CYP2C19、CYP3A5基因多态性与心肌梗死的相关性研究

目的探讨CYP2C19、CYP3A5基因的多态性与心肌梗死发病风险的相关性。方法随机选取心肌梗死患者及健康对照各500例,采用荧光PCR法和Sanger测序分别检测其CYP2C19、CYP3A5基因的多态性,用Logistic回归分析其与心肌梗死的相关性,用Quanto软件评估统计学效能。结果CYP2C19基因rs4986893位点的AG、GG基因型和A等位基因的频率以及CYP3A5基因rs776746位点的AA、AG、GG基因型和G等位基因频率在两组之间的差异具有统计学意义(P<0.05),CYP2C19基因rs4244285、rs12248560位点的基因型和等位基因以及rs4986893位点的AA基因型的频率在两组之间差异无统计学意义(P>0.05)。在校正年龄、性别、体质指数后,Logistic回归分析显示CYP2C19基因rs4986893的AG基因型和A等位基因以及CYP3A5基因rs776746的GG基因型和G等位基因可能是心肌梗死发病的风险因素,而rs4986893的GG基因型以及rs776746的AA、AG基因型可能是心肌梗死的保护因素。依据样本量、样本结构和等位基因频率以及Quanto分析,本研究的结果具有理想的统计学效能(99%)。结论CYP2C19、CYP3A5基因的多态性可能增加心肌梗死的发病风险。     

CYP2C9 1061 A/C与VKORC1-1639 G/A基因多态性对华法林应用剂量的影响

目的探讨维生素K环氧化物还原酶复合物1基因(VKORC1)-1639G/A与细胞色素P450酶2C9基因(CYP2C9)1061A/C多态性对中国汉族人华法林应用剂量的影响。方法应用PCR-RFLP方法检测129例长期口服华法林的患者VKORC1-1639G/A及CYP2C91061A/C多态性,并按基因型分组,分别比较VKORC1和CYP2C9不同基因型间平均华法林剂量。结果病例组检出VKORC1-1639AA、AG、GG型分别有96例(74.4%)、30例(23.3%)、3例(2.3%),等位基因A和G频率分别为86%、14%,CYP2C91061AA、AC、CC型分别有117例(90.7%)、11例(8.5%)、1例(0.8%),等位基因A和C频率分别为95%、5%;病例组与正常人组VKORC1-1639、CYP2C91061各基因型分布差异无统计学意义;VKORC1-1639不同基因型间患者所需华法林平均剂量AA型低于AG型,后者又要低于GG型;携带CYP2C91061C等位基因的患者(AC和CC型)华法林平均剂量要低于AA型。结论华法林应用剂量偏低可能与VKORC1-1639G→A和CYP2C91061A→C转变有关,VKORC1-1639AA型占多数可能是中国汉族人群所需华法林剂量普遍较低的重要原因。     

温州地区汉族正常人群CYP1A2基因多态性分布特征

目的检测CYP1A2基因多态性在温州地区汉族正常人群的分布特征。方法采用聚合酶链反应（PCR）产物直接测序法检测108例随机血液样本DNA中CYP1A2基因序列单核苷酸多态性位点（SNP）的分布。对检测到的3个多态位点2159G〉A、3613T〉C、5347C〉T,进一步采用PCR技术分析472例正常人位点的基因型频率和等位基因频率。结果 （1）2159 G〉A位点：G和A等位基因的频率分别为93.8%,6.2%,GG、GA、AA基因型频率分别为87.7%、12.1%、0.2%（χ2=0.325,P〉0.05）;（2）3613 T〉C位点：T和C等位基因的频率分别为97.9%、2.3%,TT、TC、CC基因型频率分别为95.3%、4.4%、0.3%（χ2=0.298,P〉0.05）;（3）5347 C〉T位点：C和T等位基因的频率分别为87.9%、12.1%。CC、CT、TT基因型分布频率分别为77.8%、20.3%、1.9%（χ2=0.742,P〉0.05）;（4）2159 G〉A、5347 C〉T组成的单倍型频率为3.2%。结论温州地区汉族正常人群CYP1A2基因存在2159G〉A、3613T〉C、5347C〉T多态位点。     

