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UnknownA novel founder mutation in the RNASEL gene, 471delAAAG, is associated with prostate cancer in Ashkenazi Jews.
HPC1/RNASEL was recently identified as a candidate gene for hereditary prostate cancer. We identified a novel founder frameshift mutation in RNASEL, 471delAAAG, in Ashkenazi Jews. The mutation frequency in the Ashkenazi population, estimated on the basis of the frequency in 150 healthy young women, ...
S-EPMC378554 | biostudies-literature
UnknownGenome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.
The recent series of large genome-wide association studies in European and Japanese cohorts established that Parkinson disease (PD) has a substantial genetic component. To further investigate the genetic landscape of PD, we performed a genome-wide scan in the largest to date Ashkenazi Jewish cohort ...
S-EPMC4119402 | biostudies-literature
UnknownDifferential effects of severe vs mild GBA mutations on Parkinson disease.

Objective

To better define the genotype-phenotype correlations between the type of GBA (glucosidase, beta, acid) mutation, severe or mild, and the risk and age at onset (AAO), and potential mechanism of Parkinson disease (PD).

Methods

We analyzed 1,000 patients of Ashkenazi-Jewish des...
S-EPMC4351661 | biostudies-literature
UnknownMAPT Locus in Parkinson's Disease Patients of Ashkenazi Origin: A Stratified Analysis.
Introduction: MAPT locus is associated with Parkinson's disease (PD), which is located within a large inversion region of high linkage disequilibrium (LD). We aimed to determine whether the H2-haplotype protective effect and its effect size depends on the GBA1 or LRRK2 ri...
S-EPMC10815687 | biostudies-literature
UnknownGlucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity.

Background

Mutations in the GBA gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase), are risk factors for Parkinson's disease (PD).

Objective

To explore the association between GCase activity, PD phenotype, and probability for prodromal PD among carriers of mutations i...
S-EPMC9292990 | biostudies-literature
UnknownMutations in GBA and LRRK2 Are Not Associated with Increased Inflammatory Markers.

Background

Inflammation is an integral part of neurodegeneration including in Parkinson's disease (PD). Ashkenazi Jews have high rates of genetic PD with divergent phenotypes among GBA-PD and LRRK2-PD. The role of inflammation in the prodromal phase of PD and the association with disease phe...
S-EPMC8461659 | biostudies-literature
UnknownNonmotor symptoms in healthy Ashkenazi Jewish carriers of the G2019S mutation in the LRRK2 gene.

Background

The asymptomatic carriers of the Leucine rich repeat kinase 2 (LRRK2) G2019S mutation represent a population at risk for developing PD. The aim of this study was to assess differences in nonmotor symptoms between nonmanifesting carriers and noncarriers of the G2019S mutation.

M...

S-EPMC4478229 | biostudies-literature
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