【摘要】：目的探討核黃素轉(zhuǎn)運(yùn)蛋白SLC52A3基因單核苷酸多態(tài)性(SNPs)與鼻咽癌易感性的關(guān)系。方法采用Haploview軟件從國際人類基因組單體型圖計(jì)劃(Hap Map)公布的北京漢族人群基因型數(shù)據(jù)庫中篩選出SLC52A3基因3個(gè)標(biāo)簽SNPs(rs13042395、rs3746803及rs3746804),收集147例鼻咽癌患者外周血標(biāo)本并采用直接測序法進(jìn)行基因分型,選取159例健康體檢者的外周血作對比,采用Hardy-Weinberg平衡分析3個(gè)SNPs位點(diǎn)的遺傳平衡情況,比較鼻咽癌患者與健康對照rs13042395、rs3746803及rs3746804基因型和等位基因的分布差異并計(jì)算比值比(OR)及其95%置信區(qū)間(CI)來評價(jià)以上SNPs與鼻咽癌易感性的關(guān)系,同時(shí)分析SLC52A3 SNPs與常見臨床病理參數(shù)的關(guān)系。結(jié)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。疾病組與對照組rs13042395基因型分布的差異無統(tǒng)計(jì)學(xué)意義(P0.05),但疾病組等位基因C的比例高于對照組(P0.05),其中以CC基因型為參照,TT及CT+TT基因型發(fā)生鼻咽癌的風(fēng)險(xiǎn)降低至0.522、0.575倍(P0.05),T相對于C等位基因發(fā)生鼻咽癌的風(fēng)險(xiǎn)降低至0.719倍(P0.05)。rs3746804分布上,疾病組TT基因型及等位基因T的比例均低于對照組,差異有統(tǒng)計(jì)學(xué)意義(P0.05),其中以CC基因型為參照,CT、TT及CT+TT基因型發(fā)生鼻咽癌的風(fēng)險(xiǎn)降低至0.501、0.400和0.466倍(P0.05);以C等位基因?yàn)閰⒄?T發(fā)生鼻咽癌的風(fēng)險(xiǎn)降低至0.588倍(P0.05)。rs3746803基因型及等位基因分布與鼻咽癌易感性無關(guān)。結(jié)論SLC52A3 rs13042395、rs3746804與鼻咽癌易感性及臨床分期有關(guān),其中攜帶等位基因T的鼻咽癌發(fā)生風(fēng)險(xiǎn)降低,在鼻咽癌早期篩查中有一定價(jià)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 鹵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.
【作者單位】： 青海紅十字醫(yī)院耳鼻喉科;北京協(xié)和醫(yī)院耳鼻喉科;
【基金】：西寧市科技攻關(guān)計(jì)劃項(xiàng)目(2015B01024)
【分類號(hào)】：R739.63

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