缓激肽β2受体基因启动子区-58T/C多态性与哈萨克族人原发性高血压的相关性分析

目的探讨在新疆哈萨克民族中缓激肽β2受体基因启动子区-58位基因多态性与原发性高血压的关系。方法运用聚合酶链反应-单链构象多态性分析(PCR-SSCP)、克隆测序等方法,对354例收缩压≥140mmHg和(或)舒张压≥90mmHg的原发性高血压哈萨克族患者和216例年龄、性别、族别相匹配的血压<140/90mmHg的正常血压者,分别进行缓激肽β2受体基因启动子区-58位基因多态性检测,观察不同基因型和等位基因频率在高血压患者组和正常血压对照组中的分布。结果新疆哈萨克族人缓激肽β2受体基因启动子区-58位存在TT、CC、TC3种基因型,各基因型在原发性高血压患者组和正常血压对照组的分布频率分别为0·29、0·29,0·15、0·22,0·56、0·49。T、C两种等位基因的分布频率分别为0·53、0·47和0·57、0·43。3种基因型和等位基因频率分布在两组间无统计学差异。结论新疆哈萨克族人缓激肽β2受体基因启动子区-58位基因多态性可能与哈萨克族人原发性高血压不相关。     

HER-2基因Ile655Val多态性与结直肠癌易感性分析

目的 探讨HER-2原癌基因Ile655Val多态性与结直肠癌易感性的相关性,及其在自然人群中的分布频率.方法 应用病例对照研究,对浙江省嘉善县292例结直肠癌患者和842名健康对照者采用聚合酶链反应-限制性片段长度多态性方法检测HER-2基因密码子655基因型.结果 结直肠癌组HER-2基因Ile/Val+Val/Val基因型频率(25.34%)和Val等位基因频率(13.36%)均显著高于对照组(18.41%和9.74%)(P<0.05).与Ile/lie基因型携带者相比,Ile/Val+Val/Val基因型携带者患结直肠癌的风险增加(OR=1.54,95%CI:1.11～2.14).HER-2基因多态性与吸烟、饮酒的交互作用OR值分别为1.43(95%CI:0.88～2.30)和1.29(95%CI:0.73～2.29).结论 HER-2基因Ile655Val多态性与结直肠癌易感性相关,但是这种多态性与吸烟、饮酒在结直肠癌发生中不存在交互作用.     

HER-2基因Ile655Val多态性与结直肠癌易感性分析

目的 探讨HER-2原癌基因Ile655Val多态性与结直肠癌易感性的相关性,及其在自然人群中的分布频率.方法 应用病例对照研究,对浙江省嘉善县292例结直肠癌患者和842名健康对照者采用聚合酶链反应-限制性片段长度多态性方法检测HER-2基因密码子655基因型.结果 结直肠癌组HER-2基因Ile/Val+Val/Val基因型频率(25.34%)和Val等位基因频率(13.36%)均显著高于对照组(18.41%和9.74%)(P<0.05).与Ile/lie基因型携带者相比,Ile/Val+Val/Val基因型携带者患结直肠癌的风险增加(OR=1.54,95%CI:1.11～2.14).HER-2基因多态性与吸烟、饮酒的交互作用OR值分别为1.43(95%CI:0.88～2.30)和1.29(95%CI:0.73～2.29).结论 HER-2基因Ile655Val多态性与结直肠癌易感性相关,但是这种多态性与吸烟、饮酒在结直肠癌发生中不存在交互作用.     

HER-2基因Ile655Val多态性与结直肠癌易感性分析

目的 探讨HER-2原癌基因Ile655Val多态性与结直肠癌易感性的相关性,及其在自然人群中的分布频率.方法 应用病例对照研究,对浙江省嘉善县292例结直肠癌患者和842名健康对照者采用聚合酶链反应-限制性片段长度多态性方法检测HER-2基因密码子655基因型.结果 结直肠癌组HER-2基因Ile/Val+Val/Val基因型频率(25.34%)和Val等位基因频率(13.36%)均显著高于对照组(18.41%和9.74%)(P<0.05).与Ile/lie基因型携带者相比,Ile/Val+Val/Val基因型携带者患结直肠癌的风险增加(OR=1.54,95%CI:1.11～2.14).HER-2基因多态性与吸烟、饮酒的交互作用OR值分别为1.43(95%CI:0.88～2.30)和1.29(95%CI:0.73～2.29).结论 HER-2基因Ile655Val多态性与结直肠癌易感性相关,但是这种多态性与吸烟、饮酒在结直肠癌发生中不存在交互作用.     