CYPl7、CYPlA2酶基因多态性与子宫内膜异位症的关系

目的探讨CYPl7 T-34C、CYPIA2 G-2964A基因多态性与子宫内膜异位症遗传易感性的关系。方法抽取108例确诊为子宫内膜异位症患者及84例对照组女性的静脉血,提取全基因组DNA,分别用聚合酶链式反应（PCR）技术扩增CYPl7 T-34C、CYPIA2 G-2964A多态位点的基因片段,并对其进行酶切,根据酶切结果计算出各等位基因的表型频率,用X2检验及OR值分析其多态性与子宫内膜异位症的关系。结果病例组和对照组CYPl7基因的基因型及等位基因的频率分布比较差异有统计学意义（P〈O.05）。病例组和对照组CYPIA2基因型、等位基因频率的比较差异无统计学意义（P〉0.05）。结论CYPl7 T-34C可能与III、IV期子宫内膜异位症发病风险相关。CYPlA2 G-2964A多态性可能不是子宫内膜异位症独立的危险因素。     

肿瘤坏死因子受体基因单核苷酸多态性与肺炎严重程度的相关性

 目的：比较肿瘤坏死因子受体（tumor necrosis factor receptor, TNFR）基因多个等位基因在肺炎人群中的分布频率,分析基因多态性与肺炎发病率和病情严重程度的相关性。方法：纳入66例肺炎患者与66例既往无肺炎的健康体检者,抽提各研究对象外周血DNA,通过聚合酶链式反应-限制性片段长度多态性或基因测序的方法检测TNFR1+36A/G、TNFR1-609G/T、TNFR2+676T/G、TNFR2 +1663T/G、TNFR2 +1668A/G和TNFR2 +1690C/T各多态性位点在肺炎患者与健康体检者、重症肺炎与非重症肺炎患者中的分布频率,并统计分析各基因分布频率与肺炎发生率和严重程度的相关性。结果：TNFR1-609G与T等位基因在肺炎患者中分布频率分别为40.9%与59.1%,在健康体检者中的分布频率分别为53.8%与46.2%; TNFR1-609T等位基因在肺炎患者中的分布频率较高（P<0.05）。余基因的各等位基因在肺炎患者与健康体检者中的分布频率差异无统计学意义。TNFR1-609G与T等位基因在重症肺炎患者中分布频率分别为25.0%与75.0%,在非重症肺炎患者中的分布频率分别为46.0%与54.0%,T等位基因在重症肺炎患者中的分布频率较高（P<0.05）。TNFR2 +1690C与T等位基因在重症肺炎患者中分布频率分别为81.1%与18.9%,在非重症肺炎患者中的分布频率分别为61.0%与39.0%,C等位基因在重症肺炎患者中分布频率较高（P<0.05）,余基因的各等位基因在重症肺炎与非重症肺炎患者中的分布频率差异无统计学意义。结论：携带TNFR1-609T等位基因的个体更易罹患肺炎,而携带TNFR1-609T及TNFR2 +1690C等位基因的个体肺炎病情较严重,易进展为重症肺炎。     

黑龙江省汉族原发性高血压与CYP11B2基因多态性研究

目的探讨黑龙江汉族原发性高血压患者醛固酮合成酶(CYP11B2)基因(-344 T/C)多态性特点。方法采用限制性内切酶技术检测高血压组和对照组CYP11B2基因(-344T/C)的基因型和等位基因频率。结果高血压组基因型频率及等位基因频率的分布与正常组比较有显著差异(均P0.05)。结论黑龙江省原发性高血压的发病可能与CYP11B2基因(-344T/C)多态性有关,CYP11B2作为高血压的强候选基因,其多态性(-344T/C)通过影响醛固酮的合成分泌水平,影响肾素、血管紧张素、醛固酮三者的动态平衡,影响水钠代谢,在高血压发病的病理过程中起关键作用。     

