title: No association of the norepinephrine transporter gene (SLC6A2) and cognitive and behavioural phenotypes of patients with autism spectrum disorder.
abstract: We examined the association between the norepinephrine transporter (SLC6A2) gene and autism spectrum disorder (ASD) in a Korean population. In addition, we investigated which phenotypes of ASD are best attributed to the genotype of SLC6A2. A total of 184 subjects with ASD, their 156 unaffected siblings and both biological parents were recruited through university hospitals. We used the Autism Diagnostic Interview-Revised, the Aberrant Behaviour Checklist (ABC), the Child Behaviour Checklist (CBCL), the Stroop Colour-Word Interference Test and the Wisconsin Card Sorting Test (WCST) as quantitative measures of the ASD phenotypes. The associations between the quantitative measures and specific single-nucleotide polymorphisms (SNPs) were tested with linear regression analyses. We did not find any evidence of the over-transmission of either allele of the 10SLC6A2 SNPs in the DFAM test. At an empirical p value <0.05, findings that were consistent between the linear regression analyses and the QFAM tests were the positive associations between the A allele of rs36020 and attention problems on the CBCL and stereotypical behaviours on the ABC and between the C allele of rs1814270 and the number of trials required to complete the first WCST category. However, these associations did not remain after correction for multiple testing. The study results of this study do not support the association between the SLC6A2 and the diagnosis or phenotype of ASD. However, the study must be replicated in larger populations and with using more genetic markers.
authors.affiliation: Division of Child and Adolescent Psychiatry, Department of Psychiatry, Seoul National University College of Medicine, Seoul, Republic of Korea.
authors.forename: Subin
authors.initials: S
authors.lastname: Park
authors.forename: Jong-Eun
authors.initials: JE
authors.lastname: Park
authors.forename: Soo-Churl
authors.initials: SC
authors.lastname: Cho
authors.forename: Bung-Nyun
authors.initials: BN
authors.lastname: Kim
authors.forename: Min-Sup
authors.initials: MS
authors.lastname: Shin
authors.forename: Jae-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: In Hee
authors.initials: IH
authors.lastname: Cho
authors.forename: Soon Ae
authors.initials: SA
authors.lastname: Kim
authors.forename: Mira
authors.initials: M
authors.lastname: Park
authors.forename: Tae-Won
authors.initials: TW
authors.lastname: Park
authors.forename: Jung-Woo
authors.initials: JW
authors.lastname: Son
authors.forename: Un-Sun
authors.initials: US
authors.lastname: Chung
authors.forename: Hee Jeong
authors.initials: HJ
authors.lastname: Yoo
mesh_terms: D000293:Adolescent; D001526:Behavioral Symptoms / Q000209:etiology* / Q000235:genetics*; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000150:complications* / Q000235:genetics; D002675:Child, Preschool; D003072:Cognition Disorders / Q000209:etiology* / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D007360:Intelligence; D008297:Male; D009154:Mutation / Q000235:genetics; D009483:Neuropsychological Tests; D050484:Norepinephrine Plasma Membrane Transport Proteins / Q000235:genetics*; D010641:Phenotype; D011569:Psychiatric Status Rating Scales; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D050484:Norepinephrine Plasma Membrane Transport Proteins; C493227:SLC6A2 protein, human