Ahn Myung-Ju, Park Shin-Young, Kim Won Kyu, Cho Ju Hwan, Chang Brian Junho, Kim Dong Jo, Ahn Jin Seok, Park Keunchil, Han Joong-Soo
Division of Hematology-Oncology, Department of Internal Medicine, Department of Medicine, Samsung Medical Center, Sungkyunkwan University, School of Medicine, Seoul 135-710, Korea;
Int J Biomed Sci. 2012 Jun;8(2):121-8.
Phospholipase D (PLD) has an important role in various biological functions including vesicular transport, endocytosis, exocytosis, cell migration, and mitosis. These cellular biological processes are deregulated in the development of various human tumors. In order to explore the relationship between the PLD1 gene and risk of non-small cell lung cancer (NSCLC), single nucleotide polymorphisms (SNP) in the PLD1 exon region were surveyed in 211 NSCLC patients and 205 normal controls. In this study, we identified six SNPs at exon 23 in the PLD1 gene. Among the six SNPs, the most notable was a heterozygous A to C transition at nucleotide 2698 (A2698C, p<0.001). In addition, the genotype frequencies of A2744C (AC+CC) and A2756C (AC+CC) were associated with gender (female, A2744C and A2756C: p=0.071) in NSCLC patients. Interestingly, although the SNP A2698C did not cause change in amino acid, correlation between odd ratio of NSCLC patients and the SNP A2698C was observed to be statistically significant.
磷脂酶D（PLD）在包括囊泡运输、胞吞作用、胞吐作用、细胞迁移和有丝分裂在内的多种生物学功能中发挥着重要作用。这些细胞生物学过程在各种人类肿瘤的发生发展过程中失调。为了探究PLD1基因与非小细胞肺癌（NSCLC）风险之间的关系，我们对211例NSCLC患者和205例正常对照者的PLD1外显子区域的单核苷酸多态性（SNP）进行了检测。在本研究中，我们在PLD1基因的第23外显子中鉴定出6个SNP。在这6个SNP中，最显著的是核苷酸2698处的杂合A到C转换（A2698C，p<0.001）。此外，在NSCLC患者中，A2744C（AC+CC）和A2756C（AC+CC）的基因型频率与性别相关（女性，A2744C和A2756C：p=0.071）。有趣的是，尽管SNP A2698C未导致氨基酸改变，但NSCLC患者的比值比与SNP A2698C之间的相关性具有统计学意义。