CYP11B2基因-344T/C多态性与扩张型心肌病关联研究

目的研究CYP11B2基因4/344T/C多态性是否与汉族人扩张型心肌病关联。方法多聚酶链反应-限制性片段长度多态性技术检测扩张型心肌病和健康对照组CYP11B2基因4/344T/C多态性,χ^2验比较各组基因型和等位基因频率。结果对照组TT、TC与CC基因型频率分别为49%、46%和5%,扩张型心肌病组TT、TC与CC基因型频率分别为49%、44%和7%,经χ^2验两组之间基因型分布差异无显著性（P〉0.05）。对照组T、C等位基因频率分别为72%和28%,扩张型心肌病组T、C等位基因频率分别为71%和29%,经χ^2验两组之间等位基因分布差异亦无显著性（P〉0.05）。结论本研究尚不支持CYP11B2基因4/344T/C多态性与汉族人扩张型心肌病存在关联。     

CYP1A1基因多态性与急性淋巴细胞白血病的关系

目的　探讨CYP1A1基因多态性与急性淋巴细胞白血病 (ALL)遗传易感性的关系。方法　应用PCR -RFLP、ASA技术 ,分析 78例ALL患者和 112例健康人CYP1A1基因多态性 ,比较ALL患者与对照组间频率差异。结果　ALL组CYP1A1MspI基因多态位点 ,各等位基因和基因型频率与对照组比较有显著性差异 (P <0 .0 5 ) ,其中等位基因m2使患ALL的危险度提高了 1.5 4倍 ,m1m2、m2m2基因型使患ALL的危险度分别提高了 2 .2 7倍和 2 .77倍 ;ALL组CYP1A1Ile-Val各等位基因和基因型频率与对照组比较无显著性差异 (P >0 .0 5 )。结论　CYP1A1MspI基因多态可能与ALL的发生有关。     

UCH-L1基因多态性与帕金森病的关联研究

目的 探讨泛素蛋白羧基水解酶L1(ubiquitin carboxy-terminal hydrolase-L1,UCH-L1)基因第3外显子54C/A及第4外显子277C/G多态与中国北方汉族人群散发性帕金森病(Parkinson'S disease,PD)的关联.方法 应用聚合酶链反应-限制性片段长度多态性方法,对75例散发性PD和100名健康对照者UCH-L1 C/A和C/G两个位点的基因型和等位基因分布频率进行检测.结果 (1)UCH-L1 C/A位点等位基因和基因型分布,在PD与对照组间差异有统计学意义(P<0.05),PD组的A等位基因和AA基因型明显低于对照组(P<0.05).(2)在对散发性PD与对照组UCH-L1基因分析中,未发现C/G的多态性.结论 (1)UCH-L1 C/A基因多态性与中国北方汉族人群散发性PD患者遗传易患性有关.(2)UCH-L1 C/G基因多态性与中国北方汉族人群散发性PD患者遗传易患性不关联.     

肿瘤坏死因子-α基因多态性与安徽地区汉族人群Graves病易感性及患病早期TRAb水平的关联

目的 检测肿瘤坏死因子-a(tumour necrosis factor-α,TNF-α)基因启动子区的—863C/A、—857C/T、—238G/A等3个位点的单核苷酸多态性与格雷夫斯氏病(Graves disease,GD)与安徽地区汉族人群中发病的相关性,以探讨与GD有关的遗传背景.方法 应用聚合酶链式反应-序列特异性引物法(polymerase chain reaction and sequence specific primers,PCR-SSP)检测254例Graves病患者和212名正常对照TNF-α基因启动子区—863C/A、—857C/T、—238G/A三个位点的单核苷酸多态性,比较GD患者组与正常对照组、不同性别的GD患者之间的等位基因和基因型频率的分布情况.同时采用放射性免疫法测定早期GD患者的促甲状腺激素受体抗体(thyroid stimulating hormone receptor antibody,TRAb)水平,比较不同TRAb水平患者TNF-α基因这3个多态位点等位基因及基因型的频率分布情况.结果 (1)GD组—863 C/A位点A等位基因频率(16.73％)高于正常对照组(11.79％)(P＜0.05,OR=1.503);GD组AA+CA基因型频率(32.68％)明显高于正常对照组(23.58％) (P＜0.05,OR=1.573).—857 C/T、—238G/A位点等位基因及基因型频率在GD组与正常对照组间的差异均无统计学意义(P＞0.05).(2)将GD组按性别分组比较,结果显示3个位点的基因型及等位基因频率在男、女性间差异均无统计学意义(P＞0.05).(3)将早期GD患者按TRAb水平分组比较,结果显示3个位点的等位基因和基因型频率差异均无统计学意义(P＞0.05).结论 TNF-α基因—863C/A单核苷酸多态性可能与安徽地区汉族人群GD的发病具有相关性,而—857C/T、—238G/A位点的单核苷酸多态性与之无相关性;患者早期TRAb水平和GD患者的性别与TNF-α基因—863C/A、—857C/T、—238G/A三个位点的单核苷酸多态性无关联.     