HER-2基因Ile655Val多态性与结直肠癌易感性分析

目的 探讨HER-2原癌基因Ile655Val多态性与结直肠癌易感性的相关性,及其在自然人群中的分布频率.方法 应用病例对照研究,对浙江省嘉善县292例结直肠癌患者和842名健康对照者采用聚合酶链反应-限制性片段长度多态性方法检测HER-2基因密码子655基因型.结果 结直肠癌组HER-2基因Ile/Val+Val/Val基因型频率(25.34%)和Val等位基因频率(13.36%)均显著高于对照组(18.41%和9.74%)(P<0.05).与Ile/lie基因型携带者相比,Ile/Val+Val/Val基因型携带者患结直肠癌的风险增加(OR=1.54,95%CI:1.11～2.14).HER-2基因多态性与吸烟、饮酒的交互作用OR值分别为1.43(95%CI:0.88～2.30)和1.29(95%CI:0.73～2.29).结论 HER-2基因Ile655Val多态性与结直肠癌易感性相关,但是这种多态性与吸烟、饮酒在结直肠癌发生中不存在交互作用.     

HER-2基因Ile655Val多态性与结直肠癌易感性分析

目的 探讨HER-2原癌基因Ile655Val多态性与结直肠癌易感性的相关性,及其在自然人群中的分布频率.方法 应用病例对照研究,对浙江省嘉善县292例结直肠癌患者和842名健康对照者采用聚合酶链反应-限制性片段长度多态性方法检测HER-2基因密码子655基因型.结果 结直肠癌组HER-2基因Ile/Val+Val/Val基因型频率(25.34%)和Val等位基因频率(13.36%)均显著高于对照组(18.41%和9.74%)(P<0.05).与Ile/lie基因型携带者相比,Ile/Val+Val/Val基因型携带者患结直肠癌的风险增加(OR=1.54,95%CI:1.11～2.14).HER-2基因多态性与吸烟、饮酒的交互作用OR值分别为1.43(95%CI:0.88～2.30)和1.29(95%CI:0.73～2.29).结论 HER-2基因Ile655Val多态性与结直肠癌易感性相关,但是这种多态性与吸烟、饮酒在结直肠癌发生中不存在交互作用.     

HER-2基因Ile655Val多态性与结直肠癌易感性分析

目的 探讨HER-2原癌基因Ile655Val多态性与结直肠癌易感性的相关性,及其在自然人群中的分布频率.方法 应用病例对照研究,对浙江省嘉善县292例结直肠癌患者和842名健康对照者采用聚合酶链反应-限制性片段长度多态性方法检测HER-2基因密码子655基因型.结果 结直肠癌组HER-2基因Ile/Val+Val/Val基因型频率(25.34%)和Val等位基因频率(13.36%)均显著高于对照组(18.41%和9.74%)(P<0.05).与Ile/lie基因型携带者相比,Ile/Val+Val/Val基因型携带者患结直肠癌的风险增加(OR=1.54,95%CI:1.11～2.14).HER-2基因多态性与吸烟、饮酒的交互作用OR值分别为1.43(95%CI:0.88～2.30)和1.29(95%CI:0.73～2.29).结论 HER-2基因Ile655Val多态性与结直肠癌易感性相关,但是这种多态性与吸烟、饮酒在结直肠癌发生中不存在交互作用.     

HER-2基因Ile655Val多态性与结直肠癌易感性分析

目的 探讨HER-2原癌基因Ile655Val多态性与结直肠癌易感性的相关性,及其在自然人群中的分布频率.方法 应用病例对照研究,对浙江省嘉善县292例结直肠癌患者和842名健康对照者采用聚合酶链反应-限制性片段长度多态性方法检测HER-2基因密码子655基因型.结果 结直肠癌组HER-2基因Ile/Val+Val/Val基因型频率(25.34%)和Val等位基因频率(13.36%)均显著高于对照组(18.41%和9.74%)(P<0.05).与Ile/lie基因型携带者相比,Ile/Val+Val/Val基因型携带者患结直肠癌的风险增加(OR=1.54,95%CI:1.11～2.14).HER-2基因多态性与吸烟、饮酒的交互作用OR值分别为1.43(95%CI:0.88～2.30)和1.29(95%CI:0.73～2.29).结论 HER-2基因Ile655Val多态性与结直肠癌易感性相关,但是这种多态性与吸烟、饮酒在结直肠癌发生中不存在交互作用.     

HER-2基因Ile655Val多态性与结直肠癌易感性分析

目的 探讨HER-2原癌基因Ile655Val多态性与结直肠癌易感性的相关性,及其在自然人群中的分布频率.方法 应用病例对照研究,对浙江省嘉善县292例结直肠癌患者和842名健康对照者采用聚合酶链反应-限制性片段长度多态性方法检测HER-2基因密码子655基因型.结果 结直肠癌组HER-2基因Ile/Val+Val/Val基因型频率(25.34%)和Val等位基因频率(13.36%)均显著高于对照组(18.41%和9.74%)(P<0.05).与Ile/lie基因型携带者相比,Ile/Val+Val/Val基因型携带者患结直肠癌的风险增加(OR=1.54,95%CI:1.11～2.14).HER-2基因多态性与吸烟、饮酒的交互作用OR值分别为1.43(95%CI:0.88～2.30)和1.29(95%CI:0.73～2.29).结论 HER-2基因Ile655Val多态性与结直肠癌易感性相关,但是这种多态性与吸烟、饮酒在结直肠癌发生中不存在交互作用.     

HER-2基因Ile655Val多态性与结直肠癌易感性分析

目的 探讨HER-2原癌基因Ile655Val多态性与结直肠癌易感性的相关性,及其在自然人群中的分布频率.方法 应用病例对照研究,对浙江省嘉善县292例结直肠癌患者和842名健康对照者采用聚合酶链反应-限制性片段长度多态性方法检测HER-2基因密码子655基因型.结果 结直肠癌组HER-2基因Ile/Val+Val/Val基因型频率(25.34%)和Val等位基因频率(13.36%)均显著高于对照组(18.41%和9.74%)(P<0.05).与Ile/lie基因型携带者相比,Ile/Val+Val/Val基因型携带者患结直肠癌的风险增加(OR=1.54,95%CI:1.11～2.14).HER-2基因多态性与吸烟、饮酒的交互作用OR值分别为1.43(95%CI:0.88～2.30)和1.29(95%CI:0.73～2.29).结论 HER-2基因Ile655Val多态性与结直肠癌易感性相关,但是这种多态性与吸烟、饮酒在结直肠癌发生中不存在交互作用.     

The bradykinin beta 2 receptor (BDKRB2) and endothelial nitric oxide synthase 3 (NOS3) genes and endurance performance during Ironman Triathlons

We have previously shown that the insertion allele of the angiotensin-converting enzyme (ACE) gene was over-represented in the fastest South-African-born finishers of the South African Ironman Triathlons. As ACE is a component of the skeletal muscle kallikrein-kinin system (KKS), the aim of this study is to determine if there are any further associations between polymorphisms within the BDKRB2 and NOS3 genes, which encode for the KKS components, bradykinin beta(2) receptor and nitric oxide synthase, respectively, and ultra-endurance performance during the Ironman Triathlons. Four-hundred and forty-three male Caucasian triathletes who completed the 2000 and/or 2001 South African Ironman Triathlons and 203 healthy Caucasian male control subjects were genotyped for the functional -9/+9 polymorphism within exon 1 of the BDKRB2 gene and the G894T NOS3 gene polymorphisms. The BDKRB2 -9/-9 genotype occurred at a significantly higher frequency when the triathlete group (27.0%) was compared with the control group (19.3%, P=0.035). When divided into tertiles, there was also a significant linear trend for the NOS3 GG genotype distribution among the fastest (35.0%), middle (40.4%) and slowest (46.9%) finishers (P=0.039). The overall finishing times of the triathletes with an NOS3 GG genotype together with a BDKRB2 +9 allele were significantly slower than those with other genotype combinations (P=0.001). The NOS3/BDKRB2 genotype (beta=-0.150, B=-31.48, P=0.002), together with body mass index and age, accounted for 14.6% of the variance in the overall race time for the triathlon. In conclusion, both the NOS3 and BDKRB2 genes are associated with the actual performance during the Ironman Triathlons.     

