A Multicenter Allelic Analysis of Diffuse Idiopathic Skeletal Hyperostosis: Nature Versus Nurture?

ABSTRACT:

Background

Diffuse idiopathic skeletal hyperostosis (DISH) is an incompletely defined disease process with no known unifying pathophysiological mechanism.

Objective

To our knowledge, no genetic studies have been performed in a North American population. To summarize genetic findings from previous studies and to comprehensively test for these associations in a novel and diverse, multi-institutional population.

Methods

Cross-sectional, single nucleotide polymorphism (SNP) analysis was performed in 55 of 121 enrolled patients with DISH. Baseline demographic data were available on 100 patients. Based on allele selection from previous studies and related disease conditions, sequencing was performed on COL11A2, COL6A6, fibroblast growth factor 2 gene, LEMD3, TGFB1, and TLR1

SUBMITTER: Zervos TM 

PROVIDER: S-EPMC10586868 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature