IL-1B＋3954C/T和IL-1B-511C/T基因多态性和种植体周围炎的相关性研究

目的：探讨研究种白介素1（IL-1）基因＋3954和-511位点单核酸多态性和种植体周围炎的关系以及临床意义。方法：采用病例对照实验设计,选取种植体炎患者以及对照组各50名,应用聚合酶链反应—限制性内切酶片段长度多态性基因分析方法研究两组IL-1B基因＋3954位点和-511位点基因型和等位基因分布特点,并探讨其与种植体周围炎的相关性。结果：IL-1B基因＋3954位点CC、CT基因型检出率为93%和7%,无TT基因型,两种基因型和C、T等位基因频率在组间分布差异无统计学意义（P〉0.05）;IL-1B基因-511位点主要以CT为主,检出率为58%,CC、CT基因型检出率都为21%。结论：排除吸烟,牙周炎病史等影响因素后,IL-1B基因＋3954位点和-511位点的多态性与种植体周围炎炎的易感性无关。     

白细胞介素8基因-251位点多态性与侵袭性牙周炎的相关性研究

目的研究白细胞介素8（interleukin-8,IL-8）-251位点基因多态性与侵袭性牙周炎易感性的相关性。方法采用病例对照试验设计,从广东汉族人群中选择77例侵袭性牙周炎（aggressive periodontitis,AgP）患者（AgP组）及50例牙周健康者（健康对照组）,采用聚合酶链反应—限制性内切酶片段长度多态性方法对IL-8-251位点基因进行检测,分析组间等位基因和基因型频率的分布差异。结果 IL-8-251A/T位点的基因型和A、T等位基因频率在AgP组和健康对照组的分布差异无统计学意义（P〉0.05）。结论未发现IL-8-251A/T位点基因多态性与中国广东汉族人群侵袭性牙周炎的患病易感性之间存在相关性。     

不同程度牙周炎自然发展进程与IL-1RN基因多态性的关系

目的 了解慢性牙周炎病程的自然发展及其与IL-1RN（INTRON2）VNTR基因多态性的关系。方法对110例慢性牙周炎患者，其中轻度18例，中度34例，重度58例进行为期6个月的自然病程观察，分别在基线、6个月对全口余留牙牙周袋深度PD、临床附着丧失量AL进行检查，每个牙检查6个位点并检测其IL-1RN（INRON2）VNTR的基因多态性。结果110人平均牙周袋深度增加PD=0．23mm，平均附着丧失量增加AL=0．50mm。其中36例患者44个牙位出现了△AL≥2mm。6个月后PDAL的改变在IL-1RN（INTRON2）VNTR基因型1／1携带者与基因型1／2携带者间无明显差异（P〉0．05）。6个月后IL-1RN（INTRON2）VNTR基因型及等位基因频率在△AL≥2mm组和病情无明显改变组无统计学差异（P〉0．05），重度牙周炎组较轻中度牙周炎组更易出现快速进展（P〉0．05）。结论不同个体、不同程度其牙周病变的发展是不一样的，还不能认为IL-1RN（INTRON2）vNTR基因多态性会影响汉族人群慢性牙周炎的发展。     

肿瘤坏死因子A-308位点基因多态性与侵袭性牙周炎的关系

目的探讨肿瘤坏死因子（tumor necrosis factor，TNF）A-308位点基因多态性与侵袭性牙周炎的关系。方法选择64例侵袭性牙周炎（aggressive periodontitis，AgP）患者及78名健康对照者，提取其外周静脉血基因组DNA，采用多聚酶链反应-限制性内切酶片段长度多态性的方法检测TNF A-308位点的基因多态性。结果TNFA-308位点的GA基因型频率在两组间差异无统计学意义；但是在按性别和吸烟分层的条件下，携带基因型GA和等位基因A使男性不吸烟者患病的风险明显增加（OR值分别为22．2和16．1）。结论提示TNFA-308基因型GA和等位基因A可能与中国人群中男性个体的AgP易感性有关。     

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目的探讨亚甲基四氢叶酸还原酶（MTHFR）基因A1298C多态性与山西人群非综合征性唇腭裂（nonsyndromic cleft lip with or without cleft palate,NSCL／P）的相关性。方法选取2010年9月至2012年4月山西地区150例NSCL／P患者及其父母作为病例组（其中有135个完整的NSCL／P核心家系）,150例正常新生儿作为对照组,应用聚合酶链式反应一限制性片段长度多态性（PCR—RFLP）分析方法,对MTHFR基因A1298C位点的多态性进行检测,利用人群关联研究分析、病例组核心家系的传递不平衡检验（TDT）、单体型的相对危险度（HHRR）分析来研究该突变与NSCL／P的相关性。结果病例组和对照组人群基因型均未偏离Hardy-Weinberg遗传平衡定律（P〉0．05）;病例组与对照组进行子代间比较,AA、AC、CC3种基因型分布差异有统计学意义（P〈0．05）,A等位基因和c突变等位基因的分布差异均有统计学意义（P〈0．05）;NSCL／P核心家系TDT检验,差异有统计学意义（P〈0．05）,表明突变等位基因c存在着传递失衡的现象;HHRR检验结果表明,MTHFR基因A1298C位点多态性由双亲传递给患病子女的等位基因（C／A）频率差异有统计学意义（P〈0．05）。结论MTHFR基因A1298C位点多态性与山西人群NSCL／P的发生存在关联。     

白介素12A基因多态性与OLP的相关性研究

目的：研究华东地区汉族人群IL-12A基因多态性与口腔扁平苔藓（orallichenplanus,OLP）的相关性。方法：采用TaqMan荧光定量PCR法检测华东地区292例OLP患者及686例正常对照者的IL-12A基因的5个SNP位点（rs3024415,rs2243123,rs583911,rs568408和rs2243143）,分析IL-12A基因多态性与OLP的相关性。结果：①华东地区健康人群IL-12A基因3′-UTRrs568408位点AA、GA和GG基因型频率分别是0．7％、12．4％和86．8％,而OLP患者分别是1．1％、18．4％和80．5％,其中GA和AA基因型分布频率显著高于正常对照组@=O．0427）。②正常对照组IL-12A基因rs583911位点AA、GA和GG基因型频率分别是4．2％、38．6％和57．1％,而OLP患者分别是9．5％、36．5％和54％,其中AA基因型分布频率显著高于对照组（p=O．00805）。③糜烂型OLP组IL-12A—rs568408／A等位基因频率显著高于正常对照组,分别为11．6％和6．94％（OR=I．76,95％CI：1．133—2,732,P=0．011）。结论：华东地区汉族OLP人群IL-12A基因rs568408位点存在多态性变异,可能与OLP的疾病易感性和严重程度有关。     

IL-10-1082 G／A基因位点单核苷酸多态性与汉族人群重度慢性牙周炎发病风险的病例对照研究

目的探讨白细胞介素10（interleukin-10,IL-10）基因1082 C／A位点单核苷酸多态性与汉族人群重度慢性牙周炎（chronic periodontitis,CP）发病风险的关系。方法收集汉族重度慢性牙周炎患者146例及牙周健康对照者138人的颊黏膜拭子,以Chelex-100法提取基因组DNA,采用聚合酶链反应-限制性片段长度多态性（polymerase chain reaction restriction fragment length polymorphism,PCR-RFLP）分析法测定IL-10—1082 G／A基因型,并分析组间基因型和等位基因频率的差异。结果CP组和对照组AA基因型分布分别率为91．8％和89．1％,P=0．45;A等位基因频率分别为95．9％和94．6％,P=0．46,差异无统计学意义。结论IL-10—1082 G／A位点单核苷酸多态性与汉族人群重度慢性牙周炎发病风险无相关关系。     

IL-6-572基因多态性与侵袭性牙周炎易感性的相关性研究

目的 研究白细胞介素-6(interleukin-6,IL-6)-572位点基因多态性与侵袭性牙周炎易感性的关系.方法 采用病例对照试验设计,从广东汉族人群中选择83例侵袭性牙周炎(aggressive periodontitis,AgP)患者(AgP组)及79例牙周健康者(对照组),采用聚合酶链反应—限制性内切酶片段长度多态性分析方法对IL-6-572位点基因多态性进行检测,分析组间基因型频率及等位基因分布的差异.结果 IL-6基因启动子区-572位点G/C基因型在AgP组、对照组中的分布频率差异有统计学意义(x2=13.710,P=0.001).AgP组与对照组相比,G、C等位基因频率分布差异有统计学意义(x2=13.213,P<0.001),G等位基因相对于C等位基因:OR值为2.988,95%CI:1.634~5.465.结论 IL-6-572 G/C位点的基因多态性同中国广东汉族人群侵袭性牙周炎患病易感性可能存在相关关系,IL-6-572 G等位基因可能是广东汉族人群AgP遗传易感性的高风险因素.     

白细胞介素1受体拮抗剂基因型与糖尿患者群中牙周炎的关系

目的:探讨白细胞介素1受体拮抗剂(interleukin-1 receptor antagonist,IL-1ra)基因型与2型糖尿患者群中牙周炎(periodontitis of diabetes mellitus,DMP)易感性的关系。方法:收集2型糖尿病患者186例,分为糖尿病伴牙周炎组108名和糖尿病不伴牙周炎组78名,取血提取DNA,采用序列特异引物多聚酶链反应(sequence specific primers polymerase chain reaction,SSP-PCR)法测定IL-1RN内含子2/VNTR位点的基因型,比较各基因型检出率的差别。结果:IL-1RN内含子2/VNTR等位基因A2在2型糖尿病伴牙周炎组的检出率显著高于2型糖尿病不伴牙周炎组,分布差异有显著性(χ2=3.579,P=0.040)。结论:在2型糖尿病患者中,IL-1RN内含子2/VNTR等位基因A2可能与牙周炎的遗传易感性相关。     

全冠修复后重度龈炎患者基因型对IL-1表达的影响

目的：探讨全冠修复后重度龈炎患者基因型对白细胞介素1（interleukin-1,IL-1）表达的影响。方法：根据龈沟出血指数选取重度龈炎组50名,采用37名健康志愿者对照。分离外周血单个核细胞（PBMC）,1ug/ml脂多糖（LPS）刺激培养24h后测IL-1含量。结果：重度龈炎组的IL-1ra浓度和IL-1β/IL-1ra比值较健康对照组有显著性差异（P〈0.05）。与I/I基因型相比较,IL-1RN内含子2等位基因Ⅱ、IL-1RN内含子2和IL-1B＋3953复合等位基因Ⅱ携带组的IL-1ra浓度和IL-1β/IL-1ra比值差异有显著性（P〈0.01）。结论：IL-1RN内含子2等位基因Ⅱ通过影响IL-1ra的表达从而在全冠修复后重度龈炎中发挥重要作用。     

Association analysis between interleukin-1 family polymorphisms and generalized aggressive periodontitis in a Chinese population

BACKGROUND: It has been suggested that aggressive periodontitis (AgP) has a genetic basis, but this theory has not been confirmed. The intent of this investigation was to study whether specific interleukin (IL)-1 genotypes and/or alleles could be used to predict susceptibility to generalized AgP (GAgP) in Chinese. METHODS: The GAgP group consisted of 122 patients, and the control group included 95 healthy subjects. Single nucleotide polymorphisms at IL-1A (+4845) and IL-1B (-511, +3954) were analyzed by standard polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The polymorphism of a variable number tandem repeat (VNTR) in intron 2 of IL-1RN was detected by PCR amplification and fragment size analysis. RESULTS: There was no significant association of IL-1 polymorphisms with GAgP in the unstratified subjects. However, when cases were stratified by gender, the frequencies of A2+ genotype and allele 2 at IL-1A +4845 were significantly increased in male patients compared to male controls (genotype: odds ratio [OR] 5.58, 95% confidence interval [CI]: 1.09 to 28.68, P = 0.039; allele: OR 4.97, 95% CI: 1.01 to 24.50, P = 0.049; adjusted for age and smoking status). The frequency of IL-1B -511 A1/A2 heterozygote was significantly increased in male GAgP group compared to male controls (adjusted OR 3.16, 95% CI: 1.01 to 9.89, P = 0.048). In females, no significant differences were found between patients and controls in corresponding analyses at all polymorphic loci. A possible combined effect of IL-1B -511 polymorphism and smoking on the elevated risk to GAgP was observed. The OR of GAgP for combined A2+ genotype and smoking was 12.45 (95% CI: 1.43 to 108.06, P = 0.022), and for combined allele 2 and smoking was 18.25 (95% CI: 2.32 to 143.86, P = 0.006). CONCLUSIONS: The polymorphisms of IL-1A +4845 and IL-1B -511 may play an important role in determining GAgP susceptibility in Chinese males. Furthermore, a possible combined effect of the polymorphism of IL-1B -511 and smoking on GAgP susceptibility was suggested.     

