Return to search

Association study of two SLC6A4 polymorphisms with autism.

INTERDISCIPLINARY STUDIES: NEUROGENETICS
ASSOCIATION STUDY OF TWO SLC6A4 POLYMORPHISMS
WITH AUTISM
JACQUELYN RECKTENWALD
Thesis under the direction of Professor James Sutcliffe
Autism is a heritable neurodevelopmental disorder characterized by impairments in language development and use, social interaction and repetitive behaviors, restricted interests and resistance to change. Serotonergic system dysregulation is implicated in autism since ~25% of individuals with autism have blood platelet hyperserotonemia, selective serotonin reuptake inhibitors are efficacious in treating repetitive behaviors, anger and anxiety in autism, and PET studies indicate children with autism have less capacity for CNS serotonin synthesis than children without autism. These findings indicate the serotonin transporter (SERT) as a strong candidate susceptibility gene and studies point toward linkage in a region containing the SERT gene (SLC6A4) locus with autism. Two SLC6A4 repeat polymorphisms, HTTLPR and VNTR, are located in the promoter region upstream of SLC6A4 and in the second intron, respectively, and regulate SERT expression. Association studies of HTTLPR or VNTR polymorphisms with autism are inconclusive. We hypothesized that there would be preferential transmission of an HTTLPR polymorphism, VNTR polymorphism and a haplotype containing these polymorphisms to affected individuals in our sample. We found no association of any HTTLPR polymorphisms or VNTR polymorphisms with autism in our sample and further we did not find any association of a haplotype containing these polymorphisms with autism in our sample. Paternal inheritance of VNTR alleles was associated with the social intent and milestones (p =.02 and p = .05, respectively) components of the ADI-R, however, these two association results may be due to chance.

Identiferoai:union.ndltd.org:VANDERBILT/oai:VANDERBILTETD:etd-12072007-160412
Date28 December 2007
CreatorsRecktenwald, Jacquelyn Ann
ContributorsJames S. Sutcliffe
PublisherVANDERBILT
Source SetsVanderbilt University Theses
LanguageEnglish
Detected LanguageEnglish
Typetext
Formatapplication/pdf
Sourcehttp://etd.library.vanderbilt.edu/available/etd-12072007-160412/
Rightsunrestricted, I hereby certify that, if appropriate, I have obtained and attached hereto a written permission statement from the owner(s) of each third party copyrighted matter to be included in my thesis, dissertation, or project report, allowing distribution as specified below. I certify that the version I submitted is the same as that approved by my advisory committee. I hereby grant to Vanderbilt University or its agents the non-exclusive license to archive and make accessible, under the conditions specified below, my thesis, dissertation, or project report in whole or in part in all forms of media, now or hereafter known. I retain all other ownership rights to the copyright of the thesis, dissertation or project report. I also retain the right to use in future works (such as articles or books) all or part of this thesis, dissertation, or project report.

Page generated in 0.0019 seconds