Journal Facts

Journal
BoneKEy Knowledge Environment
ISSN
1940-8692
Volume
13
Year
2016

Article Facts

Title
Varley et al. Genetics of stress fractures: P2X7R gene implicated as risk factor
DOI
10.1038/bonekey.2016.47
Author
Online Date
05/11/2016

Article Links

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Varley et al. Genetics of stress fractures: P2X7R gene implicated as risk factor


DOI:10.1038/bonekey.2016.47

Stress fractures can arise due to repeated pressure and fatigue over time and are common in military recruits and elite athletes. Varley et al. studied the possible genetic basis of stress fracture injuries in these two populations, focusing on the P2X7R gene, which codes for the P2X7 receptor, a key bone remodeling regulator.

Participants in the study included a cohort of military conscripts from the Israeli Defense Forces (IDF) (n=210) and a group of elite Caucasian athletes from the USA and UK (N=510). All had been diagnosed with a stress fracture injury confirmed by medical imaging.

A fluorescence-based competitive allele-specific PCR assay was used to genotype all subjects, searching for functional single nucleotide polymorphisms (SNPs) within the P2X7R gene. In the first military conscript cohort, a variant allele of SNP rs3751143 (Glu496Ala; loss of function) was associated with an increased likelihood of a stress fracture, while a variant allele of rs1718119 (Ala348Thr; gain of function) was associated with a reduction of stress fracture risk (P<0.05); both associations were replicated in the cohort of elite athletes (P<0.05).

Editor’s comment: Variations in purinergic receptor genes have been previously associated with low bone mineral density (BMD) and accelerated bone loss in postmenopausal women. This study adds to our understanding of how genetic predisposition impacts on the development of stress fracture injury in younger subjects.

Creative Commons License This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 United States License.