ArticleThe Journal of urology2012
Exploration of gene-environment interactions, maternal effects and parent of origin effects in the etiology of hypospadias.
Article in The Journal of urology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled 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.
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
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Genetic Susceptibility to Drug Teratogenicity: A Systematic Literature Review.Frontiers in genetics · 2021Pooled it
- Steroid 5α-reductases in the brain: From neurosteroidogenesis to therapeutic implications.Frontiers in neuroendocrinology · 2026Review
- Translational strategies to uncover the etiology of congenital anomalies of the kidney and urinary tract.Pediatric nephrology (Berlin, Germany) · 2025Review
- Anorectal malformations.Nature reviews. Disease primers · 2024Review
- Genetic and environmental factors driving congenital solitary functioning kidney.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2024Article
- 46,XY disorders of sex development: the use of NGS for prevalent variants.Human genetics · 2022Article
- Examining the developmental toxicity of piperonyl butoxide as a Sonic hedgehog pathway inhibitor.Chemosphere · 2021Review
- Gene-environment interactions: aligning birth defects research with complex etiology.Development (Cambridge, England) · 2020Review
- New frontiers on the molecular underpinnings of hypospadias according to severity.Arab journal of urology · 2020Review
- A Proteomics Signature of Mild Hypospadias: A Pilot Study.Frontiers in pediatrics · 2020Article
- Bioinformatic identification of key genes and molecular pathways in the spermatogenic process of cryptorchidism.Genes & diseases · 2019Article
- Interaction between CYP1A1/CYP17A1 polymorphisms and parental risk factors in the risk of hypospadias in a Chinese population.Scientific reports · 2019Article
- [Endocrine disruptors and hypospadias in Gran Canaria island (2012-2015)].Revista espanola de salud publica · 2018Article
- Joint effects of genetic variants and residential proximity to pesticide applications on hypospadias risk.Birth defects research. Part A, Clinical and molecular teratology · 2016Article
- Association between SNP12 in estrogen receptor α gene and hypospadias: a systematic review and meta-analysis.SpringerPlus · 2016Article
- Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.Human molecular genetics · 2015Article
- Possible fetal determinants of male infertility.Nature reviews. Endocrinology · 2014Review
- Genetics of human congenital urinary bladder disease.Pediatric nephrology (Berlin, Germany) · 2014Review
- Intrauterine growth restriction and hypospadias: is there a connection?International journal of pediatric endocrinology · 2014Article
- Genome-wide association study of maternal and inherited loci for conotruncal heart defects.PloS one · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
purposeHypospadias is a common congenital malformation of the male external genitalia. Association studies for single nucleotide polymorphisms in genes encoding steroid 5alpha-reductase, estrogen receptors 1 and 2, and activating transcription factor 3 have been equivocal. We examined whether nonreplication of findings for 4 single nucleotide polymorphisms in these genes could be due to interaction with environmental exposures. MATERIALS AND
methodsWe genotyped 712 Dutch hypospadias case-parent triads for the 4 single nucleotide polymorphisms, used questionnaire information to determine exposures and performed association tests using the log-linear approach. We studied gene-environment interactions for the 4 single nucleotide polymorphisms with exposure to estrogens, cytokines or cigarette smoke, multiple birth, being born small for gestational age, maternal hypertension or preeclampsia, high body mass index or primiparity. In addition, the presence of maternal genetic and parent of origin effects was tested.
resultsGene-environment interactions were identified for rs523349 in SRD5A2 with estrogen exposure and maternal hypertension or preeclampsia, as well as for rs11119982 in ATF3 with exposure to cytokines. Both single nucleotide polymorphisms seemed to influence hypospadias risk only in exposed cases. For rs6932902 in ESR1 only maternally derived alleles appeared to increase hypospadias risk in offspring.
conclusionsInteractions between genetic and environmental factors may help to explain nonreplication in genetic studies of hypospadias.
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What OpenQuestion holds
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.