Performed a meta-analysis of all data published on the rs2710102 CNTNAP2 variant up to 2015, and included Anney et al, 2012 (PMID: 20663923), Toma et al., 2013 (PMID: 23277129), Sampath et al, 2013 (PMID: 24147096), Poot et al., 2014 (PMID: 25337070 ), plus there current cohort.

No significant increase in cases vs controls for CNTNAP2 rs2710102

While this data does help support Contradictory evidence for CNTNAP2 involvement in autism, the lack of reporting of the total number of controls, as well as the number of cases and controls with the SNP prevents me from curating this information within the ClinGen gene curation interface.

Performed a meta-analysis of all data published on the rs7794745 CNTNAP2 variant up to 2015, and included Arking et al., 2008 (PMID:18179894), Li et al 2010 (PMID: 20414140), Anney et al, 2012 (PMID: 20663923), Toma et al., 2013 (PMID: 23277129), Sampath et al, 2013 (PMID: 24147096), plus there current cohort.

No significant increase in cases vs controls for CNTNAP2 rs7794745

Genotyped for the two common SNPs in CNTNAP2 rs2710102 rs7794745

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: