ArticleNature genetics2011
Common variants in DGKK are strongly associated with risk of hypospadias.
Article in Nature genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 55 papers, 3 of them syntheses that pooled it.
What it found
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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.
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.
Who cites it
55 citing papers in PubMed, 3 syntheses or guidelines pooled it, 108 citations in OpenAlex.
- Unraveling the Androgen Receptor's Role in Hypospadias: A Systematic Review and Meta-Analysis.International journal of molecular sciences · 2026Pooled it
- The potential mechanisms underlying phthalate-induced hypospadias: a systematic review of rodent model studies.Frontiers in endocrinology · 2024Pooled it
- Prevalence and Clustering of Congenital Heart Defects Among Boys With Hypospadias.JAMA network open · 2022Pooled it
- X-chromosome association study reveals genetic susceptibility loci of hypospadias in southern Chinese population.World journal of urology · 2025Article
- Establishing a Structured Hypospadias Biobank Cohort for Integrated Research: Methodology, Comprehensive Database Integration, and Phenotyping.Diagnostics (Basel, Switzerland) · 2025Article
- Diacylglycerol Kinases and Its Role in Lipid Metabolism and Related Diseases.International journal of molecular sciences · 2024Review
- Whole-exome sequencing study of hypospadias.iScience · 2023Article
- A Genome-Wide Association Study into the Aetiology of Congenital Solitary Functioning Kidney.Biomedicines · 2022Article
- Identification of Small Regions of Overlap from Copy Number Variable Regions in Patients with Hypospadias.International journal of molecular sciences · 2022Article
- Genome-wide association study in patients with posterior urethral valves.Frontiers in pediatrics · 2022Article
- Article
- Increased hypospadias risk byAging · 2021Article
- Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.Journal of the American Society of Nephrology : JASN · 2021Article
- Beyond Lipid Signaling: Pleiotropic Effects of Diacylglycerol Kinases in Cellular Signaling.International journal of molecular sciences · 2020Review
- New frontiers on the molecular underpinnings of hypospadias according to severity.Arab journal of urology · 2020Review
- Article
- Etiology of Hypospadias: A Comparative Review of Genetic Factors and Developmental Processes Between Human and Animal Models.Research and reports in urology · 2020Review
- Genome-wide association study in Chinese cohort identifies one novel hypospadias risk associated locus at 12q13.13.BMC medical genomics · 2019Article
- Genome-wide association studies of structural birth defects: A review and commentary.Birth defects research · 2019Review
- The role of genetic variation in DGKK on moderate and severe hypospadias.Birth defects research · 2019Article
Corrections and comments
- Erratum issued
Authors and funding
19 authors at 5 institutions in 4 countries.
Funding
Abstract
Hypospadias is a common congenital malformation of the male external genitalia. We performed a genome-wide association study using pooled DNA from 436 individuals with hypospadias (cases) and 494 controls of European descent and selected the highest ranked SNPs for individual genotyping in the discovery sample, an additional Dutch sample of 133 cases and their parents, and a Swedish series of 266 cases and 402 controls. Individual genotyping of two SNPs (rs1934179 and rs7063116) in DGKK, encoding diacylglycerol kinase κ, produced compelling evidence for association with hypospadias in the discovery sample (allele-specific odds ratio (OR) = 2.5, P = 2.5 × 10⁻¹¹ and OR = 2.3, P = 2.9 × 10⁻⁹, respectively) and in the Dutch (OR = 3.9, P = 2.4 × 10⁻⁵ and OR = 3.8, P = 3.4 × 10⁻⁵) and Swedish (OR = 2.5, P = 2.6 × 10⁻⁸ and OR = 2.2, P = 2.7 × 10⁻⁶) replication samples. Expression studies showed expression of DGKK in preputial tissue of cases and controls, which was lower in carriers of the risk allele of rs1934179 (P = 0.047). We propose DGKK as a major risk gene for hypospadias.
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Registered trials
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.