Genetic association analysis of functional polymorphisms in the cytochrome P450 1A2 (CYP1A2) gene with tardive dyskinesia in Japanese patients with schizophrenia

OBJECTIVE: Recent studies have revealed positive associations between tardive dyskinesia (TD) and genetic polymorphisms of several cytochrome P450 (CYP) subfamilies that are involved in pharmacokinetic process of antipsychotic drugs. In the present study, we analyzed the relationship between TD and two polymorphisms of the CYP1A2 gene, 734C/A and -2964G/A, in a sample of Japanese patients with schizophrenia. METHODS: We studied 199 Japanese patients with schizophrenia. We used the Abnormal Involuntary Movement Scale to evaluate TD. Two polymorphisms of the CYP1A2 gene, 734C/A and -2964 G/A were genotyped by means of polymerase chain reaction and restriction fragment length polymorphism analysis. RESULTS: Neither the 734C/A nor the -2964G/A polymorphism was associated with TD [734C/A genotype: chi2=0.02, degrees of freedom (df)=2, P=1.00; allele: chi2=0.02, df=1, P=0.89; -2964G/A genotype: chi2=0.21, df=2, P=0.90; allele: chi2=0.15, df=1, P=0.70]. In addition, CYP1A2 haplotype was associated with TD (chi2=0.24, df=3, P=0.97). Furthermore, in both the subgroup of smokers and the subgroup of patients receiving high-dosage antipsychotics (chlorpromazine equivalent >1000 mg), neither the 734C/A nor the -2964G/A polymorphism was associated with TD. CONCLUSIONS: We did not find significant associations between the 734C/A and -2964G/A polymorphisms of CYP1A2 gene and TD in Japanese patients with schizophrenia. Our results suggest that these CYP1A2 gene polymorphisms may not contribute to TD susceptibility.     

Association of a Polymorphism in the Intron 7 of the SREBF1 Gene with Osteonecrosis of the Femoral Head in Koreans

Reduction or disruption of the blood supply to the bone is involved in the pathogenesis of osteonecrosis of the femoral head (ONFH). An altered lipid metabolism is one of the major risk factors for ONFH. Sterol regulatory element binding protein, SREBF1 activates genes regulating lipid biosynthesis. The aim of this study was to examine the association between the polymorphisms of the SREBF1 gene and ONFH susceptibility in the Korean population. The SREBF1 gene in 24 unrelated Korean individuals was sequenced and two polymorphisms were detected. Two variants, IVS6 − 48 C > T and IVS7 + 117 A > G, were genotyped in 423 ONFH patients and 348 controls. The genotype frequency of IVS7 + 117 A > G in ONFH patients was significantly different from that of the control group with P value < 0.0001 (Adjusted OR; 6.88, 95% CI; 3.74-12.67). Moreover, the IVS7 + 117 A > G genotype showed an association with men, and further analysis stratified by etiological factors indicated that the genotype data was significantly associated with a high risk for patients with alcohol-induced ONFH ( P < 0.0001). We found that the IVS7 + 117 A > G polymorphism of the SREBF1 gene is associated with an increased risk of ONFH in the Korean population.     

Manganese superoxide dismutase and cytochrome P450 1A1 genes polymorphisms in rheumatoid arthritis in Taiwan

To investigate the role of manganese superoxide dismutase (MnSOD) and cytochrome P450 1A1 (CYP1A1) gene polymorphisms in the pathogenesis of rheumatoid arthritis (RA) in Taiwan, MnSOD and CYP1A1 genes polymorphisms were determined by he polymerase chain reaction/restriction fragment length polymorphism method in 112 patients with RA and 96 controls. There were no significant differences in the genotype, allele, and phenotype frequencies of MnSOD Ala-9Val (C1183T) polymorphisms between patients with RA and controls. The polymorphism of MnSOD 5777T, threonine at the 58th amino acid, cannot be found in RA patients and controls in Taiwan. The allele and phenotype frequencies of CYP1A1 4887A and genotype frequency of CYP1A1 4887C/A were lower in RA patients than in controls, whereas the significant difference was lost after correction. MnSOD C1183T polymorphisms were not associated with the clinical manifestations of RA. However, RA patients with CYP1A1 4889G/G have significantly higher frequency of Sj?gren's syndrome, especially in the presence of MnSOD 1183T/T. Patients with CYP1A1 4887C/A also have a trend to develop Sj?gren's syndrome in the presence of MnSOD 1183T/T. The linkage disequilibrium between CYP1A1 4889G and CYP1A1 6235C can be found in this study. MnSOD gene polymorphisms are not related to susceptibility to RA in Taiwan, whereas individuals with CYP1A1 4887A tend to avoid the development of RA. Moreover, CYP1A1 4889G/G and 4887C/A may play a role in the development of Sj?gren's syndrome, especially in the presence of MnSOD 1183T/T. These findings are preliminary. A further confirmation study is necessary.     

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.     

ABCB1 polymorphisms associated with osteonecrosis of the femeral head

Aims: This case-control study was conducted to investigate the relation of ATP-binding cassette subfamily B member 1 (ABCB1) C1236T and C3435T polymorphisms and non-traumatic osteonecrosis of the femeral head (ONFH). Methods: We gathered 113 ONFH patients and 116 controls in the study. The polymorphisms of ABCB1 were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technology. Odds ratio (OR) with 95% confidence interval (CI) were adopted to analyze the correlation between ABCB1 polymorphisms and ONFH. Results: In the study, we found that the frequency of C3435T TT genotype was much lower in case group, compared with that of controls (17.7% vs. 23.3%). Moreover, OR and 95% CI values indicated that C3435T TT genotype served as a protective factor for ONFH (OR=0.34, 95% CI=0.15-0.75). Meanwhile, the risk for the T allele carriers was much lower than C allele (OR=0.60, 95% CI=0.42-0.87). However, C1236T polymorphism showed no significant effects on the pathogenesis of ONFH. In the haplotype analysis, T-T haplotype appeared to be an inhibitor for ONFH (OR=0.45, 95% CI=0.23-0.87). Conclusions: Based on the results, ABCB1 polymorphisms were associated with the risk for ONFH.     

Polymorphisms of Aspirin-Metabolizing Enzymes CYP2C9, NAT2 and UGT1A6 in Aspirin-Intolerant Urticaria

Acetyl salicylic acid (ASA) is metabolized by UDP-glucuronosyltransferase 1A6 (UGT1A6), cytochrome P4502C9 (CYP2C9), and N-acetyl transferase 2 (NAT2). Variations in the activities of these enzymes may modulate adverse ASA-related symptoms such as urticaria. We examined whether polymorphisms in the UGT1A6, CYP2C9, and NAT2 genes are related to ASA-intolerant urticaria (AIU). The genotypes of 148 subjects with AIU (AIU group) and 260 normal healthy control subjects (NC group) were analyzed with respect to the following single nucleotide polymorphisms: CYP2C9 -1188T>C and CYP2C9(*)3A1075C; UGT1A6 T181A A>G and UGT1A6 R184S A>C; and NAT2 9796A>T, NAT2 197G>A, NAT2 286G>A, NAT2 9601A>G, and NAT2 9306A>G. There were significant differences in the allele frequencies for the CYP2C9 polymorphisms between the two groups. The frequency of the minor allele CYP2C9 -1188T>C was significantly higher in the AIU group than in the NC group (P=0.005). The frequency of the variant genotype CC was higher in the AIU group compared with the controls in both the co-dominant (P=0.007) and recessive models (P=0.012). The frequency of haplotype 2 [CA] was also significantly higher in the AIU group in both the co-dominant (P=0.006) and dominant models (P=0.012). There was no significant difference in genotype frequencies for any of the UGT1A6 or NAT2 polymorphisms between the two groups. Clinical parameters did not differ according to genotype. These results suggest that the C allele of CYP2C9 -1188T>C may be associated with AIU.     

