703 GENOME WIDE ASSOCIATION STUDY IDENTIFIES NOVEL GENES FOR ERECTILE DYSFUNCTION RISK USING THE EPIDEMIOLOGY OF DIABETES INTERVENTIONS AND COMPLICATIONS (EDIC) DATABASE
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Résumé
You have accessJournal of UrologySexual Function/Dysfunction/Andrology: Basic Research I1 Apr 2010703 GENOME WIDE ASSOCIATION STUDY IDENTIFIES NOVEL GENES FOR ERECTILE DYSFUNCTION RISK USING THE EPIDEMIOLOGY OF DIABETES INTERVENTIONS AND COMPLICATIONS (EDIC) DATABASE James Hotaling, Daryl Waggott, Andrew Paterson, Jack Goldberg, John Lachin, Patricia Cleary, and Hunter Wessells James HotalingJames Hotaling Seattle, WA More articles by this author , Daryl WaggottDaryl Waggott Toronto, Canada More articles by this author , Andrew PatersonAndrew Paterson Toronto, Canada More articles by this author , Jack GoldbergJack Goldberg Seattle, WA More articles by this author , John LachinJohn Lachin Rockville, MD More articles by this author , Patricia ClearyPatricia Cleary Rockville, MD More articles by this author , and Hunter WessellsHunter Wessells Seattle, WA More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2010.02.1144AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES Twin studies have demonstrated that there is a genetic component to erectile dysfunction (ED) that is independent of genetic influences from many other known ED risk factors. In our studies of type 1 diabetes associated ED, unexplained variation in ED risk suggests a genetic influence. Using data from an ancillary urological complications study (UroEDIC), we performed a genome wide association study (GWAS) for genetic predictors of diabetes associated ED. METHODS An Illumina Human1M BeadChip was used for genotyping. Keeping SNPs with minor allele frequency > 1%, call rate >95% and Hardy Weinberg Equilibrium p > 1x10-8,we genotyped 867,125 single nucleotide polymorphisms (SNPs) in 528 white type 1 diabetic men (125 with ED) from the Diabetes Control and Complications Trial (DCCT) and EDIC observational follow up study. ED was defined as a binary outcome from a validated single item of the International Index of Erectile Function. Analyses were performed in PLINK with univariate and multivariate models controlling for age, HbA1c (both initial and mean), diabetes duration and treatment arm. QQ plots, PP plots and Manhattan plots were generated for all models. RESULTS Two SNPs located on chromosome 3 in one genomic loci were associated with ED with p < 1x 10-7. rs9810233 had a p-value of 7 x 10-7 and rs1920201 had a p-value of 9 x10-7 (Table One) Both of these SNPs were < 1Mb from the ALCAM (activated leukocyte cell adhesion molecule) gene. These findings were observed both in univariate and multivariate analysis (Table 1) Table 1. Results of Multivariate Analysis for Two Top SNPs SNP Minor Allele Frequency OR SE 95% CI rs9810233 0.270 2.32 0.168 1.67 - 3.22 rs1920101 0.245 1.18 0.176 0.838 – 1.67 CONCLUSIONS Two SNPs, rs9810233 and rs1920101, mapped to one locus on chromosome 3, and are both highly associated with ED. Although these values fail to meet the standard GWAS significance criteria of p < 5 x 10-8, this study represents the first GWAS to investigate the genetics of ED. This work serves to highlight the importance of further collaborative work to generate larger sample sizes for the study of urologic phenotypes and replication of these preliminary results. Our most significant results were for ALCAM, which could potentially represent a novel gene in the pathogenesis of diabetes associated ED. © 2010 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetailsCited byLopushnyan N and Chitaley K (2012) Genetics of Erectile DysfunctionJournal of Urology, VOL. 188, NO. 5, (1676-1683), Online publication date: 1-Nov-2012. Volume 183Issue 4SApril 2010Page: e274-e275 Advertisement Copyright & Permissions© 2010 by American Urological Association Education and Research, Inc.MetricsAuthor Information James Hotaling Seattle, WA More articles by this author Daryl Waggott Toronto, Canada More articles by this author Andrew Paterson Toronto, Canada More articles by this author Jack Goldberg Seattle, WA More articles by this author John Lachin Rockville, MD More articles by this author Patricia Cleary Rockville, MD More articles by this author Hunter Wessells Seattle, WA More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,004 | 0,006 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».