Evidence map›Paper›PMID 31102501›Full record

ArticleBirth defects research2019

The role of genetic variation in DGKK on moderate and severe hypospadias.

Melissa A Richard, Pagna Sok, Stephen Canon, Austin L Brown, Erin C Peckham-Gregory, Wendy N Nembhard, Suzan L Carmichael, Erik A Ehli, Noah A Kallsen, Shanna A Peyton and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Birth defects research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

4 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. 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

17 authors.

Melissa A RichardDepartment of Pediatrics, Baylor College of Medicine, Houston, Texas.ORCID 0000-0003-0129-9860
Pagna SokDepartment of Pediatrics, Baylor College of Medicine, Houston, Texas.
Stephen CanonArkansas Children's Hospital, Little Rock, Arkansas.
Austin L BrownDepartment of Pediatrics, Baylor College of Medicine, Houston, Texas.
Erin C Peckham-GregoryDepartment of Pediatrics, Baylor College of Medicine, Houston, Texas.
Wendy N NembhardDepartment of Epidemiology, Fay W. Boozman College of Public Health, University of Arkansas for Medical Sciences and Arkansas Children's Research Institute, Little Rock, Arkansas.ORCID 0000-0002-8318-4049
Suzan L CarmichaelDepartment of Pediatrics, Stanford University School of Medicine, California.
Erik A EhliAvera Institute for Human Genetics, Sioux Falls, South Dakota.
Noah A KallsenAvera Institute for Human Genetics, Sioux Falls, South Dakota.
Shanna A PeytonAvera Institute for Human Genetics, Sioux Falls, South Dakota.
Gareth E DaviesAvera Institute for Human Genetics, Sioux Falls, South Dakota.
Ashay PatelArkansas Children's Hospital, Little Rock, Arkansas.
Ismael ZamilpaArkansas Children's Hospital, Little Rock, Arkansas.
Richard A WyattSchool of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Charlotte A HobbsDivision of Birth Defects Research, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Arkansas Children's Research Institute, Little Rock, Arkansas.
Michael E ScheurerDepartment of Pediatrics, Baylor College of Medicine, Houston, Texas.
Philip J LupoDepartment of Pediatrics, Baylor College of Medicine, Houston, Texas.ORCID 0000-0003-0978-5863

Funding

NCBDD CDC HHS U01 DD001226NCBDD CDC HHS U01 DD001285
6 · The paper itself

Abstract

backgroundRecent genome-wide association studies of hypospadias have implicated the role of genetic variants in or near the diacylglycerol kinase kappa (DGKK) gene. However, these variants are largely identified among samples of mild and moderate hypospadias cases. Therefore, we evaluated previously identified DGKK variants among second- and third-degree hypospadias cases and controls recruited in Arkansas, a state characterized by a high birth prevalence of hypospadias.

methodsSecond- and third-degree hypospadias non-Hispanic white cases (n = 36 and n = 9, respectively) and controls (n = 45) were recruited at Arkansas Children's Hospital. Preputial tissue was collected on cases and controls between 2013 and 2017. Cases and controls were genotyped using the Illumina Infinium Global Screening Array. We used logistic regression models to assess the association of genotyped and imputed genetic variants mapped to the DGKK region with second- and third-degree hypospadias.

resultsAll families self-reported as non-Hispanic white and genetic principal component analyses did not demonstrate evidence of population stratification. Five DGKK variants previously reported as associated with hypospadias were identified in the genotype data. None of the variants were associated with second- or third-degree hypospadias (range of odds ratios = 0.7-0.9, all p > .05).

conclusionsIn our analyses, genetic variation in DGKK does not play a role in the development of moderate and severe hypospadias. Our findings provide support to the etiologic heterogeneity of hypospadias by all classifications of severity.

Indexed as

AdultArkansasCase-Control StudiesDiacylglycerol KinaseFemaleGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyGenotypeHumansHypospadiasInfantMaleOdds RatioPolymorphism, Single NucleotideRisk FactorsDGKK protein, humanDiacylglycerol Kinaseepidemiologygeneticshypospadiasurology

Identifiers

PMID31102501
PMCPMC8084115

What OpenQuestion holds

Textmetadata
LicenceTDM
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.