Genome-wide Association Study Reveals Two Genetic Variants Associated with Plantar Fasciitis or Fibromatosis 

Stuart K. Kim, Andrew L. Avins, John P. Kleimeyer, Michael Fredericson, John P. A. Ioannidis, Jason L. Dragoo, Marwa A. Ahmed 

Abstract

Background. Plantar fasciitis is a common cause of foot pain and plantar fibromatosis is a rare fibrous hyperproliferation. Athletes involved in running and jumping sports are especially prone to plantar fasciitis. Identifying genetic loci associated with planar fascial disorders could shed light on their etiology.

Aim. To identify DNA polymorphisms associated with plantar fasciitis or fibromatosis.

Methods. A genome-wide association screen was performed using publically available data from the Research Program in Genes, Environment and Health including 21,624 cases of plantar fasciitis or fibromatosis and 80,879 controls.

Results. One indel (chr5:118704153:D) and one SNP (rs62051384) showed an association with plantar fasciitis or fibromatosis at genome-wide significance (p < 5 x10-8) with small effects (odds ratios = 0.93 and 1.07 per allele, respectively). 
Conclusions. chr5:118704153:D and rs62051384 show a statistically significant association with plantar fasciitis or fibromatosis. It will be important to replicate this finding in future studies.  

Summary Statistics for Plantar Fascial Disorders. 

Summary statistics for 9,322,588 SNPs for plantar fascial disorders from Kim et al., 2016 (zipped text file, 120 Mb). 

CHR: chromosom; BP: position in HG18; SNP: rsid; A1: effect allele; P: p-value from fixed effects meta_analysis OR: allelic odds ratio.