulao than in Han. Serum high-density lipoprotein cholesterol (HDL-C) levels in Mulao were different among the genotypes, the subjects with TT genotype had lower HDL-C levels than the subjects with CC or CT genotype in female (P < 0.05). For the Han population, serum triglyceride (TG), HDL-C, ApoAI, ApoB levels and the ratio of ApoAI to ApoB in males were different among the genotypes, the T allele carriers had lower serum HDL-C, ApoAI levels and ApoAI/ApoB ratio and higher serum ApoB levels than the T allele noncarriers (P < 0.05 for all), the subjects with TT genotype had higher serum TG levels than the subjects with CC or CT genotype. Serum HDL-C levels in Mulao females and serum HDL-C, ApoAI, ApoB levels and the ApoAI/ApoB ratio in Han males were correlated with genotypes by the multiple linear regression analysis. Serum lipid parameters were also influenced by genotype-environmental interactions in Han but not in Mulao populations.Conclusions: These results suggest that the rs5888 SNP is associated with serum HDL-C levels in Mulao females, and TG, HDL-C, ApoAI, ApoB levels and the ApoAI/ApoB ratio in Han males. The differences in serum ApoB levels between the two ethnic groups might partially attribute to different SCARB1 genotype-environmental interactions.     

Scavenger Receptor Class B Type 1 Gene rs5888 Single Nucleotide Polymorphism and the Risk of Coronary Artery Disease and Ischemic Stroke: A Case-Control Study

Background: Our previous studies have showed that the rs5888 single nucleotide polymorphism (SNP) in Scavenger receptor class B type 1 (SCARB1) gene is associated with serum lipid levels in the general Chinese populations. The present study was undertaken to detect the associations between rs5888 SNP and the risk of coronary artery disease (CAD) and ischemic stroke (IS).Methods: A total of 1,716 unrelated subjects (CAD, 601; IS, 533; and healthy controls, 582) were included in this study. Genotyping of the rs5888 SNP were determined by polymerase chain reaction and restriction fragment length polymorphism.Results: The genotypic frequencies of SCARB1 rs5888 SNP were different between CAD patients and controls, the subjects with TT genotype had high risk of CAD (OR = 1.76, P = 0.038 for TT vs. CC; and OR = 1.75, P = 0.036 for TT vs. CC/CT). There was no significant association between genotypes and the risk of IS. Further analysis showed that the subjects with TT genotype in the total population had lower levels of high-density lipoprotein cholesterol than the subjects with CC/CT genotypes (P < 0.05), the subjects with TT genotype in controls but not in CAD or IS patients had higher levels of serum LDL-C and ApoB than those with CC genotype (P < 0.05 for each).Conclusions: The present study suggests that the SCARB1 rs5888 SNP influences serum lipid levels, and is associated with the risk of CAD.     

Sex-specific association of the SPTY2D1 rs7934205 polymorphism and serum lipid levels

The objective of the present study was to detect the association of the rs7934205 single nucleotide polymorphism (SNP) near the Suppressor of Ty, domain containing 1 gene (SPTY2D1) and serum lipid levels between males and females in the Mulao and Han populations. Genotyping of SPTY2D1 rs7934205 SNP was performed in 933 of Mulao and 865 of Han participants using polymerase chain reaction and restriction fragment length polymorphism. The T allele frequency was different between Mulao males and females (23.2% vs. 27.9%, P = 0.018). The genotype and allele frequencies were also different between Han males and females (P = 0.020 and P = 0.004; respectively). Serum levels of apolipoprotein (Apo) A1 in Mulao males; and total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL-C), ApoA1 and ApoB in Mulao females were different between the CC and CT/TT genotypes (P < 0.05). Serum TC, ApoB levels in Han males, and ApoB levels in Han females were different between the CC and CT/TT genotypes (P < 0.05). The subjects with CT/TT genotype in both Mulao and Han males and females have more favorable lipid profiles than those with CC genotype. These findings suggest that the association between the SPTY2D1 rs7934205 SNP and serum lipid levels might have ethnic- and/or sex-specificity.     

广西人群白细胞介素17A基因rs3819024和rs1974226的多态性

目的 探讨白细胞介素17 A（IL-17A）基因rs3819024和rs1974226多态性在广西人群中的分布特点,比较不同种族和地区人群间两位点基因型和等位基因频率的差异。 方法 采用SNaPshot SNP技术和DNA测序法,检测443例广西人rs3819024和rs1974226 多态性,统计分析两位点基因型和等位基因频率与国际人类基因组单体型图计划公布的北京汉族人群（HapMap-CHB）、日本人群（HapMap-JPT）、欧洲人群（HapMap-CEU）和非洲人群（HapMap-YRI）的差异。结果 广西人群rs3819024存在 GG、GA和AA 3种基因型,而rs1974226存在CC、CT和TT 3种基因型,两位点基因型和等位基因频率在不同性别间比较,差异均无统计学意义(P>0.05)。广西人群rs3819024 基因型和等位基因频率与HapMap-CHB人群比较,差异均无统计学意义（P>0.05）,然而与 HapMap-JPT、HapMap-CEU和HapMap-YRI人群比较,差异均有统计学意义（P<0.01）。而广西人群rs1974226基因型和等位基因频率与HapMap-CHB和HapMap-JPT人群比较,差异均无统计学意义（P>0.05）,然而与HapMap-CEU和HapMap-YRI人群比较,差异均有统计学意义（P<0.05）。 结论 广西人群存在IL-17A基因rs3819024和rs1974226多态性,与其他种族和地区人群比较存在不同程度的差异。