Association of interleukin-1 polymorphisms with aggressive periodontitis

BACKGROUND: Genetic polymorphisms for interleukin (IL)-1alpha and -1beta have been proposed as potential genetic markers for periodontal diseases. Since the prevalence of these polymorphisms could be race-related, and no data exist about the frequency of these polymorphisms in the Chilean population, the aim of the current study was to investigate the association of the interleukin-1 gene polymorphisms with aggressive periodontitis (AgP). METHODS: Thirty-six patients with AgP, 75 healthy controls, and 75 subjects of unknown periodontal status (reference population) were genotyped for the IL-1A -889 and IL-1B +3954 loci, by polymerase chain reaction (PCR) amplification followed by restriction enzyme digestion and gel electrophoresis. Data were analyzed using the chi-square test, calculating odds ratios (OR) and confidence intervals (CI). RESULTS: The prevalence of the positive composite IL-1 genotype was higher in patients (25%) than in healthy controls (12%), but the difference was not significant (P= 0.14). The IL-1B +3954 homozygous for allele 1 frequency was higher in controls than in patients suggesting a protective factor for AgP. The heterozygous for allele 2 of the IL- 1B showed a significant association with AgP (OR = 2.86, 95% CI 1.06 to 7.71, P= 0.030). No association was observed in localized AgP and generalized AgP between the extent of disease and the presence of the composite positive genotype. Because the number of smokers was too small in patients and in controls, no other analyses were performed. CONCLUSION: The results of the present study support a positive association between AgP and the presence of the IL-1B +3954 allele 2 polymorphism.     

Cyclooxygenase-2 Gene-765 single nucleotide polymorphism as a protective factor against periodontitis in Taiwanese

Aim: Prostaglandin E₂ (PGE₂) is considered to be an important mediator of tissue destruction in periodontitis. The cyclooxygenase (COX) catalyses the production of PGs. COX‐2, which is induced in an inflammatory response, is responsible for PGs synthesis at sites of inflammation. A single nucleotide polymorphism of COX‐2^?765 has been shown to alter the expression of the COX‐2 gene. The purpose of the present study was to evaluate the association of the COX‐2^?765 polymorphism and susceptibility to periodontitis in Taiwanese. Material and Methods: Eighty‐five cases of aggressive periodontitis (AgP), 343 cases of chronic periodontitis (CP) and 153 cases of healthy controls (HC) were recruited for the study. Genotypes of COX‐2^?765 were determined by polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP). The distribution of genotypes among groups was compared by logistic regression analyses. The risk for periodontitis associated with genotypes was calculated as the odds ratio (OR). Results: The prevalence of the GC and CC genotypes was significantly lower in AgP (5%) and in CP (29%) compared with the HC (42%). The ORs for carriage of the ?765C allele (GC+CC versus GG) in AgP and CP were 0.068 (95% CI=0.020–0.173, p<0.0001) and 0.571 (95% CI=0.385–0.849, p=0.006), respectively. After adjustment for age, gender and smoking status, the OR was 0.071 (95% CI=0.017–0.219) and 0.552 (95% CI=0.367–0.829) for AgP and CP, respectively. Conclusions: The results of the study suggest that the ?765G to C polymorphism of the COX‐2 gene is associated with a decreased risk for periodontitis in Taiwanese, especially in AgP. However, the biological meaning needs further investigation.     

Assessment of single nucleotide polymorphism at IL-1A+4845 and IL-1B+3954 as genetic susceptibility test for chronic periodontitis in Maharashtrian ethnicity

BACKGROUND: The inflammatory response that is directed in large part by proinflammatory cytokine interleukin (IL)-1 is genetically determined, with some people having a more vigorous response than others to the same stimulus. The reason for this is speculated that the dysregulated production of IL-1 in some individuals overrides the feedback mechanisms that normally master the dose of inflammation to a level sufficient to fight microbial invasion without long-lasting damage to the tissues involved. The aims of the present study were to determine the distribution of IL-1 gene polymorphism (IL-1A+4845 and IL-1B+3954) and their association with periodontal disease severity and to determine the significance of detecting the composite genotype (IL-1A allele2+IL-1B allele2) versus detecting either of them alone. METHODS: A total of 120 subjects were included and divided into four groups of 30 subjects each, namely, healthy, mild, moderate, and severe periodontitis groups. After a complete clinical examination, DNA was isolated from 0.5 ml blood. Specific primers were used to detect the presence of IL-1 gene polymorphism with the help of polymerase chain reaction (PCR) and subsequent allele detection with restriction fragment length polymorphism (RFLP) and separation by gel electrophoresis. RESULTS: The distribution of the allele1 homozygous genotype was 3% in the severe periodontitis group, and the distribution for the allele2 genotype was 30%. A higly significant difference (Wilcoxon signed-rank test; P<0.001) was seen between subjects positive and negative for the composite genotype. CONCLUSIONS: Results of the present study reinforced the association of the IL-1 genotype as a risk factor for severe chronic periodontitis. Positivity for the composite genotype was found to be significantly associated with severe chronic periodontitis (odds ratio [OR]=12.42).     

