Evidence map›Paper›PMID 29921221›Full record

ArticleBMC genomics2018

Identification of five novel genetic loci related to facial morphology by genome-wide association studies.

Seongwon Cha, Ji Eun Lim, Ah Yeon Park, Jun-Hyeong Do, Si Woo Lee, Chol Shin, Nam Han Cho, Ji-One Kang, Jeong Min Nam, Jong-Sik Kim and 4 more

Open access · goldAbstract read
In one paragraph

Article in BMC genomics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed, 3 pooled it
4.1field-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

42 citing papers in PubMed, 3 syntheses or guidelines pooled it, 84 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. Article
  6. Review
  7. De Novo Reconstruction of 3D Human Facial Images from DNA Sequence.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025
    Article
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  17. Effect of genetic variants inForensic sciences research · 2023
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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

14 authors at 5 institutions in 1 country.

Seongwon ChaFuture Medicine Division, Korea Institute of Oriental Medicine, Daejeon, 34054, Republic of Korea.
Ji Eun LimDepartment of Biochemistry and Molecular Biology, School of Medicine, Kyung Hee University, Seoul, 02447, Republic of Korea.
Ah Yeon ParkMibyeong Research Center, Korea Institute of Oriental Medicine, Daejeon, 34054, Republic of Korea.
Jun-Hyeong DoFuture Medicine Division, Korea Institute of Oriental Medicine, Daejeon, 34054, Republic of Korea.
Si Woo LeeFuture Medicine Division, Korea Institute of Oriental Medicine, Daejeon, 34054, Republic of Korea.
Chol ShinDivision of Pulmonary Sleep and Critical Care Medicine, Department of Internal Medicine, Korea University Ansan Hospital and Institute of Human Genomic Study, Korea University Ansan Hospital, Ansan, 15355, Republic of Korea.
Nam Han ChoDepartment of Preventive Medicine, Ajou University School of Medicine, Suwon, 16499, Republic of Korea.
Ji-One KangDepartment of Biochemistry and Molecular Biology, School of Medicine, Kyung Hee University, Seoul, 02447, Republic of Korea.
Jeong Min NamDepartment of Biochemistry and Molecular Biology, School of Medicine, Kyung Hee University, Seoul, 02447, Republic of Korea.
Jong-Sik KimDNA Forensic Division, Supreme Prosecutors' Office, Seoul, 06590, Republic of Korea.
Kwang-Man WooDNA Forensic Division, Supreme Prosecutors' Office, Seoul, 06590, Republic of Korea.
Seung-Hwan LeeDNA Forensic Division, Supreme Prosecutors' Office, Seoul, 06590, Republic of Korea.
Jong Yeol KimKM Fundamental Research Division, Korea Institute of Oriental Medicine, Daejeon, 34054, Republic of Korea.
Bermseok OhDepartment of Biochemistry and Molecular Biology, School of Medicine, Kyung Hee University, Seoul, 02447, Republic of Korea. ohbs@khu.ac.kr.
Korea Institute of Oriental Medicine · KRKyung Hee University · KRSupreme Prosecutors Office of the Republic of Korea · KRAjou University · KRKorea University · KR

Funding

Ministry of Science, ICT and Future Planning 2006-2005173Ministry of Science, ICT and Future Planning 2006-2005175Supreme Prosecutors' Office Forensic Science Research Project 2014the research program of Korea Institute of Oriental Medicine K18092
6 · The paper itself

Abstract

backgroundFace morphology is strongly determined by genetic factors. However, only a small number of genes related to face morphology have been identified to date. Here, we performed a two-stage genome-wide association study (GWAS) of 85 face morphological traits in 7569 Koreans (5643 in the discovery set and 1926 in the replication set).

resultsIn this study, we analyzed 85 facial traits, including facial angles. After discovery GWAS, 128 single nucleotide polymorphisms (SNPs) showing an association of P < 5 × 10

conclusionsWe identified five novel face morphology loci that were associated with facial frontal contour, nose shape, and eye shape. Our findings provide useful genetic information for the determination of face morphology.

Indexed as

AgedFemaleGene FrequencyGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHomeodomain ProteinsHumansMaleMiddle AgedPhenotypePolymorphism, Single NucleotideSOX9 Transcription FactorHomeodomain ProteinsHOXD1 protein, humanSOX9 protein, humanSOX9 Transcription FactorDHX35Face morphologyGWASHOXD1-MTX2KoreanOSR1-WDR35SOX9WDR27

Identifiers

PMID29921221
PMCPMC6008943
OpenAlexW2809490239

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.