SLC6A3 rs28363170 and rs3836790 variants in Han Chinese patients with sporadic Parkinson’s disease

• The association of two SLC6A3 variants with Parkinson’s disease was studied.
• 521 Han Chinese patients with sporadic Parkinson’s disease were genotyped.
• Rs28363170 and rs3836790 are not related to Chinese Parkinson’s disease.

Parkinson’s disease (PD; OMIM 168600) is the second most common neurodegenerative disorder characterized by the loss of dopamine-producing neurons in the substantia nigra and other brainstem nuclei. Recently, two variants (rs28363170 and rs3836790) in the solute carrier family 6 member 3 gene (SLC6A3) were identified to be significantly associated with PD patients in French population. The purpose of our study was to explore whether these two variants are associated with sporadic PD in Han Chinese population. We designed a case-control comparison study in 521 Han Chinese patients with sporadic PD and 502 age, gender and ethnicity matched normal controls from Mainland China. There is no statistically significant difference in either genotypic or allelic distribution between disease group and normal controls in our cohort for the two variants (all P > 0.05). In addition, we did not identify any related haplotype that would either increase the risk for PD or play a protective role against PD. Our data suggest that variants rs28363170 and rs3836790 are not associated with sporadic PD in Han Chinese population.