Investigation of INDEL variants in apoptosis: the relevance to gastric cancer.

4区医学 Q4 Medicine BMC Medical Genetics Pub Date : 2020-10-19 DOI:10.1186/s12881-020-01138-3

Giovanna Chaves Cavalcante, Milene Raiol de Moraes, Cristina Maria Duarte Valente, Caio Santos Silva, Antônio André Conde Modesto, Paula Baraúna de Assumpção, Paulo Pimentel de Assumpção, Sidney Santos, Ândrea Ribeiro-Dos-Santos

{"title":"Investigation of INDEL variants in apoptosis: the relevance to gastric cancer.","authors":"Giovanna Chaves Cavalcante, Milene Raiol de Moraes, Cristina Maria Duarte Valente, Caio Santos Silva, Antônio André Conde Modesto, Paula Baraúna de Assumpção, Paulo Pimentel de Assumpção, Sidney Santos, Ândrea Ribeiro-Dos-Santos","doi":"10.1186/s12881-020-01138-3","DOIUrl":null,"url":null,"abstract":"Background: Apoptosis is a type of cell death involved in different pathways inherent to the cell and the evasion from this mechanism has been related to cancer, although this process remains not very well comprehended. Gastric cancer (GC) is one of the most incident and aggressive types of cancer worldwide. In this study, we analyzed the distribution of INDEL variants in GC patients (Case) and individuals from the general population (Control) from the Amazon region, in which GC is remarkably frequent.Methods: A panel of nine INDEL markers in apoptosis-related genes (BCL2 rs11269260, CASP3 rs4647655, CASP8 rs3834129 and rs59308963, CASP9 rs4645982 and rs61079693, FADD rs4197, FAS rs10562972 and TP53 rs17880560) was developed and genotyped by multiplex PCR in both groups.Results: In our analyses, only marker rs4197 (FADD gene) was associated to GC development as follows: INS/DEL genotype of rs4197 increasing in about 2-fold the chances of developing this type of cancer (P = 0.046; OR = 1.940; 95%CI = 1.011-3.725).Conclusion: Our results suggest that rs4197 (FADD gene) might play a role in gastric carcinogenesis in the investigated population. More studies are needed to clarify this relation. Here, we highlight the importance of investigating INDEL variants in genes involved in apoptosis.","PeriodicalId":9015,"journal":{"name":"BMC Medical Genetics","volume":" ","pages":"207"},"PeriodicalIF":0.0000,"publicationDate":"2020-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7574166/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMC Medical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s12881-020-01138-3","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}

引用次数: 0

Abstract

Background: Apoptosis is a type of cell death involved in different pathways inherent to the cell and the evasion from this mechanism has been related to cancer, although this process remains not very well comprehended. Gastric cancer (GC) is one of the most incident and aggressive types of cancer worldwide. In this study, we analyzed the distribution of INDEL variants in GC patients (Case) and individuals from the general population (Control) from the Amazon region, in which GC is remarkably frequent.

Methods: A panel of nine INDEL markers in apoptosis-related genes (BCL2 rs11269260, CASP3 rs4647655, CASP8 rs3834129 and rs59308963, CASP9 rs4645982 and rs61079693, FADD rs4197, FAS rs10562972 and TP53 rs17880560) was developed and genotyped by multiplex PCR in both groups.

Results: In our analyses, only marker rs4197 (FADD gene) was associated to GC development as follows: INS/DEL genotype of rs4197 increasing in about 2-fold the chances of developing this type of cancer (P = 0.046; OR = 1.940; 95%CI = 1.011-3.725).

Conclusion: Our results suggest that rs4197 (FADD gene) might play a role in gastric carcinogenesis in the investigated population. More studies are needed to clarify this relation. Here, we highlight the importance of investigating INDEL variants in genes involved in apoptosis.

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

凋亡中 INDEL 变异的研究：与胃癌的关系

背景：细胞凋亡是细胞死亡的一种类型，涉及细胞固有的不同途径，逃避这一机制与癌症有关，尽管对这一过程的理解仍不十分透彻。胃癌（GC）是全球发病率最高、侵袭性最强的癌症类型之一。在这项研究中，我们分析了亚马逊地区 GC 患者（病例）和普通人群（对照）中 INDEL 变异的分布情况，在亚马逊地区，GC 的发病率非常高：方法：研究人员开发了一个由 9 个凋亡相关基因 INDEL 标记（BCL2 rs11269260、CASP3 rs4647655、CASP8 rs3834129 和 rs59308963、CASP9 rs4645982 和 rs61079693、FADD rs4197、FAS rs10562972 和 TP53 rs17880560）组成的面板，并通过多重 PCR 在两组人群中进行了基因分型：结果：在我们的分析中，只有标记 rs4197（FADD 基因）与 GC 发病相关，具体如下：rs4197的INS/DEL基因型使罹患这种癌症的几率增加约2倍（P = 0.046; OR = 1.940; 95%CI = 1.011-3.725）：我们的研究结果表明，在调查人群中，rs4197（FADD 基因）可能在胃癌的发生中起到了一定的作用。需要更多的研究来阐明这种关系。在此，我们强调了调查参与细胞凋亡的基因中 INDEL 变异的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文去求助

来源期刊

BMC Medical Genetics 医学-遗传学

自引率

0.00%

发文量

审稿时长

12 months

期刊介绍： BMC Medical Genetics is an open access journal publishing original peer-reviewed research articles in the effects of genetic variation in individuals, families and among populations in relation to human health and disease. Note: BMC Medical Genetics is now closed. This journal has merged with BMC Medical Genomics, a broad-scope, open access community journal for all medical genetics and genomics research.