TY - JOUR T1 - Parkinson’s disease GWAS-linked Park16 carriers show greater motor progression JF - Journal of Medical Genetics JO - J Med Genet SP - 765 LP - 768 DO - 10.1136/jmedgenet-2018-105661 VL - 56 IS - 11 AU - Xiao Deng AU - Bin Xiao AU - John Carson Allen AU - Ebonne Ng AU - Jia Nee Foo AU - Yew-Long Lo AU - Louis C S Tan AU - Eng-King Tan Y1 - 2019/11/01 UR - http://jmg.bmj.com/content/56/11/765.abstract N2 - Background Data on the long-term motor outcomes of genome-wide association study (GWAS)-linked Parkinson disease (PD) carriers are useful for clinical management.Objectives To characterise the association between GWAS-linked PARK16 gene variant and disease progression in PD over a 9-year time frame.Methods Over a 9-year period, carriers of PARK16 rs11240572 variant and non-carriers were followed up and evaluated using the modified Hoehn and Yahr (H&Y) staging scale and Unified Parkinson’s Disease Rating Scale (UPDRS) part III. A longitudinal, linear mixed model was performed to compare the changes of H&Y staging scale, UPDRS motor score and UPDRS subscores between the two groups.Results A total of 156 patients (41 PARK16 carriers and 115 non-carriers) were evaluated and followed up for up to 9 years. Using longitudinal linear mixed model analysis, there was a greater rate of deterioration in the motor function as measured by the UPDRS scores compared with non-carriers after 5 years from the date of diagnosis (p=0.009). In addition, we demonstrated that PARK16 variant carriers had worse gait scores (p=0.043) and greater motor progression than non-carriers after 6 years based on the modified H&Y staging scale (p=0.040).Conclusions In a 9-year longitudinal study, we demonstrated that PD PARK16 variant carriers exhibited greater motor progression after 5 years of disease compared with non-carriers, suggesting that GWAS-linked gene variants may influence disease progression over time. Closer monitoring and management of these higher risk patients can facilitate a better quality of life. ER -