NADPH oxidase (CYBA) and FcgammaR polymorphisms as risk factors for aggressive periodontitis: a case-control association study

INTRODUCTION: Neutrophils (PMN) in aggressive periodontitis (AgP) patients have been reported to be hyperactive especially with regards to superoxide production. Polymorphisms in genes influencing PMN function have been proposed as candidate risk factors for AgP. The aim of this study was to test the association of specific gene polymorphisms affecting PMN functions with AgP. MATERIALS AND METHODS: Two hundred and twenty-four patients with confirmed diagnosis of AgP and 231 subjects with healthy periodontium took part in the study. A blood sample was collected from subjects and genotypes for p22phox (CYBA) NADPH oxidase, FP, Fcalpha and Fcgamma receptors were analysed in a blind fashion. RESULTS: The C242T p22phox NADPH oxidase T allele was significantly associated with AgP in a multiple logistic regression model adjusting for confounders, and this was observed for all subjects [p = 0.002, odds ratio (OR) = 1.87, 95% confidence interval (CI) = 1.27-2.83] and Caucasians (p = 0.009, OR=2.07, 95% CI = 1.20-3.59). Concomitant presence of C242T p22phox NADPH oxidase T allele and FcgammaRIIIb NA1 homozygosity was associated with the generalized AgP phenotype in Caucasians (p = 0.001, OR = 30.35, 95% CI = 3.81-241.97). CONCLUSIONS: C242T p22phox NADPH oxidase and FcgammaR polymorphisms may predispose to AgP through a modulation of neutrophil superoxide production.     

Genetic polymorphism of interleukin-10 (-A592C) among oral cancer with squamous cell carcinoma

ObjectiveInterleukin-10 (IL-10) is a pleiotropic cytokine with either immunosuppressive or immunostimulative activities. It has been reported that in cancer, the promoter region polymorphism of IL-10 (-A592C) alters both the expression and serum levels of this cytokine. In the present study, we have addressed the question as to whether the single nucleotide polymorphisms (SNPs) at positions −592 A/C in the IL-10 gene promoter, could predispose an individual to oral squamous cell carcinoma (OSCC).DesignWe analyzed the genotype of the IL-10 (-A592C) gene, in 250 histopathologically confirmed OSCC patients and similar number of healthy volunteers taken as controls, in an Indian population by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Allele and genotype frequencies were analyzed by the Student's t-test and the chi-squared test, and strength of associations by the odds ratio (OR) with 95% confidence intervals.ResultsThe genotype and allele distribution of IL-10 (-A592C) gene polymorphism was significantly different between OSCC cases and controls (genotype AA vs AC: OR 2.87; 95 % CI 1.50–5.48; p = 0.0016 and AA vs CC: OR 4.08; 95 % CI 1.98–8.41; p = 0.0002). The −592 C alleles were found to be significantly different among OSCC cases and controls (OR: 1.44, 95% CI: 1.12–1.85, p < 0.0051).ConclusionsThe IL-10 gene promoter region (-592) A/C polymorphism is significantly associated with reduced risk of OSCC. The OSCC group had a significantly greater frequency of genotype AA as compared to control group.     

Low prevalence of a periodontitis-associated interleukin-1 composite genotype in individuals of Chinese heritage

