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Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures. | LitMetric

AI Article Synopsis

  • Several small genetic studies on atypical femur fractures (AFF) have been conducted, but results lacked replication; this study uses whole exome sequencing to analyze genetic factors in a larger sample of 139 European AFF cases and 196 controls.
  • The analysis identified suggestive associations with genes like PLOD2, XRN2, and SORD, although not statistically significant; replication studies showed varying consistency across populations.
  • Findings suggest that genetic factors influencing AFFs differ among individuals and highlight the need for larger studies to further understand the genetic basis of AFF.*

Article Abstract

Several small genetic association studies have been conducted for atypical femur fracture (AFF) without replication of results. We assessed previously implicated and novel genes associated with AFFs in a larger set of unrelated AFF cases using whole exome sequencing (WES). We performed gene-based association analysis on 139 European AFF cases and 196 controls matched for bisphosphonate use. We tested all rare, protein-altering variants using both candidate gene and hypothesis-free approaches. In the latter, genes suggestively associated with AFFs (uncorrected p-values <.01) were investigated in a Swedish whole-genome sequencing replication study and assessed in 46 non-European cases. In the candidate gene analysis, PLOD2 showed a suggestive signal. The hypothesis-free approach revealed 10 tentative associations, with XRN2, SORD, and PLOD2 being the most likely candidates for AFF. XRN2 and PLOD2 showed consistent direction of effect estimates in the replication analysis, albeit not statistically significant. Three SNPs associated with SORD expression according to the GTEx portal were in linkage disequilibrium (R2 ≥ 0.2) with an SNP previously reported in a genome-wide association study of AFF. The prevalence of carriers of variants for both PLOD2 and SORD was higher in Asian versus European cases. While we did not identify genes enriched for damaging variants, we found suggestive evidence of a role for XRN2, PLOD2, and SORD, which requires further investigation. Our findings indicate that genetic factors responsible for AFFs are not widely shared among AFF cases. The study provides a stepping-stone for future larger genetic studies of AFF.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11371903PMC
http://dx.doi.org/10.1093/jbmr/zjae122DOI Listing

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