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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Fine mapping and resequencing of the PARK16 locus in Parkinson’s disease
|
|---|---|
| Published in |
Journal of Human Genetics, April 2015
|
| DOI | 10.1038/jhg.2015.34 |
| Pubmed ID | |
| Authors |
Lasse Pihlstrøm, Aina Rengmark, Kari Anne Bjørnarå, Nil Dizdar, Camilla Fardell, Lars Forsgren, Björn Holmberg, Jan Petter Larsen, Jan Linder, Hans Nissbrandt, Ole-Bjørn Tysnes, Espen Dietrichs, Mathias Toft |
| Abstract |
The PARK16 locus, spanning five genes on chromosome 1, was among the first genetic regions to show genome-wide association in Parkinson's disease (PD). Subsequent investigations have found variability in PARK16 top-hits and association patterns across populations, and the implicated genes and mechanisms are currently unclear. In the present study, we aimed to explore the contribution of PARK16 variability to PD risk in a Scandinavian population. We genotyped 17 single-nucleotide polymorphisms in a case-control sample set of 2570 individuals from Norway and Sweden to fine map the locus. Targeted resequencing of the full coding regions of SLC45A3, NUCKS1, RAB7L1, SLC41A1 and PM20D1 was performed in DNA pools from a subset of 387 patient samples. We find evidence for an association with PD for rs1775143 as well as a haplotype located around the 5' region of RAB7L1, implicating variants which are not in high linkage disequilibrium with the strongest signal from a recent large meta-analysis in Caucasians. We also provide suggestive support for epistasis between RAB7L1 and LRRK2 as previously hypothesized by others. Comparing our results with previous work, allelic heterogeneity at PARK16 appears likely, and further studies are warranted to disentangle the complex patterns of association and pinpoint the functionally relevant variants.Journal of Human Genetics advance online publication, 9 April 2015; doi:10.1038/jhg.2015.34. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 44 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 2% |
| Unknown | 43 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 14 | 32% |
| Researcher | 9 | 20% |
| Student > Bachelor | 6 | 14% |
| Student > Master | 3 | 7% |
| Student > Doctoral Student | 2 | 5% |
| Other | 3 | 7% |
| Unknown | 7 | 16% |
| Readers by discipline | Count | As % |
|---|---|---|
| Neuroscience | 11 | 25% |
| Agricultural and Biological Sciences | 10 | 23% |
| Biochemistry, Genetics and Molecular Biology | 8 | 18% |
| Medicine and Dentistry | 4 | 9% |
| Chemistry | 2 | 5% |
| Other | 2 | 5% |
| Unknown | 7 | 16% |
Attention Score in Context
This research output has an Altmetric Attention Score of 14. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 12 October 2023.
All research outputs
#2,480,828
of 24,727,020 outputs
Outputs from Journal of Human Genetics
#125
of 1,728 outputs
Outputs of similar age
#31,498
of 269,892 outputs
Outputs of similar age from Journal of Human Genetics
#7
of 38 outputs
Altmetric has tracked 24,727,020 research outputs across all sources so far. Compared to these this one has done well and is in the 89th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,728 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.8. This one has done particularly well, scoring higher than 92% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 269,892 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 88% of its contemporaries.
We're also able to compare this research output to 38 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 81% of its contemporaries.