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Published on: April 22, 2019
A Pilot Genome-Wide Association Study of Malignant Transformation of Oral Verrucous Hyperplasia
Yusuf Maulana1, Ming-Heng Wu2,3,4,5,6, Wei-Fan Chiang7,8
1Graduate Institute of Biomedical Informatics, College of Medical Science and Technology, Taipei Medical University, Taipei, Taiwan.
Objective:
We conducted a genome-wide association study (GWAS) to identify single-nucleotide polymorphisms (SNPs) associated with malignant transformation in oral verrucous hyperplasia (OVH) patients.
Methods:
The genomic DNA used for SNP genotyping was extracted from the buffy coat. The primary trait of the GWAS was cancer-free survival, defined as beginning at the initial OVH diagnosis and ending at the first diagnosis of oral cancer, loss to follow-up, or the end of follow-up, whichever occurred first. For each SNP, the distributions of cancer-free survival were compared between minor allele carriers and non-carriers using the log-rank test, and an SNP with a significant difference was considered to be associated with OVH malignant transformation.
Results:
The GWAS identified seven genome-wide significantly associated SNPs (p < 10-7). Among them, four are located in long non-coding RNA genes (STX18-AS1, TARID, LOC124903183, and GNAO1-DT), two are located in protein-coding genes (LIMCH1 and ZBTB44), and the remaining one is located in a non-coding RNA gene (LOC105375416). For each SNP, the minor allele was associated with a higher risk of malignant transformation.
Conclusions:
This pilot GWAS suggests genetic contributions to OVH malignant transformation. These findings warrant validation in larger samples and replication across diverse populations in future studies.
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