703 GENOME WIDE ASSOCIATION STUDY IDENTIFIES NOVEL GENES FOR ERECTILE DYSFUNCTION RISK USING THE EPIDEMIOLOGY OF DIABETES INTERVENTIONS AND COMPLICATIONS (EDIC) DATABASE
Bibliographic record
Abstract
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 ...
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.004 | 0.006 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".