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Title: Common variants in DGKK are strongly associated with risk of hypospadias
Author(s): Zanden, L.F. van der ; Rooij, I.A. van ; Feitz, W.F.J. ; Knight, J.; Donders, A.R.T. ; Renkema, K.Y. ; Bongers, M.H.F. ; Vermeulen, S. ; Kiemeney, L.A.L.M. ; Veltman, J.A. ; Arias Vasquez, A. ; Zhang, X.; Markljung, E.; Qiao, L.; Baskin, L.S.; Nordenskjold, A.; Roeleveld, N. ; Franke, B. ; Knoers, N.V.A.M.
Publication year: 2011
Source: Nature Genetics, vol. 43, iss. 1, (2011), pp. 48-50
ISSN: 1061-4036
DOI: https://doi.org/10.1038/ng.721
Publication type: Article / Letter to editor

Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/95737   http://hdl.handle.net/2066/95737

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Subject: DCN 1: Perception and Action
DCN 2: Functional Neurogenomics
IGMD 3: Genomic disorders and inherited multi-system disorders
IGMD 3: Genomic disorders and inherited multi-system disorders DCN 2: Functional Neurogenomics
IGMD 9: Renal disorder
NCEBP 12: Human Reproducion IGMD 3: Genomic disorders and inherited multi-system disorders
NCEBP 12: Human Reproduction IGMD 9: Renal disorder
NCEBP 1: Molecular epidemiology
NCEBP 1: Molecular epidemiology ONCOL 5: Aetiology, screening and detection
NCEBP 2: Evaluation of complex medical interventions
NCMLS 6: Genetics and epigenetic pathways of disease
NCMLS 6: Genetics and epigenetic pathways of disease IGMD 3: Genomic disorders and inherited multi-system disorders
NCMLS 6: Genetics and epigenetic pathways of disease IGMD 9: Renal disorder
Organization: Health Evidence
Urology
Human Genetics
Cognitive Neuroscience
Psychiatry
Former Organization: Epidemiology, Biostatistics & HTA
Journal title:
Nature Genetics
Volume: vol. 43
Issue: iss. 1
Page start: p. 48
Page end: p. 50
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 kappa, produced compelling evidence for association with hypospadias in the discovery sample (allele-specific odds ratio (OR) = 2.5, P = 2.5 x 10(1)(1) and OR = 2.3, P = 2.9 x 10, respectively) and in the Dutch (OR = 3.9, P = 2.4 x 10 and OR = 3.8, P = 3.4 x 10) and Swedish (OR = 2.5, P = 2.6 x 10 and OR = 2.2, P = 2.7 x 10) 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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