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The genetic contribution and relevance of knee cartilage defects: Case-control and sib-pair studies

journal contribution
posted on 2023-05-16, 17:15 authored by Chang-Hai DingChang-Hai Ding, Cicuttini, F, Fiona ScottFiona Scott, Jim Stankovich, Cooley, HM, Graeme JonesGraeme Jones
Objective. To describe the differences in knee cartilage defects between offspring of subjects with at least one parent with a total knee replacement for severe primary knee osteoarthritis (OA) and controls; and to estimate the heritability of knee cartilage defects in sib-pairs. Methods. Population based, case-control study of 186 matched pairs (mean age 45 yrs, range 26-61) and sib-pair study of 128 subjects from 51 families (115 sib-pairs) within the case-control study. Knee cartilage defect scores (0-4) and prevalence (a cartilage defect score ≥ 2) were assessed at the patellar, tibial, and femoral sites by processing images acquired using T1 weighted fat-saturated magnetic resonance imaging. Heritability was estimated using the SOLAR genetic analysis program. Results. The prevalence of knee cartilage defects was surprisingly high (50% scored ≥ 2 in any site). Compared to controls, offspring had higher knee cartilage defect scores and prevalence in tibiofemoral (4.39 vs 4.01, p = 0.003; 41% vs 28%, p = 0.009), patellar (1.32 vs 1.10, p = 0.031; 35% vs 26%, p = 0.075), and whole (5.71 vs 5.10, p = 0.002; 57% vs 42%, p = 0.007) compartments. These all became nonsignificant after adjustment for knee pain and radiographic OA. In the sib-pair component, knee cartilage defects had heritability for scores and prevalence, respectively, of 38% (p = 0.072) and 47% (p = 0.082) for tibiofemoral, 52% (p = 0.009) and 78% (p = 0.025) for patellar, and 43% (p = 0.038) and 68% (p = 0.072) for the whole compartments. These estimates became weaker at tibiofemoral and whole compartments after adjustment for bone size, knee pain, and radiographic OA. Conclusion. Knee cartilage defects are common, have a genetic component that is linked to the genetic contribution to knee pain and bone size, and may have a role in the genetic pathogenesis of knee OA.

History

Publication title

Journal of Rheumatology

Volume

32

Issue

10

Pagination

1937-42

ISSN

0315-162X

Department/School

Menzies Institute for Medical Research

Publisher

J Rheumatol Publ Co

Place of publication

Toronto, Canada

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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