Stromal cell-derived factor-1 (SDF-1/CXCL12) gene polymorphisms in pulmonary tuberculosis patients of south India

CXCL12 gene polymorphisms influence CXCL12 levels and may be associated with the outcome of host-pathogen interaction. Hence, the present study was carried out to find out whether CXCL12 gene polymorphisms are associated with susceptibility or resistance to pulmonary tuberculosis (PTB). Intron and 3' untranslated region (UTR) polymorphisms of CXCL12 gene were investigated among 184 patients with PTB and 187 healthy controls (HC) using polymerase chain reaction-based methods. The results revealed an increased frequency of G/A genotype of In2 +5887 [P = 0.034; odds ratio (OR) 1.66; 95% confidence intervals 1.04-2.66] and a decreased frequency of G/A genotype of 3'UTR +12197 polymorphisms (P = 0.051; OR 0.64; 95% CI 0.4-1.00) among patients than HCs. When the study subjects were categorized based on sex, significantly increased frequencies of G/A genotype (P = 0.013 P(c) = 0.039; OR 2.41) of In2 +5887 and G/G genotype (P = 0.005, P(c) = 0.015; OR 2.48) of 3'UTR +12197 polymorphisms were observed among female patients with PTB as compared to female HC. A significantly decreased frequency of the haplotype G-C-A-T (P = 0.006, P(c) = 0.030; OR 0.48) was noticed among female patients with PTB as compared to female HC. The study suggests that G/A genotype of In2 +5887 and G/G genotype of 3'UTR +12197 polymorphisms may be associated with susceptibility to PTB among females, and the haplotype G-C-A-T of CXCL12 gene may be associated with protection in females.     

14 bp deletion polymorphism in the HLA-G gene is a risk factor for idiopathic dilated cardiomyopathy in a Chinese Han population

Human leukocyte antigen (HLA) has been reported to be associated with the pathogenesis of autoimmune-associated idiopathic dilated cardiomyopathy (IDC). However, the HLA-G in this context is limited. In the current study, a total of 117 IDC patients and age and sex matched 401 unrelated healthy controls in a Chinese Han population were HLA-G genotyped for the 14 bp insertion and deletion polymorphism. IDC patients showed markedly increased frequencies of -14 bp/-14 bp genotype [Pc = 0.00049, odds ratio (OR) = 2.17] and -14 bp alleles (Pc = 4.1 x 10(-5), OR = 1.97) when compared with healthy controls. Whereas the frequencies of +14 bp/+14 bp genotype (Pc = 0.0036, OR = 0.35) and +14 bp alleles (Pc = 4.1 x 10(-5), OR = 0.51) were significantly lower in IDC. These data, for the first time, indicated that 14 bp insertion/deletion polymorphism in HLA-G gene could be a genetic risk factor for the susceptibility to IDC.     

Association of single nucleotide polymorphisms in ADAM12 gene with susceptibility to knee osteoarthritis: a case-control study in a Chinese Han population

Objective: Genetic factors play an important role in osteoarthritis (OA) etiology and ADAM12 gene polymorphisms may be involved. This study tried to examine the single-nucleotide polymorphisms (SNPs) of ADAM12 for their association with knee OA susceptibility in a Chinese Han population. Methods: The rs3740199, rs1871054, rs1278279, and rs1044122 SNPs in ADAM12 gene were genotyped in 152 subjects who were diagnosed as knee osteoarthritis and in 179 healthy controls. Results: Rs1871054 was found to be significantly associated with increased risk of OA (C vs. T, OR 1.802 (1.308 to 2.483), P < 0.0001) after adjustment of age, gender, and BMI. For other SNPs, no statistically significant associations with OA were found. Conclusion: In conclusion, our data demonstrated the ADAM12 rs1871054 variant was found to be significantly associated with increased OA susceptibility in a Chinese Han population.     

