探討關於攝護腺癌、乳癌、肺癌及大腸癌的單一核苷酸多型性標記在不同種族中的作用

Abstract

癌症是全球共通的疾病，其中攝護腺癌、乳癌、大腸癌、肺癌分別在亞洲族群及歐洲族群癌症調查中，同樣有極高的發生率。近年全基因組關連性研究盛行，已有許多研究證實單一核苷酸多型性與疾病之間的關係，但相同的基因型在不同族群研究中，不一定會有類似的結果，本研究希望以探討不同單一核苷酸多型性在亞洲族群與歐洲族群中所對應的基因與其所扮演的生化角色。 本研究由國際期刊文獻中收集大腸癌、乳癌、肺癌、攝護腺癌與全基因體關聯性研究之相關數據，得到實驗組與對照組的單一核苷酸多型性之基因型樣本數據後，計算出不同族群間的族群分化指數（FST），藉此判斷此單一核苷酸多型性是否在不同族群中產生遺傳分化。之後再將單一核苷酸多型性有關連的基因對應到生物路徑中，觀察他們在生物代謝路徑中所造成的影響。 由族群分化指數觀察到，在不同族群中不同的單一核苷酸多型性頻率，通常是造成單一核苷酸多型性在不同族群研究中，有不同疾病顯著性的原因。此外，將單一核苷酸多型性所對應的基因對應到體內代謝路徑中可以得知雖然不同族群中與疾病相關的基因不同，但是他們會共同參與誘發癌症的代謝路徑。

Cancer is a worldwide disease. Prostate cancer, breast cancer, colorectal cancer and lung cancer have high incidence rates in European and Asian studies. Recently, genome-wide association studies (GWAS) is widely used and revealed the association between SNPs and diseases. From these researches, we discover that sometimes SNPs in susceptible gene locis did not show similar relationship to diseases in different populations. In this article, we are interested in studies of cancer specific SNPs from Asians and Europeans. We also want to know their functions in pathways. In this study, we manually retrieved case-control genotype data from international research articles of prostate cancer, breast cancer, lung cancer and colorectal cancer. Then we used FST to measure the differentiation between populations and mapped susceptible genes near SNP locis to pathways to know their function by using bioinformatic tools. The differences between allele frequencies in different populations are the main factors that cause the different significance of SNPs in Asians and Europeans. Furthermore, the same susceptible genes in Asians and Europeans might show different effects in pathways in cancer.