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Identification of novel high-impact recessively inherited type 2 diabetes risk variants in the Greenlandic population

Overview of attention for article published in Diabetologia, June 2018
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (88th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (53rd percentile)

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Title
Identification of novel high-impact recessively inherited type 2 diabetes risk variants in the Greenlandic population
Published in
Diabetologia, June 2018
DOI 10.1007/s00125-018-4659-2
Pubmed ID
Authors

Niels Grarup, Ida Moltke, Mette K. Andersen, Peter Bjerregaard, Christina V. L. Larsen, Inger K. Dahl-Petersen, Emil Jørsboe, Hemant K. Tiwari, Scarlett E. Hopkins, Howard W. Wiener, Bert B. Boyer, Allan Linneberg, Oluf Pedersen, Marit E. Jørgensen, Anders Albrechtsen, Torben Hansen

Abstract

In a recent study using a standard additive genetic model, we identified a TBC1D4 loss-of-function variant with a large recessive impact on risk of type 2 diabetes in Greenlanders. The aim of the current study was to identify additional genetic variation underlying type 2 diabetes using a recessive genetic model, thereby increasing the power to detect variants with recessive effects. We investigated three cohorts of Greenlanders (B99, n = 1401; IHIT, n = 3115; and BBH, n = 547), which were genotyped using Illumina MetaboChip. Of the 4674 genotyped individuals passing quality control, 4648 had phenotype data available, and type 2 diabetes association analyses were performed for 317 individuals with type 2 diabetes and 2631 participants with normal glucose tolerance. Statistical association analyses were performed using a linear mixed model. Using a recessive genetic model, we identified two novel loci associated with type 2 diabetes in Greenlanders, namely rs870992 in ITGA1 on chromosome 5 (OR 2.79, p = 1.8 × 10-8), and rs16993330 upstream of LARGE1 on chromosome 22 (OR 3.52, p = 1.3 × 10-7). The LARGE1 variant did not reach the conventional threshold for genome-wide significance (p < 5 × 10-8) but did withstand a study-wide Bonferroni-corrected significance threshold. Both variants were common in Greenlanders, with minor allele frequencies of 23% and 16%, respectively, and were estimated to have large recessive effects on risk of type 2 diabetes in Greenlanders, compared with additively inherited variants previously observed in European populations. We demonstrate the value of using a recessive genetic model in a historically small and isolated population to identify genetic risk variants. Our findings give new insights into the genetic architecture of type 2 diabetes, and further support the existence of high-effect genetic risk factors of potential clinical relevance, particularly in isolated populations. The Greenlandic MetaboChip-genotype data are available at European Genome-Phenome Archive (EGA; https://ega-archive.org/ ) under the accession EGAS00001002641.

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X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 42 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 42 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 10 24%
Researcher 5 12%
Student > Bachelor 5 12%
Student > Ph. D. Student 4 10%
Student > Doctoral Student 3 7%
Other 7 17%
Unknown 8 19%
Readers by discipline Count As %
Medicine and Dentistry 10 24%
Biochemistry, Genetics and Molecular Biology 9 21%
Nursing and Health Professions 4 10%
Agricultural and Biological Sciences 4 10%
Business, Management and Accounting 1 2%
Other 4 10%
Unknown 10 24%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 19. 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 04 July 2023.
All research outputs
#1,874,890
of 25,081,505 outputs
Outputs from Diabetologia
#1,023
of 5,337 outputs
Outputs of similar age
#38,439
of 334,322 outputs
Outputs of similar age from Diabetologia
#28
of 58 outputs
Altmetric has tracked 25,081,505 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 5,337 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 24.5. This one has done well, scoring higher than 80% 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 334,322 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 58 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 53% of its contemporaries.