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. 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. 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). 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.

中文翻译：

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细胞凋亡中 INDEL 变异的研究：与胃癌的相关性


细胞凋亡是一种涉及细胞固有的不同途径的细胞死亡类型，这种机制的逃避与癌症有关，尽管这个过程仍然没有得到很好的理解。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 INDEL 变异在 GC 患者（病例）和来自亚马逊地区普通人群（对照）的个体中的分布，该地区 GC 非常频繁。凋亡相关基因中的九个 INDEL 标记（BCL2 rs11269260、CASP3 rs4647655、CASP8 rs3834129 和 rs59308963、CASP9 rs4645982 和 rs61079693、FADD rs4197、FAS rs10562972 和 TP53 rs17880 560）通过多重 PCR 在两组中进行开发和基因分型。在我们的分析中，只有标记物 rs4197（FADD 基因）与 GC 发展相关，如下所示：rs4197 的 INS/DEL 基因型使患此类癌症的几率增加约 2 倍（P = 0.046；OR = 1.940；95%） CI = 1.011–3.725）。我们的结果表明 rs4197（FADD 基因）可能在研究人群的胃癌发生中发挥作用。需要更多的研究来阐明这种关系。在这里，我们强调研究细胞凋亡相关基因中 INDEL 变异的重要性。