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Common variants in DGKK are strongly associated with risk of hypospadias

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Common variants in DGKK are strongly associated with risk of hypospadias. / van der Zanden, Loes F. M.; van Rooij, Iris A. L. M.; Feitz, Wout F. J. et al.
In: Nature Genetics, Vol. 43, No. 1, 01.2011, p. 48-50.

Research output: Contribution to Journal/Magazine › Letter › peer-review

Harvard

van der Zanden, LFM, van Rooij, IALM, Feitz, WFJ, Knight, J, Donders, ART, Renkema, KY, Bongers, EMHF, Vermeulen, SHHM, Kiemeney, LALM, Veltman, JA, Arias-Vásquez, A, Zhang, X, Markljung, E, Qiao, L, Baskin, LS, Nordenskjöld, A, Roeleveld, N, Franke, B & Knoers, NVAM 2011, 'Common variants in DGKK are strongly associated with risk of hypospadias', Nature Genetics, vol. 43, no. 1, pp. 48-50. https://doi.org/10.1038/ng.721

APA

van der Zanden, L. F. M., van Rooij, I. A. L. M., Feitz, W. F. J., Knight, J., Donders, A. R. T., Renkema, K. Y., Bongers, E. M. H. F., Vermeulen, S. H. H. M., Kiemeney, L. A. L. M., Veltman, J. A., Arias-Vásquez, A., Zhang, X., Markljung, E., Qiao, L., Baskin, L. S., Nordenskjöld, A., Roeleveld, N., Franke, B., & Knoers, N. V. A. M. (2011). Common variants in DGKK are strongly associated with risk of hypospadias. Nature Genetics, 43(1), 48-50. https://doi.org/10.1038/ng.721

Vancouver

van der Zanden LFM, van Rooij IALM, Feitz WFJ, Knight J, Donders ART, Renkema KY et al. Common variants in DGKK are strongly associated with risk of hypospadias. Nature Genetics. 2011 Jan;43(1):48-50. Epub 2010 Nov 28. doi: 10.1038/ng.721

Author

van der Zanden, Loes F. M. ; van Rooij, Iris A. L. M. ; Feitz, Wout F. J. et al. / Common variants in DGKK are strongly associated with risk of hypospadias. In: Nature Genetics. 2011 ; Vol. 43, No. 1. pp. 48-50.

Bibtex

@article{b13e8f2f63a146d5b59815f862be6d41,
title = "Common variants in DGKK are strongly associated with risk of hypospadias",
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 κ, produced compelling evidence for association with hypospadias in the discovery sample (allele-specific odds ratio (OR) = 2.5, P = 2.5 × 10⁻¹¹ and OR = 2.3, P = 2.9 × 10⁻⁹, respectively) and in the Dutch (OR = 3.9, P = 2.4 × 10⁻⁵ and OR = 3.8, P = 3.4 × 10⁻⁵) and Swedish (OR = 2.5, P = 2.6 × 10⁻⁸ and OR = 2.2, P = 2.7 × 10⁻⁶) 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.",
keywords = "Diacylglycerol Kinase, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Genotype, Humans, Hypospadias, Male, Odds Ratio, Polymorphism, Single Nucleotide, Risk Factors",
author = "{van der Zanden}, {Loes F. M.} and {van Rooij}, {Iris A. L. M.} and Feitz, {Wout F. J.} and Jo Knight and Donders, {A. Rogier T.} and Renkema, {Kirsten Y.} and Bongers, {Ernie M. H. F.} and Vermeulen, {Sita H. H. M.} and Kiemeney, {Lambertus A. L. M.} and Veltman, {Joris A.} and Alejandro Arias-V{\'a}squez and Xufeng Zhang and Ellen Markljung and Liang Qiao and Baskin, {Laurence S.} and Agneta Nordenskj{\"o}ld and Nel Roeleveld and Barbara Franke and Knoers, {Nine V. A. M.}",
year = "2011",
month = jan,
doi = "10.1038/ng.721",
language = "English",
volume = "43",
pages = "48--50",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "1",

}

RIS

TY - JOUR

T1 - Common variants in DGKK are strongly associated with risk of hypospadias

AU - van der Zanden, Loes F. M.

AU - van Rooij, Iris A. L. M.

AU - Feitz, Wout F. J.

AU - Knight, Jo

AU - Donders, A. Rogier T.

AU - Renkema, Kirsten Y.

AU - Bongers, Ernie M. H. F.

AU - Vermeulen, Sita H. H. M.

AU - Kiemeney, Lambertus A. L. M.

AU - Veltman, Joris A.

AU - Arias-Vásquez, Alejandro

AU - Zhang, Xufeng

AU - Markljung, Ellen

AU - Qiao, Liang

AU - Baskin, Laurence S.

AU - Nordenskjöld, Agneta

AU - Roeleveld, Nel

AU - Franke, Barbara

AU - Knoers, Nine V. A. M.

PY - 2011/1

Y1 - 2011/1

N2 - 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 κ, produced compelling evidence for association with hypospadias in the discovery sample (allele-specific odds ratio (OR) = 2.5, P = 2.5 × 10⁻¹¹ and OR = 2.3, P = 2.9 × 10⁻⁹, respectively) and in the Dutch (OR = 3.9, P = 2.4 × 10⁻⁵ and OR = 3.8, P = 3.4 × 10⁻⁵) and Swedish (OR = 2.5, P = 2.6 × 10⁻⁸ and OR = 2.2, P = 2.7 × 10⁻⁶) 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.

AB - 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 κ, produced compelling evidence for association with hypospadias in the discovery sample (allele-specific odds ratio (OR) = 2.5, P = 2.5 × 10⁻¹¹ and OR = 2.3, P = 2.9 × 10⁻⁹, respectively) and in the Dutch (OR = 3.9, P = 2.4 × 10⁻⁵ and OR = 3.8, P = 3.4 × 10⁻⁵) and Swedish (OR = 2.5, P = 2.6 × 10⁻⁸ and OR = 2.2, P = 2.7 × 10⁻⁶) 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.

KW - Diacylglycerol Kinase

KW - Genetic Predisposition to Disease

KW - Genetic Variation

KW - Genome-Wide Association Study

KW - Genotype

KW - Humans

KW - Hypospadias

KW - Male

KW - Odds Ratio

KW - Polymorphism, Single Nucleotide

KW - Risk Factors

U2 - 10.1038/ng.721

DO - 10.1038/ng.721

M3 - Letter

C2 - 21113153

VL - 43

SP - 48

EP - 50

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 1

ER -