Objective: Owing to the recent advances in genetic analysis technology, its application in drug development is expected to increase, although there are concerns regarding the leakage of personal information.  This study aimed to assess the attitudes of community citizens toward genetic analysis studies associated with clinical trials planned by the pharmaceutical industry.
Methods: A questionnaire survey was conducted after an educational seminar on drug development at a university campus festival.  Answers were obtained from 47 citizens (16 males and 31 females, ages ranging from teens to fifties).
Results: Attitudes toward providing genome samples were assessed using a 100-mm visual analogue scale, and the data revealed significant differences in the conditions of sample use (A, limited to specific genes during the trial, 89±14 mm; B, limited to genes related to the test drug or target disease, 81±23 mm; C, unlimited, 71±33 mm, p<0.01).  Twenty-seven citizens (57%) consistently expressed acceptance toward all three conditions.  The remaining 38% (n=18) expressed denial as the analysis targets widened.  Regarding the acceptable period for sample storage, 17 citizens (36%) allowed “indefinite storage” but 14 citizens (30%) requested “immediate disposal after analysis.”  A feedback on the accidental findings of abnormalities was requested by 43 citizens (91%).
Conclusion: The results demonstrated a wide variety of attitudes toward providing samples.  On the other hand, most citizens requested a feedback on the findings of abnormalities for disease-related genes.  These results suggest that it is necessary to improve the study protocol to reflect these fears and expectations.

Human β-defensin (hBD) 2 is an epithelial antimicrobial peptide. We studied single-nucleotide polymorphisms in the gene of hBD-2 in a Japanese population, and estimated the effect of a polymorphism in the promoter/enhancer region on the transcriptional activity. By sequencing the hBD-2 gene of 50 unrelated individuals, we detected one SNP in exon 2 and nine SNPs in the promoter/enhancer region. The SNP in the coding region at the +1765 position is synonymous [CCC (Pre)→CCT (Pre)]. One SNP in the promoter region (-1029) is located at the consensus sequence for NF-IL6 binding. By luciferase reporter assay and electrophoretic mobility shift assay, the wild-type (G) of -1029 showed significantly lower transcriptional activity than did the variant-type (A). The SNP at position -1029 may influence the hBD-2 expression and cause genetic variations in susceptibility to infectious diseases.

We report the in vitro establishment of a highly stable green fluorescent protein (GFP) -expressing transfectant of a highly-invasive human tongue squamous cell carcinoma (HTSCC) cell line, SAS-H1. The fluorescent cells permitted the visualization of tumor growth, local invasion, micrometastasis and cervical lymph node metastasis after submucosal injection into the tongues of nude mice. SAS-H1 cells were transfected with the pEGFP-N1 expression vector containing the GFP and neomycin resistance genes. Stable SAS-H1 clones expressing high levels of GFP were selected stepwise in vitro in levels of geneticin (G418) of up to 3,500 μg/ml. Subsequent early stages of local invasion and micrometastasis were visualized by GFP fluorescence in a primary tumor of the tongue. Furthermore, lymph node metastasis was confirmed for all of the orthotopic transplants in mice. However, no distant metastases, including those of lung and liver, were observed. Thus, this model should be useful for studying the metastatic process and for evaluating anti-metastasis agents in pre-clinical trials.

Human β-defensin (hBD) 2 is an epithelial antimicrobial peptide. We studied single-nucleotide polymorphisms in the gene of hBD-2 in a Japanese population, and estimated the effect of a polymorphism in the promoter/enhancer region on the transcriptional activity. By sequencing the hBD-2 gene of 50 unrelated individuals, we detected one SNP in exon 2 and nine SNPs in the promoter/enhancer region. The SNP in the coding region at the +1765 position is synonymous [CCC (Pre)→CCT (Pre)]. One SNP in the promoter region (-1029) is located at the consensus sequence for NF-IL6 binding. By luciferase reporter assay and electrophoretic mobility shift assay, the wild-type (G) of -1029 showed significantly lower transcriptional activity than did the variant-type (A). The SNP at position -1029 may influence the hBD-2 expression and cause genetic variations in susceptibility to infectious diseases.