title: LRRK2 G2019S mutation does not contribute to Parkinson's disease in South India.
abstract: BACKGROUND
  The frequency of leucine-rich repeat kinase 2 (LRRK2) G2019S mutation, the most common genetic cause of Parkinson's disease (PD), shows significant variation based on ethnicity. Earlier reports suggest a very low frequency or absence of this mutation in Asians.
  
  
  OBJECTIVE
  To analyze the frequency of LRRK2 G2019S mutation in sporadic and familial cases of PD and normal controls of common ethnicity from South India.
  
  
  METHODS
  We used direct sequencing technique of all DNA samples in a clinic-based study of sporadic (n = 100) and familial PD patients (n = 86 index cases) and normal controls (n = 100) of common ethnicity from South India.
  
  
  RESULTS
  None among the patients or controls had the G2019S mutation.
  
  
  CONCLUSIONS
  The founding events that influenced a number of other populations/ethnicities had no impact on the genetic makeup of PD patients from South India. Our findings support the current view that G2019S-associated PD may be population-specific. This has implications in genetic testing for PD and selection of subjects for potential future gene-based therapeutic trials for G2019S carriers in such populations.
authors.affiliation: Department of Neurology, Comprehensive Care Centre for Movement Disorders, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Kerala, India.
authors.forename: Bejoy
authors.initials: B
authors.lastname: Vijayan
authors.forename: Srinivas
authors.initials: S
authors.lastname: Gopala
authors.forename: Asha
authors.initials: A
authors.lastname: Kishore
mesh_terms: D000368:Aged; D000483:Alleles; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007194:India; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000208:ethnology / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases