CASP9基因在非小细胞肺癌中的表达及其多态性研究

目的探讨caspase9(CASP9)基因在非小细胞肺癌(non-small cell lung cancer,NSCLC)中的表达及其单核苷酸多态(single nucleotide polymorphism,SNP)位点在非小细胞肺癌患者和正常人中的分布情况。方法应用逆转录-PCR方法检测了81例NSCLC患者及对应癌旁正常组织中CASP9的表达情况;应用限制性片段长度多态性技术结合测序法,分析81例NSCLC患者及100名正常人CASP9基因2个SNP位点基因型;应用列联表法统计分析患者组和对照组各SNP位点基因型及等位基因频率。结果44.4%(36/81)的NSCLC组织CASP9基因表达明显下调,与癌旁正常组织相比差异有统计学意义(P<0.05)。位于CASP9基因第1外显子的SNP位点rs1052571的基因型频率和等位基因频率在两组人群中的分布差异无统计学意义;位于CASP9基因第5外显子的SNP位点rs1052576的基因型频率和等位基因频率在两组人群中的分布差异有统计学意义;患者组G等位基因频率明显高于对照组(P<0.05);AG基因型频率在有淋巴结转移的患者中明显高于无淋巴结转移的患者(P<0.05)。结论CASP9基因在NSCLC中低表达,rs1052576多态位点G等位基因和肺癌的发生相关。AG基因型和淋巴结转移有关。     

OAS1 gene haplotype confers susceptibility to multiple sclerosis

Multiple sclerosis (MS) is associated with genetic susceptibility and unknown environmental triggers, possible viral infections, but the specific etiological mechanism that subsequently develops into an inflammatory/autoimmune cascade of events is poorly understood. Recently, genetic variants of 2',5'- oligoadenylate synthetase 1 (OAS1) gene, a critical enzyme involved in innate antivirus response, have been associated with differential enzyme activity and type 1 diabetes in both case-control and family studies. We hypothesized that polymorphisms in the OAS1 gene could influence the susceptibility to MS. To test this hypothesis, we conducted a case-control study of 333 patients with MS and 424 healthy controls and genotyped two OAS1 single nucleotide polymorphisms (SNPs) by restriction fragment length polymorphism method: rs 10774671, A/G SNP altering the splicing site at the seventh exon, and rs 3741981, a nonsynonymous (Ser162Gly) A/G SNP in the third exon. Haplotype but not single-marker analysis revealed an association of the haplotype created by the G allele at rs 10774671 and the A allele at rs 3741981 with the susceptibility to MS (P value = 8.8 x 10(-5)). Subjects carrying this haplotype had an increased risk of MS comparing with those not carrying it (odds ratio = 4.7, 95% confidence interval 2.1-10.9). Our findings indicate that the OAS1 gene polymorphisms may confer susceptibility to MS or serve as markers of functional variants and suggest that OAS1 activity is involved in the etiology of the disease. Future studies in a larger sample and association analysis with functional variants will clarify the role of the OAS1 gene in the susceptibility to MS.     

Association of functional GITR gene polymorphisms related to expression of glucocorticoid-induced tumour necrosis factor-receptor (GITR) molecules with prognosis of autoimmune thyroid disease

The glucocorticoid-induced tumour necrosis factor (TNF)-receptor (GITR) affects the functions of regulatory T (T(reg)) and effector T (T(eff)) cells, but the significance of this phenomenon is still unclear. To examine the association of single nucleotide polymorphisms (SNPs) in the GITR gene with the expression of GITR molecules on T cells and with the pathological conditions in patients with autoimmune thyroid disease (AITD), we examined the frequencies of four candidate SNPs in AITD patients and healthy volunteers by restriction enzyme analysis and direct sequence analyses. We also analysed the GITR expression on peripheral T(reg) and T(eff) cells in AITD patients by three-colour flow cytometry. The CC genotype in the rs3753348 C/G SNP was significantly more frequent in patients with mild Hashimoto's disease (HD) than in those with severe HD [P = 0·0117, odds ratio (OR) = 3·13]. The AA genotype in the rs2298213 A/G SNP was significantly more frequent in patients with mild HD than in patients with severe HD (P = 0·010, OR = 4·43). All patients and healthy individuals had the GG genotype in rs60038293 A/G and rs11466696 A/G SNPs. The proportions of GITR(+) cells in T(reg) and T(eff) cells were significantly higher in AITD patients with the CC genotype of the rs3753348 SNP than in those with the GG genotype (P = 0·004 and P = 0·011, respectively). In conclusion, the rs3753348 C/G SNP in the GITR is associated with HD prognosis and expression on T(reg) and T(eff) cells.     

急性冠状动脉综合征与CD40基因多态性的相关性研究

目的CD40-CD40L信号通路在急性冠状动脉综合征（ACS）的发生发展中起着重要作用。笔者研究湖北地区汉族人群CD40-E1SNP（-1C/T）和E4SNP基因多态性与ACS的关系。方法应用聚合酶链反应限制性片段长度多态性（PCR-RFLP）方法,检测160例经冠状动脉造影确诊的ACS患者（其中男性125例,女性35例,平均年龄63.8岁）和92例冠状动脉造影阴性人群（其中男性72例,女性20例,平均年龄58.8岁）CD40-E1SNP（-1C/T）和E4SNP基因型和等位基因频率,结合血脂及炎性标志物水平分析两组人群CD40基因型和等位基因频率差异。结果CD40-1位点C等位基因频率在ACS组与对照组分别为0.606和0.489,T等位基因频率分别为0.394和0.511,两者差异有统计学意义（P〈0.05）;ACS患者CC基因型频率（0.281）明显高于对照组（0.13）,差异有统计学意义（P〈0.01）;而未检测到CD40-E4SNP基因多态性。结论CD40-1C/T基因多态性与ACS有相关性,C等位基因可能是汉族人群ACS的易感基因,而汉族人群可能不存在CD40-E4SNP基因多态性。     

白介素-32 基因多态性及血清水平与多发性硬化遗传易感性的关联性

目的:探讨IL-32 基因rs28372698A/ T、rs12934561C/ T 及rs11861531C/ T 三个位点的多态性与多发性硬化(MS)的遗传易感的关系,为MS 高危人群的确立提供理论依据。方法:入选580 例MS 患者和650 例健康对照,应用单碱基延伸法和DNA 测序对IL-32 基因位点进行基因分型,同时,采用酶联免疫吸附试验检测两组IL-32 的血清浓度。结果:IL-32 基因rs28372698A/ T 位点的基因型频率和对照组比较存在显著差异(P =0.007),其等位基因频率在两组间的分布频率存在统计差异(P =0.033)。rs12934561C/ T 与rs11861531C/ T 的各基因型及等位基因频率在两组间差异无统计学意义(P>0.05)。T-T-T单倍型在HCC 中的分布频率显著高于对照组(P = 0.012),T-T-T 单倍型与MS 的发病风险密切相关(OR = 1.968,95% CI:1.352-2.574)。MS 患者组的血清IL-32 水平明显高于对照组[(399.08±156.85)pg/ ml vs(239.99±88.35)pg/ ml,P =0.001]。AT 和TT 基因型的MS 患者IL-32 血清水平明显高于AA 基因型MS 患者[(465.53 ±172.40) pg/ mL vs (295.86 ±103.96)pg/ ml,P<0.01;(491.15±133.65)pg/ ml vs (295.86±103.96)pg/ ml,P<0.01]。结论:本研究首次报道了IL-32 基因rs28372698 位点多态性与MS 的关系,且IL-32 的基因多态性在MS 患者中对IL-32 的血清水平有影响。我们的研究为MS 遗传和个体化的诊疗提供了新的参考依据。     

DJ-1基因多态性与四川地区散发性帕金森病的相关性研究

目的 了解DJ-1基因3个多态位点(g.168-185del;SNP405,refSNPID:rs3766606;293G/A)的频率以及与帕金森病的相关性.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及DNA测序等技术对192例帕金森病患者和198名对照者的3个位点进行基因型的检测.结果 在g.168-185del位点,研究人群中Ins/Ins基因型较普遍,等位基因Del的频率很低(0.38%);在所检测的人群中未发现293G/A的多态性.上述结果与欧美国家的报道不一致.在SNP405 G/T多态位点中,在发病年龄小于40岁的帕金森患者群中G/T基因型频率显著高于对照组(18.75%vs5.54%,P=0.004,OR=6.30,95%CI:1.96～20.18).结论 g.168-185del和293G/A两多态性位点的频率在中国人群与欧美人群间可能存在差异;非翻译区SNP405 G/T多态性可能增加早发帕金森病的发病风险.     

