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一组用于评估甲状腺癌风险的新型单核苷酸多态性:巴西混合人群中的一项试点研究。

A new panel of SNPs to assess thyroid carcinoma risk: a pilot study in a Brazilian admixture population.

作者信息

Dos Santos Isabelle C C, Genre Julieta, Marques Diego, da Silva Ananília M G, Dos Santos Jéssica C, de Araújo Jéssica N G, Duarte Victor H R, Carracedo Angel, Torres-Español Maria, Bastos Gisele, de Oliveira Ramos Carlos C, Luchessi André D, Silbiger Vivian N

机构信息

Department of Clinical Analysis and Toxicology of Federal University of Rio Grande do Norte, Rua General Gustavo Cordeiro de Farias s/n, CEP 59012-570, Natal, Rio Grande do Norte, Brazil.

Health Sciences Posgraduation Programme, Federal University of Rio Grande do Norte, Natal, Brazil.

出版信息

BMC Med Genet. 2017 Nov 25;18(1):140. doi: 10.1186/s12881-017-0502-8.

Abstract

BACKGROUND

Thyroid cancer is a common malignant disease of the endocrine system with increasing incidence rates over the last few decades. In this study, we sought to analyze the possible association of 45 single nucleotide polymorphisms (SNPs) with thyroid cancer in a population from Rio Grande do Norte, Brazil.

METHODS

Based on histological analysis by a pathologist, 80 normal thyroid specimens of tissue adjacent to thyroid tumors were obtained from the biobank at the Laboratory of Pathology of Liga Norte Riograndense Contra o Câncer, Natal, RN. Patient samples were then genotyped using the MassARRAY platform (Sequenon, Inc) followed by statistical analysis employing the SNPassoc package in R program. The genotypic frequencies of all 45 SNPs obtained from the International HapMap Project database and based on data from the ancestral populations of European and African origin were used to compose the control study group.

RESULTS

In our study, the following 9 SNPs showed significant differences in their frequency when comparing the study and control groups: rs3744962, rs258107, rs1461855, rs4075022, rs9943744, rs4075570, rs2356508, rs17485896, and rs2651339. Furthermore, the SNPs rs374492 C/T and rs258107 C/T were associated with a relative risk for thyroid carcinoma of 3.78 (p = 6.27 × 10e) and 2.91 (p = 8.27 × 10e), respectively, after Bonferroni's correction for multiple comparisons.

CONCLUSIONS

These nine polymorphisms could be potential biomarkers of predisposition to thyroid carcinoma in the population from Rio Grande do Norte. However, complementary studies including a control group with samples obtained from healthy subjects in Rio Grande do Norte state, should be conducted to confirm these results.

摘要

背景

甲状腺癌是内分泌系统常见的恶性疾病,在过去几十年中发病率不断上升。在本研究中,我们试图分析45个单核苷酸多态性(SNP)与巴西北里奥格兰德州人群甲状腺癌之间可能存在的关联。

方法

根据病理学家的组织学分析,从纳塔尔市北里奥格兰德抗癌联盟病理学实验室的生物样本库中获取80份甲状腺肿瘤旁正常甲状腺组织标本。然后使用MassARRAY平台(Sequenon公司)对患者样本进行基因分型,随后在R程序中使用SNPassoc软件包进行统计分析。从国际人类基因组单体型图计划数据库获得的、基于欧洲和非洲起源的祖先群体数据的所有45个SNP的基因型频率,被用于组成对照研究组。

结果

在我们的研究中,以下9个SNP在比较研究组和对照组时显示出频率上的显著差异:rs3744962、rs258107、rs1461855 rs4075022、rs9943744、rs4075570、rs2356508、rs17485896和rs2651339。此外,在进行多重比较的Bonferroni校正后,SNP rs374492 C/T和rs258107 C/T与甲状腺癌的相对风险分别为3.78(p = 6.27×10e)和2.91(p = 8.27×10e)。

结论

这9种多态性可能是北里奥格兰德州人群甲状腺癌易感性的潜在生物标志物。然而,应进行补充研究,包括从北里奥格兰德州健康受试者获取样本组成对照组,以证实这些结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a9ed/5702224/84a257f2c74f/12881_2017_502_Fig1_HTML.jpg

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