title: Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder.
abstract: Previous studies in three independent cohorts have shown that the rs1858830 C allele variant in the promoter region of the MET gene on chromosome 7q31 is associated with autism. Another study has found correlations between other alterations in the MET gene and autism in two unrelated cohorts. This study screened two cohorts, an Autistic Disorder cohort from South Carolina and a Pervasive Developmental Disorder (PDD) cohort from Italy, for the presence of the C allele variant in rs1858830. A significant increase in the C allele variant frequency was found in the South Carolina Autistic Disorder patients as compared to South Carolina Controls (chi(2)=5.8, df=1, P=0.02). In the South Carolina cohort, a significant association with Autistic Disorder was found when comparing the CC and CG genotypes to the GG genotype (odds ratio (OR)=1.64; 95% confidence interval (CI)=1.12-2.40; chi(2)=6.5, df=1, P=0.01) in cases and controls. In the Italian cohort, no significant association with PDD was found when comparing the CC or CG genotype to the GG genotype (OR=1.20; 95% CI=0.56-2.56; chi(2)=0.2, df=1, P=0.64). This study is the third independent study to find the rs1858830 C variant in the MET gene promoter to be associated with autism.
authors.affiliation: JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.
authors.forename: Pamela B
authors.initials: PB
authors.lastname: Jackson
authors.forename: Luigi
authors.initials: L
authors.lastname: Boccuto
authors.forename: Cindy
authors.initials: C
authors.lastname: Skinner
authors.forename: Julianne S
authors.initials: JS
authors.lastname: Collins
authors.forename: Giovanni
authors.initials: G
authors.lastname: Neri
authors.forename: Fiorella
authors.initials: F
authors.lastname: Gurrieri
authors.forename: Charles E
authors.initials: CE
authors.lastname: Schwartz
mesh_terms: D000293:Adolescent; D000483:Alleles; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D019859:Proto-Oncogene Proteins c-met; D017978:Receptors, Growth Factor / Q000235:genetics*; D013022:South Carolina; D055815:Young Adult
chemical_list: D011518:Proto-Oncogene Proteins; D017978:Receptors, Growth Factor; C491743:MET protein, human; D019859:Proto-Oncogene Proteins c-met