Negative screening for 12 rare LRRK2 pathogenic variants in a cohort of Nigerians with Parkinson's disease.

摘要: Abstract Leucine-rich repeat kinase 2 (LRRK2) gene mutations are the most common genetic cause of Parkinson's disease (PD). More than 300 rare LRRK2 variants have been described, with approximately 17 having confirmed or probable pathogenic role in PD. The distribution differs across ethnic groups, but no PD-related variant has described persons Black African ancestry within outside Africa. We previously reported absence p.Gly2019Ser mutation 126 PD and 55 controls from Nigeria. Using Kompetitive Allele Specific Polymerase Chain Reaction, we screened a new cohort 92 Nigerians 210 ethnically matched for 12 shown to be other populations, including p.Gly2019Ser, p.Arg1441His, p.Gly2385Arg, p.Ala419Val, p.Arg1628Pro, p.Pro755Leu, p.Ile2020Thr, Tyr1699Cys. All were absent controls, endorsing our previous findings confirming that Caucasians, Asians, mixed West Africans. Future studies applying next generation sequencing necessary explore novel indigenous