Genome-wide association scan of Dupuytren's disease

Dupuytren's disease (DD) has a strong genetic component that is suggested by population studies and family clustering. Genetic studies have yet to identify the gene(s) involved in DD. The purpose of this study was to identify regions of the entire genome (chromosomes 1-23) associated with the disease by performing a genome-wide association scan on DD patients and controls.

We isolated genomic DNA from saliva collected from 40 unrelated DD patients and 40 unaffected controls. We conducted the genotyping using CytoSNP-Infinium HD Ultra genotyping assay on the Illumina platform. Using both log regression and mapping by admixture linkage disequilibrium analysis methods, we analyzed the single nucleotide polymorphism genotyping data.

Single nucleotide polymorphism analysis revealed a significant association in regions for chromosomes 1, 3 through 6, 11, 16, 17, and 23. Mapping by admixture linkage disequilibrium analysis showed ancestry-associated regions in chromosomes 2, 6, 8, 11, 16, and 20, which may harbor DD susceptibility genes. Both analysis methods revealed loci association in chromosomes 6, 11, and 16.

Our data suggest that chromosomes 6, 11, and 16 may contain the genes for DD and that multiple genes may be involved in DD. Future genetic studies on DD should focus on these areas of the genome.