CT60 single nucleotide polymorphism of the CTLA-4 gene is associated with susceptibility to Graves' disease in the Taiwanese population

Graves' disease (GD) is an autoimmune disease but the underlying etiology has not been completely elucidated. Genetic susceptibility has been believed to play a major role. Recent studies showed that the CT60 single nucleotide polymorphism (SNP), which is in the 3'-noncoding region of the CTLA-4 gene, is strongly associated with some immune-mediated diseases. The aim of this study was to test for association between GD susceptibility and polymorphisms of CTLA-4 (ie, the CT60 SNP and the exon 1 +49 SNP) in the Taiwanese population. Our results demonstrate significant differences in the frequencies of the genotypes and alleles between 107 GD patients and 101 control subjects in the CT60 and exon 1 +49 SNPs (p <0.05). Significant differences in phenotypes were only found for CT60 SNP (78.4% vs 67.8% between patients and controls; chi2 = 3.93, p = 0.047). Furthermore, we found that the G/G genotype of both CT60 and exon 1 +49 was associated with increased risk for GD (p = 0.022, OR = 1.97). Significant linkage disequilibrium was found between the CT60 SNP and the exon 1 +49 SNP in both GD patients and control subjects (D' = 1.00). Because of tight linkage disequilibrium, a combination of these SNPs enhanced the role of the CTLA-4 gene in GD. The frequency of the disease-susceptible G allele of CT60 was comparable to that in Japanese and higher than in Caucasians. In conclusion, we provide evidence that CT60 SNP is associated with susceptibility to GD in the Taiwanese population.     

Alternative splicing of the mouse embryonic poly(A) binding protein (Epab) mRNA is regulated by an exonic splicing enhancer: a model for post-transcriptional control of gene expression in the oocyte

Embryonic poly(A) binding protein (EPAB), expressed in oocytes and early embryos, binds and stabilizes maternal mRNAs, and mediates initiation of their translation. We identified an alternatively spliced form of Epab lacking exon 10 (c.Ex10del) and investigated the regulation of Epab mRNA alternative splicing as a model for alternative splicing in oocytes and early preimplantation embryos. Specifically, we evaluated the following mechanisms: imprinting; RNA editing and exonic splicing enhancers (ESEs). Sequence analysis led to the identification of two single nucleotide polymorphisms (SNPs): one was detected in exon 9 (rs55858A/G), and served as a marker for the parental origin of the alternatively spliced form, and the other was found in exon 10 (rs56574G/C), and co-segregated with the exon 9 SNP. We found that the presence of rs56574G in exon 10 led to the formation of an ESE, leading to efficient exclusion of exon 10. Real-time RT-PCR results revealed a 5-fold increase in the expression of the c.Ex10del alternative splicing variant in animals carrying rs56574G/G in exon 10 compared with rs56574C/C at the same locus. Our findings suggest that SNPs may alter the ratio between alternative splicing variants of oocyte-specific proteins. The role that these subtle differences play in determining individual reproductive outcome remains to be determined.     

EGLN1基因两个位点多态性与藏族人群高原低氧适应的关系

目的 探讨西藏藏族人群EGLN1基因2个SNP(单核苷酸多态性)位点rs479200（C/T）、rs480902（T/C）多态性与高原低氧适应的相关性。
方法 选取世居西藏拉萨藏族150人及辽宁汉族150人的血样,提取白细胞基因组DNA,应用限制性片段长度多态性-聚合酶链反应（PCR-RFLP）技
术检测EGLN1基因2个SNP位点,分析其多态性特征。结果 rs479200位点等位基因C等位基因频率在藏族人和汉族人分别为71.33%和38.17%,
rs480902位点等位基因T等位基因频率在藏族人和汉族人分别为66.67%和36.67%,两组比较差异显著（P<0.01）;rs479200位点TT、TC和CC基因
型频率在藏族人和汉族人分别为6.67%和56.67%、29.33%和33.33%、64%和10%,rs480902位点TT、TC和CC基因型频率在藏族人和汉族人分别为
60.67%和9.33%、30.66%和28.67%、8.67%和62%。两位点TC基因型两组比较差异无统计学意义;TT和CC基因型两组比较差异均显著（P<0.01）。
结论 EGLN1基因rs479200（C/T）和rs480902（T/C）SNP位点多态性与西藏藏族适应高原低氧环境存在相关性。rs479200位点的CC基因型和
rs480902位点的TT基因型可能更有利于适应低氧环境。     

