Ashkenazi Parkinson's disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries.
The LRRK2 G2019S mutation is a major genetic determinant of Parkinson's disease (PD) across the world that occurs at an elevated frequency in Ashkenazi Jews. We determined the LRRK2 haplotypes in 77 G2019S carriers, mostly Ashkenazi Jews, and in 50 noncarrier Ashkenazi PD patients, using 16 genetic markers. A single haplotype was detected in all mutation carriers, indicating that these individuals share a common founder. Using a maximum-likelihood method, we estimate that Ashkenazi Jews with G2019S share a common ancestor who lived approximately 1,830 (95% CI 1,560-2,160) years ago, around the second century, after the second Jewish Diaspora.
Bar-Shira
Anat
A
Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, 64239, Israel.
Hutter
Carolyn M
CM
Giladi
Nir
N
Zabetian
Cyrus P
CP
Orr-Urtreger
Avi
A
D000483:Alleles; D019943:Amino Acid Substitution; D018703:Founder Effect; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D049690:History, Ancient; D006801:Humans; D007585:Jews / Q000235:genetics*; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D010300:Parkinson Disease / Q000235:genetics* / Q000266:history; D017354:Point Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
D005819:Genetic Markers; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases