硒蛋白P基因多态性与乳头状甲状腺癌发病风险的关联性分析

目的：探讨内蒙古地区乳头状甲状腺癌（PTC）患者与健康对照者硒蛋白P（Sepp1）基因rs7579位点单核苷酸多态性（SNPs）的分布情况及与环境非遗传因素的相互作用，阐明其与PTC发病风险的关联性。方法：选择内蒙古地区汉族PTC患者138例和健康对照者140人，采用等位基因特异性聚合酶链式反应（AS-PCR）技术检测Sepp1基因rs7579位点基因型和等位基因频数，并根据不同临床特征（年龄、性别、肿瘤大小和有无淋巴转移）进行分层分析，同时结合非遗传相关因素，如吸烟、饮酒、体质量指数（BMI）、碘盐摄入和精神状态等进行多因素Logistic回归分析，综合探讨Sepp1基因rs7579位点SNPs与PTC发病风险的关系。结果：高BMI、碘盐摄入、精神状态差和工作压力大增加PTC发病风险（均P<0.1）；Sepp1基因rs7579位点GG、GA、AA基因型和G、A等位基因频数分布2组比较差异无统计学意义（χ²=0.622，P>0.05；χ²=0.673，P>0.05）。分层分析，年龄≥ 50岁组中PTC患者GG、GA和AA基因型频数分布与健康对照者比较差异有统计学意义（χ²=7.717，P=0.028），PTC患者AA基因型频数分布明显低于对照者（P<0.05），携带A等位基因的AA/GA型个体患PTC的风险低于GG型个体（OR=0.481，95%CI：0.267~0.866）。结论：BMI、碘盐摄入、精神状态和工作压力是PTC发病主要影响因素，A等位基因可能是PTC保护性因素之一。

Analysis on association between selenoprotein P polymorphism and risk of papillary thyriod carcinoma

Objective: To investigate the distribution of single nucleotide polymorphism (SNPs)of selenoprotein P(Sepp1)rs7579 site in the patients with papillary thyriod carcinoma(PTC) and the healthy controls and the interaction with non-genetic factors in the Inner Mongolia region,and to clarify the correlation of Sepp1 and the risk of PTC. Methods: The genotypic and allelic frequencies of Sepp1 from 138 patients with PTC and 140 healthy controls in the Inner Mongolia region were determined by allele-specific polymerase chain reaction(AS-PCR).Stratification analysis was conducted according to the different clinical characteristics(age,gender,tumor size and presence or absence of lymph node metastasis),and the association between the Sepp1 gene polymorphism with PTC incidence risk was analyzed in combination with non-genetic factors such as smoking,drinking,body mass index(BMI),iodized salt intake and mental state etc by multiple Logistic regression analysis.Pearson correlation analysis was used to analyze the correlations between the expression levels of c-fos and PV proteins in hipocampus tissue of the offspring rats and the learning ability indexes,the NO content,and the NOS activity in hipocampus tissue. Results: High BMI,iodized salt intake,bad mental state and big working pressure increased the risk of PTC.The differences in the frequencies of GG,GA,AA genotypes and G,A alleles of Sepp1 (rs7579) between the PTC patients and the healthy controls were not significant(χ²=0.622,P>0.05;χ²=0.673,P>0.05).But the stratification analysis results showed that there were significant differences in the genotypic frequencies of GG,GA and AA between the PTC patients and the controls in ≥ 50 years old group(χ²=7.717,P=0.028),and the frequency of AA genotype of the PTC patients was significantly lower than that of the controls(P<0.05).The relative risk of PTC incidence in the subjects with allele A (AA or GA) was lower than those with genotype GG (OR=0.481,95%CI:0.267-0.866). Conclusion: BMI, iodized salt intake,mental state and working pressure are the main influencing factors of PTC;allele A may be the protective factor of PTC.