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Chunk #31 — Discussion

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Variation in the oxytocin receptor gene is associated with pair-bonding and social behavior.
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In the current study rs7632287, but none of the other SNPs, was associated with pair-bonding related behaviors using several measures and cohorts. The rs7632287 SNP is located in the 3′ region of OXTR and has recently been associated with autism in two previous studies (although not significant after multiple testing) (41, 43). Of the candidate gene studies of OXTR and risk of autism conducted so far, these two studies comprises the largest number of patients and are the only investigating the rs7632287 SNP. Interestingly, although both these studies, as well as ours, comprise most of the SNPs associated to autism in other studies the association to rs7632287 was the strongest. In comparison to our results it is however puzzling that these studies show associations between autism and the major allele (the G-allele) whereas our data suggest associations between increased number of symptoms related social problems and autism in childhood (as well as an decreased ability to bond to a partner in adulthood) and the minor allele (the A-allele). Although not making the reverse direction of association between studies less puzzling