TIM-4基因多态性与湖北地区汉族人群支气管哮喘易感性的研究

目的 探讨T细胞免疫球蛋白域及黏蛋白域蛋白-4(T cells immunoglobulindomain andmucindomain protein-4,TIM-4)基因外显子2区Lys65Lys(G/A)、外显子9区Val1365Met(G/A)的单核昔酸多态性(SNP)与湖北地区汉族人群支气管哮喘易感性的关系.方法 采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法对湖北地区185例哮喘患者和162例健康者TIM-4基因外显子2区Lys65Lys(G/A)、外显子9区Vai365Met(G/A)的多态性进行分析,计算基因型和等位基因频率.结果 (1)湖北地区汉族人群健康者TIM-4基因外显子2区Lys65Lys(G/A)位G/G、G/A、A/A基因型频率分别为0.840、0.160、0,而哮喘人群其频率分别为0.859、0.141、0,其基因型和等位基因型频率与对照组相比差异均无统计学意义(P=0.603,P=0.618);(2)本试验未检测到TIM-4外显子9区Va1365Met(G/A)的多态性.结论 湖北地区汉族人群TIM-4基因外显子2区Lys65Lys(G/A)存在单核苷酸多态性变异,但该位点的变异与湖北地区汉族人群支气管哮喘易感性无关;TIM-4基因外显子9区Va1365Met(G/A)在湖北地区汉族人群中未发现单核苷酸多态性.     

Common genetic polymorphism of ITPA gene affects ribavirin-induced anemia and effect of peg-interferon plus ribavirin therapy

An association between a single nucleotide polymorphism (SNP) in the inosine triphosphate pyrophosphatase (ITPA) gene and reduction of hemoglobin during peg‐interferon plus ribavirin combination therapy for patients with chronic hepatitis C virus (HCV) infection has been reported. However, the effect of the SNP on outcome of therapy has not been fully elucidated. Factors associated with anemia during combination therapy, including rs1127354 genotype, were analyzed in 1,002 treated patients. The effect of the SNP on outcome of therapy was analyzed in a subset of 830 patients with genotype 1. A rapid initial decrease in hemoglobin levels was observed in patients with rs1127354 genotype CC compared with a slow decrease in non‐CC patients. Cumulative reduction of ribavirin was significantly more frequent in genotype CC patients than non‐CC patients (odds ratio 1.928, P = 8.6 × 10^?8). The frequency of patients who received at least the recommended 80% of scheduled ribavirin was significantly lower among genotype CC patients, especially among those who had pretreatment hemoglobin levels between 13.5 and 15 g/dl (P < 0.03), and the sustained viral response rate was significantly lower in this group of patients. Independent predictive factors for sustained virological response included a SNP in the IL28B locus (rs809991), age, fibrosis, ITPA SNP rs1127354 as well as pretreatment hemoglobin levels. Our data suggests that measures to prevent anemia should be considered for patients who have pretreatment hemoglobin levels less than 13.5 g/dl or who have rs1127354 genotype CC and pretreatment hemoglobin levels between 13.5 and 15 g/dl. J. Med. Virol. 83:1048–1057, 2011. © 2011 Wiley‐Liss, Inc.     

FcRL3基因三个单核苷酸多态性与重庆汉族人群Graves病关联研究

目的 了解中国重庆地区汉族人群Fc受体样因子(Fc receptor-like proteins,FcRL3)基因启动子A/G,第2外显子C/G,第4外显子C/T多态性与Graves病(Graves disease,GD)的相关性.方法 采用聚合酶链反应限制性片段长度多态性分析方法结合直接测序技术,对重庆地区无亲缘关系的120名正常人和128例GD患者进行多态性研究,同时进行甲状腺功能和自身抗体的检测,应用Unphased1122和LDA1.0软件进行连锁不平衡和单倍型分析,用卡方检验分析基因型、等位基因和单倍型频率在GD组和对照组之间的差异.结果 GD组FcRL3基因3个多态性位点基因型和等位基因的频率与对照组相比,其差异均有统计学意义(P＜0.05).连锁不平衡分析显示启动子和第2外显子存在连锁不平衡,在构建的3个主要单倍型中,仅H2(G-G)单倍型频率GD组明显高于对照组(50.8%vs 35.8%,P＜0.05).除甲状腺疾病家族史与启动子多态性有关联(P%0.05),余临床特征与FcRL3多态性均无相关.结论 多个位点及单倍型分析提示FcRL3基因启动子A/G,第2外显子C/G,第4外显子C/T多态性可能是中国重庆地区汉族人群GD关联的危险因素.     

