CaseControlLabel: Toma 2013 CNTNAP2 rs7794745 analysis
CaseCohortLabel: 322 Autism patients
ControlCohortLabel: 524 controls
CaseCohortDisease: MONDO:0005260 (Autism)
CaseCohortPhenotype:
CaseCohortPhenotypesFreeText: Authors indicate that all individuals fulfilled DSM-IV criteria for autism or Asperger disorder. Additionally, some cases included where diagnosed with pervasive developmental disorder they may or may not have been characterized based on ADI-R and ADOS-G.
CaseControlNOTPhenotype:
CaseControlNOTPhenotypeFreeText:
CaseDemographics: 269 men, 53 women, Average age= = 17y.o. of Spanish and/or Caucasian descent.
ControlDemographics: controls were noted to be sex-matched and unrelated, however no numbers or ages were indicated. Sample obtained from the Blood and Tissues Bank of Hospital Universitari Vali d'Hebron.
CaseGenotypingMethod: One SNP, rs7794745, was genotyped using PCR-RFLP, from DNA obtained from peripheral blood lymphocytes (salting out method).
ControlGenotypingMethod: One SNP, rs7794745, was genotyped using PCR-RFLP, from DNA obtained from peripheral blood lymphocytes (salting out method).
CasePower: 312/322
ControlPower: 505/524
CaseAddInfo: Other genetic variation is not noted.
ControlAddInfo: Other genetic variation is not noted.
CaseControlStudyType: Single Variant Analysis
CaseControlDetectionMethod: Cases and controls genotyped for single variant
CaseControlStats: p-value= 0.87
CaseControlBias: Cases and controls are ethinically matched, and noted to be sex-matched.
CaseControlComments: