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Millions of people are infected with one or more types of human papillomavirus (HPV). Many of the more than 100 HPV types are tropic for the genital organs and fall into two general classes: those causing cervical neoplasia and those causing condylomata (genital warts). In children unfortunate enough to acquire the condylomatous viral types from their mothers, the infection produces the commonest benign neoplasm of the larynx, recurrent respiratory papillomatosis (RRP). RRP causes voice disturbance, which is associated with very significant morbidity and degrades quality of life. Human voice is one of the most defining aspects of our species as it leads directly to our ability to engage in complex communications. Chronic voice disturbance prompts evaluation by an otolaryngologist, and uncontrolled disease may lead to death through airway occlusion. Despite the surgeon being able to diagnose and manage the papillomas, the lesions recur repeatedly since there is no known cure. Most patients must endure multiple surgeries. The disease may go into remission in some, but hoarseness often persists for life. We maintain that there is a genetic susceptibility to RRP, and are seeking which genes are involved. Ultimately, we expect that such understanding will enable rational therapy development.

Ongoing collaborations between the RRP Task Force, 27 medical institutions, the Center for Genomic Sciences in Pittsburgh and two patient-support groups has yielded the broadest-based RRP DNA repository ever assembled. The repository is being grown to the size needed for the performance of genome-wide genetic association studies that are sufficiently powered to identify susceptibility genes.

Susceptibility loci will be identified by comparing the patients to their parents as well as to controls and then performing Transmission Disequillibrium Testing and case-control genetic association analyses. Also a quantitative trait locus analysis will be performed in which genotype will be compared to the disease aggressiveness.

Initially, several candidate genes are being explored by genotyping scores of SNPs in each with the Sequenom MASSArray iPLEX. The next step is to conduct genome-wide typing at sufficiently high resolution to detect association by the transmission disequilibrium test; we shall use the Illumina platform with a 1million SNP chip.

It is our intention to sequence the genes that appear to be significantly in RRP patients based on the above studies.

Pittsburgh Post-Gazette (October 2012)

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