Evidence map›Paper›PMID 29706348›Full record

ArticleAmerican journal of human genetics2018

Missense Variants in HIF1A and LACC1 Contribute to Leprosy Risk in Han Chinese.

Dong Wang, Yu Fan, Mahadev Malhi, Rui Bi, Yong Wu, Min Xu, Xiu-Feng Yu, Heng Long, Yu-Ye Li, Deng-Feng Zhang and 1 more

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
4.0field-weighted citation impact, top 5% 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

28 citing papers in PubMed, 48 citations in OpenAlex.

  1. Trial
  2. Article
  3. The research progress of LACC1.Frontiers in immunology · 2025
    Review
  4. Review
  5. Review
  6. Article
  7. Functional genomics identify causal variant underlying the protective CTSH locus for Alzheimer's disease.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2023
    Article
  8. Article
  9. Article
  10. Article
  11. Offense and Defense in Granulomatous Inflammation Disease.Frontiers in cellular and infection microbiology · 2022
    Review
  12. Article
  13. Article
  14. Review
  15. Review
  16. Article
  17. Article
  18. Article
  19. Article
  20. 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

11 authors at 4 institutions in 2 countries.

Dong WangKey Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223, China; College of Fundamental Medicine, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610072, China.
Yu FanKey Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223, China; Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming 650223, China.
Mahadev MalhiKey Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223, China; Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan 650204, China.
Rui BiKey Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223, China; Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming 650223, China.
Yong WuKey Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223, China; Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan 650204, China.
Min XuKey Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223, China; Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan 650204, China.
Xiu-Feng YuWenshan Institute of Dermatology, Wenshan, Yunnan 663000, China.
Heng LongWenshan Institute of Dermatology, Wenshan, Yunnan 663000, China.
Yu-Ye LiDepartment of Dermatology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China.
Deng-Feng ZhangKey Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223, China; Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming 650223, China. Electronic address: zhangdengfeng@mail.kiz.ac.cn.
Yong-Gang YaoKey Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223, China; Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming 650223, China; Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan 650204, China; KIZ-CUHK Joint Laboratory of Bioresources and Molecular Research in Common Diseases, Kunming, Yunnan 650223, China. Electronic address: yaoyg@mail.kiz.ac.cn.
Kunming Institute of Zoology · CNChinese Academy of Sciences · CNWenshan University · CNFirst Affiliated Hospital of Kunming Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genome-wide association studies (GWASs) and genome-wide linkage studies (GWLSs) have identified numerous risk genes affecting the susceptibility to leprosy. However, most of the reported GWAS hits are noncoding variants and account for only part of the estimated heritability for this disease. In order to identify additional risk genes and map the potentially functional variants within the GWAS loci, we performed a three-stage study combining whole-exome sequencing (WES; discovery stage), targeted next-generation sequencing (NGS; screening stage), and refined validation of risk missense variants in 1,433 individuals with leprosy and 1,625 healthy control individuals from Yunnan Province, Southwest China. We identified and validated a rare damaging variant, rs142179458 (c.1045G>A [p.Asp349Asn]) in HIF1A, as contributing to leprosy risk (p = 4.95 × 10

Indexed as

Genetic Predisposition to DiseaseAdolescentAdultAgedAged, 80 and overAllelesAsian PeopleChildCohort StudiesEthnicityExome SequencingFemaleHigh-Throughput Nucleotide SequencingHumansHypoxia-Inducible Factor 1, alpha SubunitIntracellular Signaling Peptides and ProteinsHIF1A protein, humanHypoxia-Inducible Factor 1, alpha SubunitIntracellular Signaling Peptides and ProteinsLACC1 protein, humanMHC class II transactivator proteinNuclear ProteinsProteinsRNA, MessengerTrans-ActivatorsCIITAHIF1ALACC1leprosymeta-analysisrs3764147targeted next-generation sequencingwhole-exome sequencing

Identifiers

PMID29706348
PMCPMC5986702
OpenAlexW2799290701

What OpenQuestion holds

Textmetadata
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.