Trio approach reveals higher risk of PD in carriers of severe vs. mild GBA mutations.
作者： David Arkadir , Tama Dinur , Stephen Mullin , Atul Mehta , Hagit N Baris
DOI: 10.1016/J.BCMD.2016.11.007
关键词:
摘要: Heterozygote GBA (glucosylceramidase beta) mutations increase the risk of Parkinson's disease (PD). Data based on measured frequencies mutated alleles in healthy population suggest that severe are associated with even higher for PD. These data, however, prone to methodological biases resulting from rarity and ethnic-dependent differences allele frequencies. To overcome these biases, we traced 13 Gaucher (GD) patients who were compound heterozygotes one mild (N370S) mutation reported a parent We determined status all parents examined them whenever possible. While 50% carried mutation, hypothesized PD cases would be more likely carry mutation. found 10/13 had only 3/10 (binomial test P<0.05). Using an unbiased methodology, show carriers at relative mutations.
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