BACKGROUND: Polymorphisms in the interleukin-1 (IL-1) gene cluster have been associated with an increased risk of developing certain diseases. A specific composite genotype of IL-1A and IL-1B polymorphisms, consisting of allele 2 of both IL-1A +4845 and IL-1B +3954 (formerly +3953) has been associated with an increased risk of severe adult periodontitis. Approximately 30% of the European population carry this genotype. The prevalence of the above IL-1A and IL-1B composite genotype in populations of different ethnic origins is unknown. Therefore, the primary aim of this study was to determine the prevalence of the IL-1 composite genotype in individuals of Chinese heritage, since epidemiologic studies indicate that periodontitis is widespread among ethnic Chinese. An additional aim was to evaluate if there was an association between the composite genotype and the severity of periodontal disease. METHODS: A convenience sample of 300 volunteers of Chinese heritage (ages 21 to 69 years) received a periodontal examination including full-mouth clinical attachment loss measurements, probing depths, plaque index scores, and bleeding on probing. Blood was collected from a fingerstick and placed on a blotting paper card. The blood samples were analyzed for IL-1A +4845 and IL-1B +3954 polymorphisms using polymerase chain reaction (PCR)-based methods. RESULTS: Only 7 of the 300 subjects (2.3%) carried the composite IL- 1 genotype consisting of allele 2 of both IL-1A +4845 and IL-1B +3954. Allele 2 of the IL-1A +4845 polymorphism was carried by 17.0% (51/300) of the subjects; of these, only 2 were homozygous. Allele 2 of the IL-1B +3954 polymorphism was much rarer with only 3.3% (10/300) of the study population carrying this marker. All of the people who carried the IL-1B polymorphism were heterozygous. Too few of the subjects were positive for the IL-1 composite genotype to establish any relationship with the susceptibility to periodontitis. CONCLUSIONS: It was concluded that the prevalences of both IL-1A and IL-1B polymorphisms are dramatically lower in Chinese than those reported for Europeans. Findings from this study bring into question the usefulness of the composite genotype of allele 2 of both IL-1A +4845 and IL-1B +3954 as a method for determining the susceptibility of Chinese patients to adult periodontitis.     

雌激素受体XbaI和PvuⅡ基因多态性与侵袭性牙周炎的相关研究

目的:探讨侵袭性牙周炎(aggressive periodontitis,AgP)易感性与雌激素受体XbaI和PvuⅡ基因多态性的关系.方法:收集48 例侵袭性牙周炎(AgP)患者和60 例牙周健康对照组的颊黏膜拭子,采用Chelex-100法提取DNA,应用聚合酶链式反应-限制性片段长度多态性技术检测雌激素受体XbaI和PvuⅡ的等位基因及基因型频率在各组之间分布的差异.结果:XbaI基因型分布在AgP组与对照组、AgP组女性与对照组女性、AgP组男性与对照组男性之间均有显著性差异(P<0.05).其等位基因频率在女性组间有统计学意义(P<0.05). PvuⅡ基因型分布在AgP组与对照组之间均无明显差异,其等位基因频率分布有明显差异(P<0.05). 多因素logistic回归分析显示男性患病的可能性小(OR=0.352);随年龄增大患病的可能性变小(OR=0.950);当其他条件一定时,xx、Xx基因型的人患病的可能性小(OR 值分别为0.678,0.224).结论:侵袭性牙周炎易感性与雌激素受体XbaI基因型分布有关,XX基因型最易患病,其次为xx,Xx基因型.     

Interleukin-4 gene polymorphisms in Japanese and Caucasian patients with aggressive periodontitis

OBJECTIVES: Recently, interleukin (IL) 4 gene polymorphisms have been analyzed in association with periodontitis. Genetic differences between Caucasian and Japanese patients with periodontitis have previously been detected. The aim of the present study was to analyze IL-4 genotypes in Caucasian and Japanese patients with aggressive periodontitis (AgP). MATERIAL AND METHODS: One hundred and twenty-four subjects were included in the study, 31 Japanese and 30 Caucasian patients with generalized AgP, plus 30 Japanese and 33 Caucasian healthy controls. IL-4 polymorphisms were determined by polymerase chain reaction. A logistic regression was used to investigate the possible association of the genotypes with the disease in both populations. Odds ratio (OR) estimates were analyzed for allele frequencies. RESULTS: No significant association of IL-4 polymorphisms with the risk of AgP was determined in either population. However, the allele frequencies showed different results between populations. The carriage of the polymorphism in intron 2 was higher in Caucasian patients compared with controls (OR: 2.0, 95% confidence interval: [1.0;4.2]. Furthermore, the frequency of the IL-4 promoter/intron 2 composite genotype (PP+/IP+) in patients and controls, respectively, was found to be approximately 25% and 60% higher in the Japanese population than in the Caucasian population. CONCLUSION: There was no evidence of an association of IL-4 genotypes and AgP in either population, although the frequencies of the IL-4 genotypes in the Japanese and the Caucasians were different.