白细胞介素16基因多态性与广西地区汉族女性膝关节原发性骨性关节炎的易感关联

背景：目前的基因研究表明,膝关节原发性骨性关节炎的发病风险与白细胞介素类基因有关联性。 目的：观察白细胞介素16基因多态性与女性膝关节原发性骨性关节炎的相关性。 方法：收集71例Kellgren/Lawrence评分大于2分的膝关节原发性骨性关节炎患者及85例健康对照的广西汉族女性的静脉血标本,采用聚合酶链反应-限制性片段长度多态性技术对两组白细胞介素16的 rs11556218,rs4072111,rs4778889多态位点进行基因分型,计算两组基因型和等位基因的分布差异,分析白细胞介素16基因多态性与膝骨性关节炎的易感关联。 结果与结论：两组3个SNP位点的各基因频数在两组中的分布符合Hardy-Weinberg平衡,等位基因比较差异无显著性意义。单个位点显性模式非条件Logistic回归显示,在rs11556218的3种基因型的比较中,T/G基因型较T/T基因型的膝原发性骨性关节炎的发病风险显著减低(OR=0.41,95%CI：0.21~0.83,P=0.02);在rs4072111中,C/T基因型比C/C基因型的发病风险显著增加(OR=2.36,95%CI：1.19~4.68,P=0.03)。结果证实,广西地区汉族女性人群白细胞介素16的遗传变异与膝关节原发性骨性关节炎的易感性关联。     

Dipsogenic genes associated with weight changes during Ironman Triathlons

Thirst is regulated by a complex interaction of signalling pathways within the central nervous system, including components of the renin-angiotensin and kalikrein kinin systems, as well as the serotonergic pathways. The aim of this study was to determine whether there were any associations between polymorphisms within the ACE, BDKRB2, NOS3 and/or 5-HTT genes with weight changes during the 2000 and 2001 226 km South African Ironman Triathlons. Pre- and post-race serum [Na(+)] and body weights, as well as genotype data, were collected from 428 (61.1%) Caucasian male triathletes who were divided into three groups according to their relative weight loss during the triathlon (0-3, 3-5 and >5%). There was a significant linear trend for the distribution of both the BDKRB2 +9/+9 genotype and the 5-HTT SS genotype between the three weight loss groups, with the >5% group having the highest percentage of athletes with the +9/+9 genotype (chi(2)=5.3, P=0.021) and the highest percentage of athletes with the SS genotype (chi(2)=5.8, P=0.016). Likewise, the >5% group had the highest percentage of athletes with the combined SS 5-HTT and/or +9/+9 BDKRB2 genotypes (chi(2)=7.4, P=0.007). In conclusion, the functional SS genotype of the serotonin transporter-linked polymorphic region (5-HTTLPR) within the 5-HTT gene and the functional +9/+9 genotype of the BDKBR2 gene were associated with larger weight losses during the Ironman Triathlons. These findings suggest the involvement of the serotonergic pathways in the control of thirst and drinking behaviour and provide further evidence for the dipsogenic effect of circulating bradykinin.     

NRAMP1 gene polymorphisms in patients with rheumatoid arthritis in Koreans

Natural resistance-associated macrophage protein 1 (Nramp1) is a genetic locus associated with innate resistance or susceptibility of murine hosts to infection with intracellular pathogens such as Salmonella, Leishmania and Mycobacterium. The human homologue of the Nramp1 gene, designated NRAMP1, has been investigated as a candidate gene for genetic susceptibility to autoimmune diseases as well as infections. This study tries to determine whether NRAMP1 polymorphisms are associated with susceptibility to rheumatoid arthritis in Koreans. The nine NRAMP1 polymorphisms (1 microsatellite, 1 variation in 3' UTR, 5 silent substitution, 2 amino acid substitution) were typed by PCR-RFLP in 74 patients with rheumatoid arthritis (RA) and 53 healthy controls in Koreans. The distribution of allele and genotype frequencies were compared between patients and controls. Three NRAMP1 polymorphisms (823C/T, D543N and 1729+55del4) were significantly associated with RA. In addition, there were significant differences in the genotype frequencies for 823C/T, D543N and 1729+ 55del4 polymorphisms between RA patients and controls. Genotypes of A/A homozygote for D543N and TGTG deletion homozygote for 1729+55del4 were only detected in the patient group. These data indicate that genetic polymorphisms of NRAMP1 might be associated with the susceptibility to rheumatoid arthritis in Koreans.     

