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PAX6 gene and Parkinson's disease

Posted by rleemhuis on 23 Jun 2011 at 08:04 GMT

I have identified a pedigree in which a PAX6 mutation may be a cause of micropthalmia, high myopia and other reported phenotypic manifestations. One member of the pedigree has Parkinson's disease of relatively early onset. Parkinson's disease has been reported in association with PAX6 haploinsufficiency.

I reviewed the 23andme SNPs for these subjects within the PAX6 gene and found nothing obviously unusual.

I suspect that a Parkinson's related mutation may be hiding within PAX6 but is invisible on the 23andme platform.

Has anything interesting shown up at PAX6?

No competing interests declared.

RE: PAX6 gene and Parkinson's disease

chuongdo replied to rleemhuis on 24 Jun 2011 at 10:53 GMT

Thanks for the comment.

We note that Supplementary Table S2 includes a list of all SNPs with p-value < 1e-4 from our data. Separately, we re-examined all SNPs within 50kb of PAX6 and found no associations meeting a nominal level of significance (p < 0.05). As far as we can tell, common variation in this region tagged by the 23andMe genotyping platform does not appear to be significantly associated with Parkinson's. However, this does not exclude a possible role for rare variants in PAX6 that may segregate in your pedigree, whose effects might be difficult to detect in a GWAS.

We're currently working on imputation-based analyses and will be participating in a large Parkinson's disease meta-analysis, both of which may shed some light on these issues.

Competing interests declared: Author