AbstractThe serotonin transporter gene (5‐HTT) plays a crucial role in serotonergic neurotransmission and has been found to be associated, with varying degrees of significance, with many diseases, including autism. Prior association studies of autism have yielded conflicting results regarding the association between two common 5‐HTT polymorphisms, the promoter insertion/deletion (5‐HTTLPR) and the intron 2 VNTR (STin2 VNTR). We conducted a systematic review and meta‐analysis to test the following hypotheses: (i) there is an association between autism and either or both of the 5‐HTTLPR and STin2 VNTR polymorphisms, and (ii) the S allele of 5‐HTTLPR and/or the STin2.12 allele of the VNTR are the specific risk alleles for autism. All published family‐based and population based studies were examined to determine the overall strength of association between 5‐HTT polymorphisms and autism. After exclusion of studies with overlapping samples and studies whose data did not allow for calculation of an odds ratio, 16 studies were included for final analyses, all but two of which used a family‐based design. The meta‐analysis failed to find a significant overall association between either of th
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