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research: gender, genetics and autism

21 February 2005

Gender and genes are known to influence the risk of developing autism, but it now appears that the gender of the parent passing on a gene can be important too.

Anthony Monaco and colleagues at the Wellcome Trust Centre for Human Genetics in Oxford, as part of an international study, examined DNA from families with multiple individuals affected by autism. The research looked for chromosome regions containing genetic variants linked to the condition.

Striking gender-specific effects were seen in different types of sibling pair: brother–brother, brother–sister and sister–sister pairs. Some chromosome regions appeared to influence autism risk only in brother–brother pairs, while others affected brother–sister and sister–sister pairs. In addition, the effects of three other susceptibility loci depended on which parent they had been inherited from.

These findings may help explain why four times as many males as females are affected by autism. They also suggest that imprinted genes (the activity of which depends on whether they are inherited from the mother or father), or genetic variants that have sex-specific effects, may contribute to autism susceptibility.

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