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. 2012 Jun;8(2):121-8.

A Single Nucleotide Polymorphism in the Phospholipase D1 Gene is Associated with Risk of Non-Small Cell Lung Cancer

Myung-Ju Ahn  1 , Shin-Young Park, Won Kyu Kim, Ju Hwan Cho, Brian Junho Chang, Dong Jo Kim, Jin Seok Ahn, Keunchil Park, Joong-Soo Han
Affiliations

A Single Nucleotide Polymorphism in the Phospholipase D1 Gene is Associated with Risk of Non-Small Cell Lung Cancer

Myung-Ju Ahn et al. Int J Biomed Sci. 2012 Jun.

Abstract

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.

Keywords: DGGE; NSCLC; biomarker; lung cancer; phospholipase D; single nucleotide polymorphism.

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Figures

Figure 1
Figure 1
Locations of the six observed SNPs in PLD1 cDNA. (A) Distribution of single nucleotide polymorphism in the PLD1 gene. Substituted nucleotides are indicated by an arrow; (B) Top: DGGE pattern of A2698C showing a different allele (lanes 2 and 3). Bottom: DNA sequencing electropherograms of wild type (AA) and different alleles (AC and CC) of A2698C identified in PLD1 SNPs in this study. Polymorphic sites are indicated by asterisks (*).
Figure 2
Figure 2
PLD1 immunohistochemistry in human non-small cell lung cancers and normal lung tissues. (A) Immunoreactivity for PLD1 in normal alveolar lung tissues. The acinar epithelia and intra-alveolar connective tissue exhibit a negative reaction and positive staining, respectively; (B) Immunoreactivity for PLD1 in non-small cell lung cancer tissues (NSCLC). NSCLC tissues exhibit a strong positive reaction (top: ×10, bottom: ×100).
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