AC joint osteoarthritis: the role of genetics. An MRI evaluation of asymptomatic elderly twins

Purpose: The anatomy of the articular surfaces has historically identified as major responsible for acromioclavicular joint osteoarthritis (ACJO). On the other side, the almost 100% prevalence of ACJO in subjects over 50 years old seems to suggest a multifactorial etiology. We compared ACJO between asymptomatic elderly monozygotic (MZ) and dizygotic (DZ) twins to investigate the influence of genetics and environmental factors. Materials and Methods: Thirty pairs of twins [15MZ-15DZ; mean age (SD): 63.70 (3.31); range: 53–72] were retrospectively enrolled. ACJO was evaluated on MRI through a 4-grade severity scale and ACJ configuration was assessed. Information regarding work activity were obtained. Heritability index was calculated. Results: The intraclass correlation coefficient (ICC) value of 0.868 (95% CI; 0.798 to 0.917). An ICC values of 0.889 (95% CI; 0.798 to 0.944) and 0.843 (95% CI, 0.712 to 0.920) were found in the MZ and DZ groups, respectively. The polychoric correlation was 0.857 in the MZ twins and 0.757 in the DZ twins. The calculated heritability index was 0.20 (20%), and the contribution of the shared environment (c2) and unique environment (e2) was 0.66 (66%) and 0.14 (14%), respectively. No relationship between job types and ACJO in both the total cohort (r = 0.089; p = 0.499) and in the monozygotic (r = 0.247; p = 0.187) and the dizygotic twin groups (r = −0.084; p = 0.658) was found. Conclusions: The role of genetics on ACJO accounts for only 20%; a specific anatomical configuration of the articular surfaces only partially acts on the development of joint osteoarthritis. Environmental factors have the greatest impact. Level of Evidence: IV.