SLC52A3基因多态性与鼻咽癌易感性的关系

发布时间：2018-08-25 14:45

【摘要】：目的探讨核黄素转运蛋白SLC52A3基因单核苷酸多态性(SNPs)与鼻咽癌易感性的关系。方法采用Haploview软件从国际人类基因组单体型图计划(Hap Map)公布的北京汉族人群基因型数据库中筛选出SLC52A3基因3个标签SNPs(rs13042395、rs3746803及rs3746804),收集147例鼻咽癌患者外周血标本并采用直接测序法进行基因分型,选取159例健康体检者的外周血作对比,采用Hardy-Weinberg平衡分析3个SNPs位点的遗传平衡情况,比较鼻咽癌患者与健康对照rs13042395、rs3746803及rs3746804基因型和等位基因的分布差异并计算比值比(OR)及其95%置信区间(CI)来评价以上SNPs与鼻咽癌易感性的关系,同时分析SLC52A3 SNPs与常见临床病理参数的关系。结果 147例鼻咽癌患者rs13042395、rs3746803及rs3746804基因型和等位基因的分布符合Hardy-Weinberg平衡。疾病组与对照组rs13042395基因型分布的差异无统计学意义(P0.05),但疾病组等位基因C的比例高于对照组(P0.05),其中以CC基因型为参照,TT及CT+TT基因型发生鼻咽癌的风险降低至0.522、0.575倍(P0.05),T相对于C等位基因发生鼻咽癌的风险降低至0.719倍(P0.05)。rs3746804分布上,疾病组TT基因型及等位基因T的比例均低于对照组,差异有统计学意义(P0.05),其中以CC基因型为参照,CT、TT及CT+TT基因型发生鼻咽癌的风险降低至0.501、0.400和0.466倍(P0.05);以C等位基因为参照,T发生鼻咽癌的风险降低至0.588倍(P0.05)。rs3746803基因型及等位基因分布与鼻咽癌易感性无关。结论SLC52A3 rs13042395、rs3746804与鼻咽癌易感性及临床分期有关,其中携带等位基因T的鼻咽癌发生风险降低,在鼻咽癌早期筛查中有一定价值。
[Abstract]:Objective to investigate the relationship between single nucleotide polymorphisms (SNPs) of riboflavin transporter (SLC52A3) gene and susceptibility to nasopharyngeal carcinoma (NPC). Methods Haploview software was used to screen SLC52A3 gene 3 tags SNPs (rs13042395,rs3746803 and rs3746804) from (Hap Map) published by the International Human Genome haplotype Project (Hap Map). Peripheral blood samples from 147 patients with nasopharyngeal carcinoma were collected. The genotyping was carried out by sequencing. The genetic balance of three SNPs loci was analyzed by Hardy-Weinberg equilibrium in the peripheral blood of 159 healthy controls. To compare the distribution of rs13042395,rs3746803 and rs3746804 genotypes and alleles between patients with nasopharyngeal carcinoma and healthy controls, and calculate the ratio of (OR) and 95% confidence interval (CI) to evaluate the relationship between SNPs and susceptibility to NPC. At the same time, the relationship between SLC52A3 SNPs and common clinicopathological parameters was analyzed. Results the distribution of rs13042395,rs3746803 and rs3746804 genotypes and alleles in 147 patients with nasopharyngeal carcinoma was in accordance with Hardy-Weinberg equilibrium. There was no significant difference in the distribution of rs13042395 genotype between the disease group and the control group (P0.05), but the proportion of allele C in the disease group was higher than that in the control group (P0.05). The risk of nasopharyngeal carcinoma (NPC) with CC genotype as the reference group was reduced to 0.522 卤0.575. The risk of nasopharyngeal carcinoma (NPC) was reduced to 0.719 times (P0.05). Rs3746804, compared with C allele. The proportion of TT genotype and allele T in the disease group was lower than that in the control group. There was significant difference (P0.05), in which the risk of nasopharyngeal carcinoma (NPC) with CC genotype as reference group and CT TT genotype decreased to 0.501 0.400 and 0.466 times (P0.05), the risk of NPC with C allele as reference was 0.588 times (P0.05), and the risk of NPC with allele C was 0.588 times (P0.05). Allelic distribution was not associated with susceptibility to nasopharyngeal carcinoma. Conclusion SLC52A3 rs13042395,rs3746804 is associated with the susceptibility and clinical stage of nasopharyngeal carcinoma, in which allelic T allele is associated with lower risk of nasopharyngeal carcinoma, which is valuable in early screening of nasopharyngeal carcinoma.
【作者单位】：青海红十字医院耳鼻喉科;北京协和医院耳鼻喉科;
【基金】：西宁市科技攻关计划项目(2015B01024)
【分类号】：R739.63

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