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COL11A1 is associated with developmental dysplasia of the hip and secondary osteoarthritis in the HUNT study
Kaya Kvarme Jacobsen1, Sigrid Børte2,3,4, Lene Bjerke Laborie5,6
1Department of Orthopedic Surgery, District General Hospital of Førde, Førde, Norway.
Insights
Genetic analysis reveals a significant association between the COL11A1 gene and developmental dysplasia of the hip (DDH). This finding advances understanding of DDH etiology and may improve diagnosis and long-term outcomes for this common infant condition.
Area of Science:
- Genetics
- Orthopedics
- Epidemiology
Background:
- Developmental dysplasia of the hip (DDH) affects 2-3% of infants, increasing osteoarthritis risk and leading to THAs in young adults.
- DDH significantly impacts quality of life and necessitates improved diagnostic and management strategies.
Purpose of the Study:
- To investigate the genetic underpinnings of DDH.
- To identify genetic factors contributing to DDH for enhanced diagnosis and long-term patient outcomes.
Main Methods:
- Utilized the Trøndelag Health Study (HUNT) database for a large-scale, longitudinal genome-wide association study (GWAS).
- Analyzed 69,500 individuals, including 408 DDH cases, examining over 8.5 million SNPs.
- Performed meta-analysis with existing GWAS data for DDH and primary osteoarthritis.
Main Results:
- Identified two significant single nucleotide polymorphisms (SNPs) near the COL11A1 gene associated with DDH.
- The identified SNPs (rs713162 and rs6577334) showed a strong association with DDH (p < 10^-8).
- COL11A1 has prior associations with acetabular dysplasia and osteoarthritis, further supported by meta-analysis.
Conclusions:
- This GWAS provides evidence for an association between COL11A1 and DDH.
- The findings contribute to understanding DDH etiology and warrant further investigation.
- Further research is crucial for translating these genetic insights into clinical applications for DDH.
Objective:
Developmental dysplasia of the hip (DDH) is a congenital condition affecting 2-3% of all infants. DDH increases the risk of osteoarthritis, is the cause of 30 % of all total hip arthroplasties (THAs) in adults <40 years of age and can result in loss of life quality. Our aim was to explore the genetic background of DDH in order to improve diagnosis, management and longterm outcome.
Design:
We used the large, ongoing, longitudinal Trøndelag Health Study (HUNT) database. Case definition was based on ICD-9/-10 diagnoses of DDH, or osteoarthritis secondary to DDH. Analyses were performed using SAIGE software, with covariates including sex, batch, birth year and principal components. We included only single nucleotide polymorphisms (SNPs) with minor allele frequency (MAF) 0.01, R2 0.8 and Hardy-Weinberg equilibrium (HWE) P-value 0.0001. Significance level was set at p < 5 × 10-8. Meta-analysis using data from DDH and primary osteoarthritis genome-wide association studies (GWASs) was done using METAL software. The study was approved by the regional ethical committee.
Results:
Analysis included 69,500 individuals, of which 408 cases, and 8,531,386 SNPs. Two SNPs near COL11A1 were significantly associated with DDH; rs713162 ( = -0.43, SE = 0.07, p = 8.4 × 10-9) and rs6577334 ( = -0.43, SE = 0.08, p = 8.9 × 10-9). COL11A1 has previously been associated with acetabular dysplasia and osteoarthritis. Meta-analysis supported previous GWAS findings of both DDH and primary osteoarthritis.
Conclusions:
This large, genome-wide case-control study indicates an association between COL11A1 and DDH and is an important contribution to investigating the etiology of DDH, with further research needed.
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