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Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient

Overview of attention for article published in BMC Medical Genetics, July 2018
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (66th percentile)

Mentioned by

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5 tweeters
googleplus
1 Google+ user

Citations

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5 Dimensions

Readers on

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16 Mendeley
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Title
Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient
Published in
BMC Medical Genetics, July 2018
DOI 10.1186/s12881-018-0622-9
Pubmed ID
Authors

Zhiping Tan, Hui Zeng, Zhaofa Xu, Qi Tian, Xiaoyang Gao, Chuanman Zhou, Yu Zheng, Jian Wang, Guanghui Ling, Bing Wang, Yifeng Yang, Long Ma

Abstract

Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis. We used genome-wide linkage analysis and whole-exome sequencing in combination with variant co-segregation verification and haplotype analysis to study an AS pedigree and a sporadic AS patient. We identified a missense variant in the ankyrin repeat and death domain containing 1B gene ANKDD1B from a Han Chinese pedigree with dominantly inherited AS. This variant (p.L87V) co-segregates with all male patients of the pedigree. In females, the penetrance of the symptoms is incomplete with one identified patient out of 5 carriers, consistent with the reduced frequency of AS in females of the general population. We further identified a distinct missense variant affecting a conserved amino acid (p.R102L) of ANKDD1B in a male from 30 sporadic early onset AS patients. Both variants are absent in 500 normal controls. We determined the haplotypes of four major known AS risk loci, including HLA-B*27, 2p15, ERAP1 and IL23R, and found that only HLA-B*27 is strongly associated with patients in our cohort. Together these results suggest that ANKDD1B variants might be associated with AS and genetic analyses of more AS patients are warranted to verify this association.

Twitter Demographics

The data shown below were collected from the profiles of 5 tweeters 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 16 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 16 100%

Demographic breakdown

Readers by professional status Count As %
Professor > Associate Professor 3 19%
Researcher 3 19%
Student > Ph. D. Student 3 19%
Lecturer 1 6%
Student > Bachelor 1 6%
Other 1 6%
Unknown 4 25%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 3 19%
Agricultural and Biological Sciences 3 19%
Engineering 2 13%
Medicine and Dentistry 1 6%
Unknown 7 44%

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 18 August 2018.
All research outputs
#4,527,414
of 16,534,657 outputs
Outputs from BMC Medical Genetics
#126
of 999 outputs
Outputs of similar age
#93,917
of 279,963 outputs
Outputs of similar age from BMC Medical Genetics
#1
of 1 outputs
Altmetric has tracked 16,534,657 research outputs across all sources so far. This one has received more attention than most of these and is in the 72nd percentile.
So far Altmetric has tracked 999 research outputs from this source. They receive a mean Attention Score of 3.3. This one has done well, scoring higher than 85% 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 279,963 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 66% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them