↓ Skip to main content

Targeted exon sequencing fails to identify rare coding variants with large effect in rheumatoid arthritis

Overview of attention for article published in Arthritis Research & Therapy, September 2014
Altmetric Badge

Mentioned by

twitter
1 tweeter

Citations

dimensions_citation
18 Dimensions

Readers on

mendeley
20 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Targeted exon sequencing fails to identify rare coding variants with large effect in rheumatoid arthritis
Published in
Arthritis Research & Therapy, September 2014
DOI 10.1186/s13075-014-0447-7
Pubmed ID
Authors

So-Young Bang, Young-Ji Na, Kwangwoo Kim, Young Bin Joo, Youngho Park, Jaemoon Lee, Sun-Young Lee, Adnan A Ansari, Junghee Jung, Hwanseok Rhee, Jong-Young Lee, Bok-Ghee Han, Sung-Min Ahn, Sungho Won, Hye-Soon Lee, Sang-Cheol Bae

Abstract

IntroductionAlthough it has been suggested that rare coding variants could explain the substantial missing heritability, very few sequencing studies have been performed in rheumatoid arthritis (RA). We aimed to identify novel functional variants with rare to low frequency using targeted exon sequencing of RA in Korea.MethodsWe analyzed targeted exon sequencing data of 398 genes selected from a multifaceted approach in Korean RA patients (n¿=¿1,217) and controls (n¿=¿717). We conducted a single-marker association test and a gene-based analysis of rare variants. For meta-analysis or enrichment test, we also used ethnically matched independent samples of Korean genome-wide association studies (GWAS) (n¿=¿4,799) or immunochip data (n¿=¿4,722).ResultsAfter stringent quality control, we analyzed 10,588 variants of 398 genes from 1,934 Korean RA case-controls. We identified 13 non-synonymous variants with nominal association in single variant association tests. In a meta-analysis, we did not find any novel variant with genome-wide significance for RA risk. Using a gene-based approach, we identified 17 genes with nominal burden signals. Among them, VSTM1 showed the greatest association with RA (P¿=¿7.80¿×¿10¿4). In the enrichment test using Korean GWAS, although the significant signal appeared to be driven by total genic variants, we found no evidence for enriched association of coding variants only with RA.ConclusionsWe were unable to identify rare coding variants with large effect to explain the missing heritability for RA in the current targeted resequencing study. Our study raises skepticism about exon sequencing of targeted genes for complex diseases like RA.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 5%
United States 1 5%
Unknown 18 90%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 20%
Researcher 4 20%
Other 3 15%
Student > Master 3 15%
Student > Bachelor 2 10%
Other 1 5%
Unknown 3 15%
Readers by discipline Count As %
Agricultural and Biological Sciences 6 30%
Biochemistry, Genetics and Molecular Biology 3 15%
Medicine and Dentistry 2 10%
Computer Science 1 5%
Psychology 1 5%
Other 1 5%
Unknown 6 30%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 01 October 2014.
All research outputs
#20,238,443
of 22,765,347 outputs
Outputs from Arthritis Research & Therapy
#2,742
of 2,972 outputs
Outputs of similar age
#211,217
of 252,706 outputs
Outputs of similar age from Arthritis Research & Therapy
#38
of 46 outputs
Altmetric has tracked 22,765,347 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,972 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.9. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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 252,706 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 46 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.