Genetic Impact on Clinical Features in Parkinson’s Disease: A Study on SNCA-rs11931074

الملخص EN

SNCA-rs11931074 had been demonstrated to be strongly correlated with PD risk.

However, there was lack of comprehensive analysis of SNCA-rs11931074-related clinical features which may help explain clinical heterogeneity of PD.

In our study, we performed association analyses on the relationship between SNCA-rs11931074 and motor symptoms, nonmotor symptoms, and comorbidities in PD.

611 rs11931074 carriers and 113 rs11931074 noncarriers were enrolled.

In the clinical phenotype analyses, the Unified Parkinson’s Disease Rating Scale part II (UPDRS II) and part III (UPDRS III) scores of rs11931074 carriers were lower than those of noncarriers (SC: −0.083, p=0.035; SC: −0.140, p≤0.001).

The Charlson Comorbidity Index (CCI) score of carriers was lower than that of noncarriers (SC: −0.097, p=0.009).

No significant statistical differences were found between the variant and other clinical features such as motor complications and nonmotor symptoms.

The SNCA-rs11931074 carriers may present with more benign clinical profiles than noncarriers with less severe motor symptoms and comorbidity burden.