| Titre : | Impact of Phenotype Definition on Genome-Wide Association Signals : Empirical Evaluation in Human Immunodeficiency Virus Type 1 Infection. (2011) |
| Auteurs : | Evangelos EVANGELOU ; Sara COLOMBO ; Jacques FELLAY ; David-B GOLDSTEIN ; LOANNIDIS (John-Pa) : USA. School of Medicine and Tufts Medical Center. Tufts University. Boston. MA. ; MARTINEZ-PICADO (Javier) : ESP. IrsiCaixa Foundation and Hospital Germans Trias i Pujol. Badalona. ; OBEL (Niels) : DNK. Department of Infectious Diseases. Copenhagen University Hospital. Rigshospitalet. Copenhagen. ; Amalio TELENTI ; Center for Human Genome Variation. Duke Institute for Genome Sciences and Policy. Duke University. Durham. NC. USA ; Department of Hygiene and Epidemiology. School of Medicine. University of Ioannina. Ioannina. GRC ; Institute of Microbiology. University Hospital Center. University of Lausanne. Lausanne. CHE |
| Type de document : | Article |
| Dans : | American journal of epidemiology (vol. 173, n° 11, 2011) |
| Pagination : | 1336-1342 |
| Langues: | Anglais |
| Mots-clés : | Infection ; Sida ; Définition ; Génome ; Association ; Evaluation ; Séropositivité ; Epidémiologie ; Prévalence ; Sérologie ; Virose ; VIH ; Rétrovirus ; Virus ; Immunopathologie |
| Résumé : | [BDSP. Notice produite par INIST-CNRS lR0xCF9I. Diffusion soumise à autorisation]. Discussion on improving the power of genome-wide association studies to identify candidate variants and genes is generally centered on issues of maximizing sample size ; less attention is given to the role of phenotype definition and ascertainment. The authors used genome-wide data from patients infected with human immunodeficiency virus type 1 (HIV-1) to assess whether differences in type of population (622 seroconverters vs. 636 seroprevalent subjects) or the number of measurements available for defining the phenotype resulted in differences in the effect sizes of associations between single nucleotide polymorphisms and the phenotype, HIV-1 viral load at set point. The effect estimate for the top 100 single nucleotide polymorphisms was 0.092 (95% confidence interval : 0.074,0.110) log10 viral load (log10 copies of HIV-1 per mL of blood) greater in seroconverters than in seroprevalent subjects. The difference was even larger when the authors focused on chromosome 6 variants (0.153 log10 viral load) or on variants that achieved genome-wide significance (0.232 log10 viral load). The estimates of the genetic effects tended to be slightly larger when more viral load measurements were available, particularly among seroconverters and for variants that achieved genome-wide significance. Differences in phenotype definition and ascertainment may affect the estimated magnitude of genetic effects and should be considered in optimizing power for discovering new associations. |
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