Nigerian LRRK2 G2019S family - protocols v1

Résumé

The LRRK2 p.G2019S pathogenic variant is one of the most common genetic causes of Parkinson's disease (PD) worldwide, with the highest reported frequencies in North African and Ashkenazi Jewish populations. Conversely, studies from sub-Saharan Africa (SSA) have consistently reported the absence of this variant in Black African cohorts, and recent research in African and African-admixed populations confirms that disease-causingLRRK2 variants are exceedingly rare in individuals of SSA descent. Here, we describe a Nigerian family in which a 50-year-old individual with PD and four unaffected relatives were found to carry theLRRK2p.G2019S variant. Haplotype analysis using single-nucleotide polymorphism (SNP) and microsatellite markers flankingLRRK2was performed on DNA from three members of the Nigerian family and five Tunisian controls. The analysis demonstrated that the Nigerian family shares the core haplotype associated with theLRRK2p.G2019S variant, consistent with the well-established North African founder haplotype.

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