The MDR1 polymorphisms at exons 21 and 26 predict steroid weaning in pediatric heart transplant patients

Various polymorphisms of the MDR1 gene that encodes for P-glycoprotein (P-gp), a transmembrane pump, have been identified. A silent mutation C3435T in exon 26 and a G2677T mutation in exon 21 have been correlated with P-gp expression and function in humans. The objectives of this study were (a) to determine whether the MDR1 exon 21 and exon 26 polymorphisms were related to steroid weaning in a pediatric heart transplant (HTx) population, and (b) to determine whether an association exist between the MDR1 exon 21 and exon 26 polymorphisms in these patients. Sixty-nine pediatric HTx patients were studied. MDR1 genotyping was determined by polymerase chain reaction amplification, sequencing the DNA, and sequence evaluation using Polyphred software (University of Washington) to identify genotypes. The steroid dose at 1 year post-transplantation was recorded. For steroid weaning at one year post-HTx for MDR1 C3435T, 12 of 18 (67%) patients in the CC genotype were still on prednisone, whereas only 18 of 47 (38%) of the CT/TT group were still receiving prednisone (p = 0.04). Similar results were observed for the MDR1 G2677T genotyping and steroid weaning. Forty-three of 46 patients (93.5%) who have MDR1 C3435T allele also have a mutant G2677T allele (p < 0.001). We conclude that (a) a significantly larger number of MDR1 3435 CC HTx patients remain on steroids at 1 year after transplantation, and (b) the MDR1 C3435T genotype is associated with the G2677 genotype in pediatric HTx patients.     

Gene Polymorphism of Interleukin-4, Interleukin-4 Receptor and STAT6 in Children with Atopic Dermatitis in Taif,Saudi Arabia

Aim of study: This work was performed to evaluate the level of IL-4, and to clarify the role of IL-4 gene polymorphism at position cytosine –590-to-thyamine (C-590T), IL-4Rα gene polymorphism at position adenine +4679-to-guanine (A+4679G) [isoleucine-50-valine (I50V)] and STAT6 gene polymorphism at position guanine 2964-to-adenine (G2964A) in Saudi children with non-atopic dermatitis (non-AD) and atopic dermatitis (AD) to identify their role in the pathogenesis of these diseases.

Subjects and methods: This study included 150 children: 50 healthy children as controls, 50 with non-AD, and 50 with AD. They were subjected to full clinical examination, complete blood picture, skin prick test, and determination of serum interleukin-4 (IL-4) and total immunoglobulin-E (IgE) levels. Detection of interleukin-4 gene (C-590T), interleukin-4 receptor alpha gene (A+4679G) (I50V), and STAT6 gene (G2964A) polymorphisms were performed by PCR-based restriction fragment length polymorphism (PCR-RFLP).

Results: There was a significant (P < 0.01) association between genotype and allele frequencies of IL-4Rα (A+4679G) (I50V) polymorphism in the AD group (but not non-AD group). Moreover, there was a significant association between genotype and allele frequencies of the STAT6 (G2946A) polymorphism in the non-AD (P < 0.05) and AD (P < 0.01) groups. On the other hand, there was no significant association between genotype and allele frequencies of the (C-590T) polymorphism in the non-AD group and AD group. There was a significant (P < 0.001) higher total IgE level in patients compared to the controls. Moreover, the mean values of total IgE were significantly different among the different allelic variants of (C-590T), (I50V), (G2964A) polymorphisms of IL-4, IL-4Rα, and STAT6 genes, respectively, in all the studied groups. On the other hand, there was no significant difference of serum IL-4 levels among all the studied patients, or among the different allelic variants of (C-590T), (I50V), (G2964A) polymorphisms of IL-4, IL-4Rα, and STAT6 genes, respectively.

Conclusion: IL-4Rα gene (I50V) and STAT6 gene (G2964) polymorphisms may play a role in development of eczema; however, the IL-4 gene polymorphism (C-590T) had no relationship with susceptibility to the disease among Saudi children.