ATM基因rs227060位点单核苷酸多态性与肺癌易感性的相关性

目的:探讨共济失调毛细血管扩张症突变基因(ataxia telangiectasia mutated,ATM)rs227060位点单核苷酸多态性(single nucleotide polymorphisms,SNPs)与肺癌易感性之间的相关性.方法:采用聚合酶链反应-SNP敏感性分子开关方法,检测225例肺癌患者和128例健康体检者ATM基因rs227060多态位点等位基因以及基因型频率分布特点;并应用非条件Logistic回归法统计分析rs227060单核苷酸多态性与肺癌的相关性.结果:rs227060多态位点共检测出CC,CT,TT三种基因型和C,T两种等位基因,其在肺癌组与对照组的基因型分布频率为:CC基因型17.3％与29.7％、CT基因型61,4％与59.3％、TT基因型21.3％与11％,两组间基因型频率和等位基因频率分布差异均有统计学意义(P＜0.05).在对ATM rs227060基因型的多态性分析过程中发现:吸烟史在肺癌组与对照组相比差异无统计学意义(P＞0.05),而年龄、性别、肿瘤家族史在肺癌组与对照组相比差异均有统计学意义(P＜0.05);且以CC基因型作为对照,携带TT基因型的个体患肺癌的风险是携带CT基因型个体的3.49倍(OR=1.829;95％CI:1.045～3.199).结论:ATM基因rs227060位点单核苷酸多态性与肺癌易感性存在相关性,且携带TT基因型可增加肺癌的发病风险.     

Association study of aromatase gene (CYP19A1) in essential hypertension

Background: As aromatase-deficient mice, which are deficient in estrogens, reportedly have reduced blood pressure, the aromatase gene (CYP19A1) is thought to be a susceptibility gene for essential hypertension (EH). The aim of the present study was to investigate the relationship between CYP19A1 and EH by examining single nucleotide polymorphisms (SNPs).Methods: Five SNPs in the human CYP19A1 gene (rs1870049, rs936306, rs700518, rs10046 and rs4646) were selected, and an association study was performed in 218 Japanese EH patients and 225 age-matched normotensive (NT) individuals.Results: There were significant differences between these groups in the distribution of genotypes rs700518 and rs10046 in male subjects, and genotypes rs700518, rs10046 and rs4646 in female subjects. On multiple logistic regression analysis, a significant association between rs700518 (p=0.023) and rs10046 (p=0.036) in male subjects and rs700518 in female subjects (p=0.018) was noted. Interestingly, the risk genotypes of rs700518 and rs10046 showed a sex-dependent inverse relationship. Both SBP and DBP levels were higher in total (cases and controls) male subjects with the G/G genotype with rs700518 or the T/T genotype with rs10046 than in male subjects without the G/G genotype or T/T genotype. SBP levels were lower in female subjects with the G/G genotype with rs700518 than in female subjects without G/G. The A-T haplotype constructed with rs1870049 and rs10046 was a susceptibility marker for EH.Conclusions: We confirmed that rs700518 and rs10046, as well as a haplotype constructed with rs1870049 and rs10046, in the human CYP19A1 gene can be used as genetic markers for gender-specific EH.     

IL-6634C/G基因多态性与子宫内膜异位症易感性的相关研究

目的 探讨中国南方汉族妇女白细胞介素-6(interleukin-6,IL-6)基因启动子区634C/G (rs1800796)位点单核苷酸多态性(single nucleotide polymorphism,SNP)与子宫内膜异位症(endometriosis,Ems)遗传易感性的相关性.方法 收集经手术证实的432例Ems患者和499名对照人群外周血,采用荧光定量PCR为基础的高分辨率熔解曲线分析(high resolution melting,HRM)技术检测IL-6 634C/G基因SNP.结果 IL-6 634C/G位点等位基因、携带等位基因G及其基因型的分布在Ems组和对照组间差异均有统计学意义(P=0.032、0.014和0.045),其中等位基因C使Ems发病风险提高1.057倍,而等位基因G使其降低0.835倍;携带等位基因G使Ems发病风险降低0.822倍,而不携带使其提高1.143倍;CG与CC基因型相比患Ems的危险度低0.704倍(95％CI:0.533～0.931).但IL-6 634C/G位点携带等位基因C的分布在两组间差异无统计学意义(P=0.729).结论 中国南方汉族妇女IL-6 634C/G位点SNP与Ems遗传易感性存在相关性.     

