Evidence map›Paper›PMID 29976160›Full record

ArticleBMC medical genetics2018

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

Zhiping Tan, Hui Zeng, Zhaofa Xu, Qi Tian, Xiaoyang Gao, Chuanman Zhou, Yu Zheng, Jian Wang, Guanghui Ling, Bing Wang and 2 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.2field-weighted citation impact, top 21% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Review
  3. The Genetics of Spondyloarthritis.Journal of personalized medicine · 2020
    Review
  4. Review
  5. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 1 institution in 1 country.

Zhiping TanClinical Center for Gene Diagnosis and Therapy, the Second Xiangya Hospital of Central South University, Changsha, 410011, China. zhipingtan@csu.edu.cn.
Hui ZengClinical Center for Gene Diagnosis and Therapy, the Second Xiangya Hospital of Central South University, Changsha, 410011, China.
Zhaofa XuCenter for Medical Genetics, School of Life Sciences, Central South University, Changsha, 410081, China.
Qi TianCenter for Medical Genetics, School of Life Sciences, Central South University, Changsha, 410081, China.
Xiaoyang GaoCenter for Medical Genetics, School of Life Sciences, Central South University, Changsha, 410081, China.
Chuanman ZhouCenter for Medical Genetics, School of Life Sciences, Central South University, Changsha, 410081, China.
Yu ZhengCenter for Medical Genetics, School of Life Sciences, Central South University, Changsha, 410081, China.
Jian WangClinical Center for Gene Diagnosis and Therapy, the Second Xiangya Hospital of Central South University, Changsha, 410011, China.
Guanghui LingDepartment of Rheumatology, the Second Xiangya Hospital of Cenral South University, Changsha, China.
Bing WangDepartment of Spine Surgery, the Second Xiangya Hospital Central South University, Changsha, 410011, Hunan, China.
Yifeng YangClinical Center for Gene Diagnosis and Therapy, the Second Xiangya Hospital of Central South University, Changsha, 410011, China.
Long MaCenter for Medical Genetics, School of Life Sciences, Central South University, Changsha, 410081, China. malong@sklmg.edu.cn.ORCID 0000-0002-3925-9154
Central South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAnkylosing 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.

methodsWe 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.

resultsWe 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.

conclusionsTogether these results suggest that ANKDD1B variants might be associated with AS and genetic analyses of more AS patients are warranted to verify this association.

Indexed as

AdolescentAdultAmino AcidsAminopeptidasesAsian PeopleCase-Control StudiesChild, PreschoolCohort StudiesFemaleGenetic LinkageGenetic Predisposition to DiseaseHaplotypesHumansIntracellular Signaling Peptides and ProteinsMaleMinor Histocompatibility AntigensAmino AcidsAminopeptidasesIntracellular Signaling Peptides and ProteinsMinor Histocompatibility AntigensReceptors, InterleukinANKDD1BAnkylosing spondylitisAnkyrin repeatHLA-B*27Pedigree

Identifiers

PMID29976160
PMCPMC6034262
OpenAlexW2875701027

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.