基质金属蛋白酶-2和-9基因多态性与结直肠癌的相关性

目的探讨基质金属蛋白酶（matrix metalloproteinase，MMP）-2和-9基因启动子区多态性与结直肠癌的关系。方法应用变性高效液相色谱法和限制性片段长度多态性分析方法分别检测126例结直肠癌患者和126名正常对照者的MMP-2—1306C/T和MMP-9—1562C／T多态性，分析其基因型与结直肠癌发病风险及临床病理参数的相关性。结果MMP-2—1306C／C基因型频率在结直肠癌组中显著高于对照组（P〈0．05），与CT＋TT基因型携带者比较，CC基因型携带者患结直肠癌的风险约增加2倍（OR：1．959；95％CI：1．055～3．637）。而且在结直肠癌中，MMP-2—1306C／T多态性与肿瘤的浸润深度之间差异有统计学意义（P〈0．05），CC基因型的肿瘤更容易浸润到外膜。MMP-9—1562C／T多态性的基因型及等位基因频率在结直肠癌组和对照组间的分布差异无统计学意义（P〉0．05）。结论MMP-2—1306C／T多态性可能与中国人群结直肠癌的遗传易感性相关，且CC基因型的肿瘤更易浸润到外膜。     

Association of repeat polymorphisms in the estrogen receptors alpha, beta, and androgen receptor genes with knee osteoarthritis

Genetic factors have been shown to play an important role in the etiology of osteoarthritis (OA). To elucidate the possible role of genetic variation in the estrogen receptors alpha and beta (ER-alpha, ER-beta) and androgen receptor (AR) genes with knee OA, the -1174(TA)(n), c.1092+3607(CA)(n), and c.172(CAG)(n) repeat polymorphisms of ER-alpha, ER-beta, and AR genes were studied. A case-control cohort of 158 patients with idiopathic knee OA and 193 controls were used. A significant difference was observed in the frequency distribution of -1174(TA)(9-25) and c.1092+3607(CA)(13-27) repeat polymorphisms of the ER-alpha and ER-beta genes between OA patients and controls (p<0.005 and p<0.0001, respectively). A significantly increased odds ratio (OR) for knee OA was observed in individuals having long alleles (LL) genotype for ER-alpha gene and LL and one short and one long allele (SL) genotypes for ER-beta gene compared to individuals with the short alleles (SS) genotype (95% CI 1.03-3.5; p=0.04 and CI 2.4-8.3 and 2.5-7.5; p < 0.001, respectively). When ORs were adjusted for various risk factors, it was observed that women with LL genotypes for ER-beta and AR genes showed significantly increased risk for OA development (p=0.002 and 0.001). An association between c.1092+3607(CA)(13-27) and c.172(CAG)(8-34) repeat polymorphisms of the ER-beta and AR genes and knee OA was found in individuals of Greek descent.     

Association of three single nucleotide polymorphisms of the E-cadherin gene with susceptibility to epithelial ovarian carcinoma]

OBJECTIVE: To investigate the association of three single nucleotide polymorphisms (SNPs), i.e. -160C/A, -347G/GA and 3'UTR+ 54C/T, in the promoter region of E-cadherin gene (CDH1) with the risk of epithelial ovarian carcinoma. METHODS: The SNPs of CDH1 gene were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 207 epithelial ovarian carcinoma patients and 256 unrelated healthy women; immunohistochemistry was used to measure the level of CDH1 in different genotypes of 3'UTR+ 54C/T locus. RESULTS: There were no significant difference in the frequencies between patients and control women in the two loci (-160C/A, -347G/GA) of CDH1 gene (P> 0.05). However, there was significant difference in the frequency of CDH1 3'-UTR+ 54C/T genotypes (CC, CT and TT) between patients and controls (P< 0.05). The frequencies of the CC genotype and the C allele in patients (65.2%, 89.1%) were significantly higher than that in controls (52.7%ì64.5%) (P< 0.01). The CC genotype significantly increased the risk to epithelial ovarian carcinoma, with adjusted odds ratio of 1.85 (95%CI= 1.27-2.69). In the ovarian tissues of patients, the expression of CDH1 from CC genotype was significantly lower than that with the other genotypes (CT+ TT) (P< 0.05). The -160C/A and -347G/GA polymorphisms were in linkage disequilibrium (D'= 0.999582) by analyzing with 2LD software. The -160A/-347GA haplotype was only observed in patients (5.1%), the -160C/-347GA haplotype decreased susceptibility to epithelial ovarian carcinoma, with adjusted odds ratio of 0.66 (95%CI= 0.45-0.96). CONCLUSION: CDH1 -160C/A and -347G/GA polymorphisms were not associated with the risk of epithelial ovarian carcinoma. However, the haplotype may have impact on the risk of epithelial ovarian carcinoma. The CC genotype of 3'-UTR + 54CT may be a potential risk factor for the epithelial ovarian carcinoma.