Cyclooxygenase-2 polymorphisms in Parkinson's disease.

Accumulating evidence indicate that cyclooxygenase-2 (COX-2) is of pathophysiological importance for the neurodegeneration in Parkinson's disease (PD). For example, in a large epidemiological study, use of NSAIDs was associated with a lower risk of PD. Genetic variants of the COX-2 gene might therefore influence the risk of developing the disease. The genotype distribution of four common single nucleotide polymorphisms (SNPs) in the COX-2 gene (rs689466:A496G, rs20417:G926C, rs5277:G3050C, rs5275:C8473T) was analyzed in PD patients and control subjects in a Swedish population. No differences could be seen between the PD-patient and controls regarding the A496G, G926C, and G3050C SNPs, but the allele frequency of the C8473T SNP was found to differ when male patients were compared to controls (P = 0.007). In females no difference could be seen between PD-patients and controls. In conclusion, the results suggest a possible influence of the COX-2 C8473T SNP in PD, although it only seems to be of importance in men.     

Single nucleotide polymorphisms in VEGF gene are associated with an increased risk of osteosarcoma

We aimed to assess whether the five common SNPs can affect the risk of osteosarcoma, and its association with demographic characteristics of osteosarcoma. 165 osteosarcoma patients and 330 cancer-free controls were enrolled into our study. Five common SNPs in VEGF gene, -2578C/A (rs699947), -1156G/A (rs1570360), +1612G/A (rs10434), +936C/T (rs3025039) and -634G/C (rs2010963), were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Conditional logistic regression analyses found that individuals with AA genotype and A allele of rs699947 were associated with an increased risk of osteosarcoma. Individuals with GG genotype and G allele of rs2010963 were associated with an increased risk of osteosarcoma. By stratified analysis, AA genotype of rs699947 was associated with an increased risk of osteosarcoma in those with shorter age, males and a family history of cancer, and GG genotype of rs2010963 was correlated with an increased risk of osteosarcoma in those with shorter age, females and a family history of cancer. Our study suggests that rs699947 and rs2010963 polymorphisms may play a role in the pathogenesis of osteosarcoma.     

血清、脑脊液肿瘤坏死因子-α水平及其-308G/A基因多态性与多发性硬化的相关性

目的研究中国广东汉族人群中血清、脑脊液(cerebrospinalfluid,CSF)肿瘤坏死因子-α(tumornecrosisfactor-α,TNF-α)水平及其-308G/A基因多态性与多发性硬化之间的相关性。方法采用双抗体夹心ABC-ELISA法测定68例无亲缘关系的急性发作期多发性硬化(multiplesclerosis,MS)患者和55例非免疫系统疾病患者的血清、CSF的TNF-α水平,同时应用聚合酶链反应-限制性片段长度多态性技术检测上述68例MS患者和106名无血缘关系的广东籍健康汉族人的TNF-α-308G/A基因型。结果发作期MS患者血清中TNF-α水平与非免疫系统疾病患者组间差异有统计学意义(P<0·05),分别是(276±71)pg/mL和(234±76)pg/mL;发作期MS患者CSF中TNF-α水平与非免疫系统疾病患者组差异无统计学意义(P>0·05),分别是(265±78)pg/mL和(245±83)pg/mL;TNF-α-308G/A各等位基因型频率在MS组和正常人组比较差异无统计学意义(P>0·05),MS组TNF-α基因AA基因型和A等位基因频率分别为4.4%和14·0%,正常人对照组分别为0和8.5%。结论(1)发作期MS与血清中TNF-α水平相关,与CSF中TNF-α水平不相关。(2)从目前调查的例数中,中国广东汉族人群TNF-α基因-308G/A多态性与广东人群中MS不相关。