SNCA Rep1 promoter variability influences cognition in Parkinson's disease

• Published in: Movement disorders Vol. 34; no. 8; pp. 1232 - 1236
• Main Authors: Ng, Adeline S.L., Tan, Yi Jayne, Zhao, Yi, Saffari, Seyed Ehsan, Lu, Zhonghao, Ng, Ebonne Y.L., Ng, Samuel Y.E., Chia, Nicole S.Y., Setiawan, Fiona, Xu, Zheyu, Tay, Kay Yaw, Au, Wing Lok, Tan, Louis C.S., Tan, Eng‐King
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.08.2019; Wiley Subscription Services, Inc
• Subjects: Alleles; Apolipoproteins; cognition; Cognition & reasoning; Cognitive ability; genetics; Genotypes; Movement disorders; Neurodegenerative diseases; Parkinson's disease; SNCA Rep1 promoter; Synuclein; Parkinson's disease; genetics; cognition; SNCA Rep1 promoter
• ISSN: 0885-3185; 1531-8257
• DOI: 10.1002/mds.27768

Background While the association between alpha‐synuclein gene promoter (Rep1) variability and risk of PD is well established, its association with cognition is unclear. Objectives To investigate the association between Rep1 and motor and cognitive outcomes in PD. Methods Rep1 allele lengths were determined in 172 PD patients who were grouped into “long” and “short” carriers according to previous methods. Multivariable regression analysis was performed to investigate the effect of Rep1 length on cognitive and motor scores. Results Long Rep1 allele carriers had significantly lower MMSE (P = 0.010) and higher UPDRS Part III (P = 0.026) and H & Y (P = 0.008) scores compared to short allele carriers (controlled for age, sex, and disease duration). Interaction analyses of Rep1 with apolipoprotein 4 revealed no significant effect on clinical outcomes. Conclusions PD patients carrying long Rep1 alleles are more impaired on cognitive and motor function independent of apolipoprotein 4 genotype. © 2019 International Parkinson and Movement Disorder Society