| Title |
Genome-wide analyses identify common variants associated with macular telangiectasia type 2
|
|---|---|
| Published in |
Nature Genetics, February 2017
|
| DOI | 10.1038/ng.3799 |
| Pubmed ID | |
| Authors |
Thomas S Scerri, Anna Quaglieri, Carolyn Cai, Jana Zernant, Nori Matsunami, Lisa Baird, Lea Scheppke, Roberto Bonelli, Lawrence A Yannuzzi, Martin Friedlander, Catherine A Egan, Marcus Fruttiger, Mark Leppert, Rando Allikmets, Melanie Bahlo |
| Abstract |
Idiopathic juxtafoveal retinal telangiectasis type 2 (macular telangiectasia type 2; MacTel) is a rare neurovascular degenerative retinal disease. To identify genetic susceptibility loci for MacTel, we performed a genome-wide association study (GWAS) with 476 cases and 1,733 controls of European ancestry. Genome-wide significant associations (P < 5 × 10(-8)) were identified at three independent loci (rs73171800 at 5q14.3, P = 7.74 × 10(-17); rs715 at 2q34, P = 9.97 × 10(-14); rs477992 at 1p12, P = 2.60 × 10(-12)) and then replicated (P < 0.01) in an independent cohort of 172 cases and 1,134 controls. The 5q14.3 locus is known to associate with variation in retinal vascular diameter, and the 2q34 and 1p12 loci have been implicated in the glycine/serine metabolic pathway. We subsequently found significant differences in blood serum levels of glycine (P = 4.04 × 10(-6)) and serine (P = 2.48 × 10(-4)) between MacTel cases and controls. |
X Demographics
The data shown below were collected from the profiles of 27 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Australia | 8 | 30% |
| United States | 6 | 22% |
| United Kingdom | 3 | 11% |
| Curaçao | 1 | 4% |
| Switzerland | 1 | 4% |
| Unknown | 8 | 30% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 14 | 52% |
| Scientists | 13 | 48% |
Mendeley readers
The data shown below were compiled from readership statistics for 82 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 82 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 24 | 29% |
| Student > Ph. D. Student | 14 | 17% |
| Student > Bachelor | 6 | 7% |
| Student > Postgraduate | 4 | 5% |
| Student > Doctoral Student | 3 | 4% |
| Other | 11 | 13% |
| Unknown | 20 | 24% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 18 | 22% |
| Medicine and Dentistry | 14 | 17% |
| Agricultural and Biological Sciences | 8 | 10% |
| Computer Science | 3 | 4% |
| Nursing and Health Professions | 3 | 4% |
| Other | 9 | 11% |
| Unknown | 27 | 33% |
Attention Score in Context
This research output has an Altmetric Attention Score of 197. 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 28 December 2021.
All research outputs
#177,237
of 23,577,761 outputs
Outputs from Nature Genetics
#310
of 7,294 outputs
Outputs of similar age
#4,158
of 313,343 outputs
Outputs of similar age from Nature Genetics
#15
of 81 outputs
Altmetric has tracked 23,577,761 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 99th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,294 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 41.7. This one has done particularly well, scoring higher than 95% 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 313,343 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 98% of its contemporaries.
We're also able to compare this research output to 81 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.