Genetics of morphological hip abnormalities and their implications for osteoarthritis: a scoping review

Area of Science:

• Orthopedics and Genetics
• Biomechanical Engineering

Background:

• Morphological hip abnormalities (MHAs) significantly impact hip prognosis, leading to early osteoarthritis and functional impairment.
• Developmental dysplasia of the hip (DDH) and femoroacetabular impingement (FAI) are key MHAs resulting from abnormal femoral head coverage.
• These conditions alter hip biomechanics, causing damage, pain, and accelerated degeneration.

Purpose of the Study:

• To explore the genetic and biomechanical underpinnings of morphological hip abnormalities (MHAs).
• To understand the mechanisms linking hip morphology to osteoarthritis.
• To identify potential pathways for personalized interventions and early detection.

Main Methods:

• Review of genetic research linking specific genes (e.g., COL1A1, MMP13, IL-6, ADAMTS4, FRZB, TGF-β1) to MHAs and osteoarthritis.
• Integration of imaging techniques, including statistical shape modeling, to analyze 3D hip morphology.
• Biomechanical analysis to understand the impact of MHAs on joint function.

Main Results:

• Identified numerous genes implicated in osteoarthritis, DDH, and FAI, highlighting a genetic component in hip morphology.
• Established that altered hip biomechanics due to MHAs contribute to structural damage and degeneration.
• Highlighted the need for multimodal approaches combining genetics, imaging, and biomechanics.

Conclusions:

• Early detection of MHAs is crucial for preventing early-onset osteoarthritis.
• Multimodal strategies integrating genetics, advanced imaging, and biomechanics are essential for understanding disease subtypes and developing personalized treatments.
• Further research into genetic factors of other hip conditions like Slipped Capital Femoral Epiphysis and Legg-Calvé-Perthes disease is warranted.