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Variation in BMPR1B, TGFRB1 and BMPR2 and Control of Dizygotic Twinning

Published online by Cambridge University Press:  21 February 2012

Hien T. T. Luong
Affiliation:
Molecular and Genetic Epidemiology Laboratories, Queensland Institute of Medical Research, Brisbane, Australia.
Justin Chaplin
Affiliation:
Molecular and Genetic Epidemiology Laboratories, Queensland Institute of Medical Research, Brisbane, Australia.
Allan F. McRae
Affiliation:
Queensland Statistical Genetics, Queensland Institute of Medical Research, Brisbane, Australia.
Sarah E. Medland
Affiliation:
Neurogenetics Laboratory, Queensland Institute of Medical Research, Brisbane, Australia.
Gonneke Willemsen
Affiliation:
Queensland Statistical Genetics, Queensland Institute of Medical Research, Brisbane, Australia.
Dale R. Nyholt
Affiliation:
Neurogenetics Laboratory, Queensland Institute of Medical Research, Brisbane, Australia.
Anjali K. Henders
Affiliation:
Molecular and Genetic Epidemiology Laboratories, Queensland Institute of Medical Research, Brisbane, Australia.
Chantal Hoekstra
Affiliation:
Department of Biological Psychology, VU University, Amsterdam, The Netherlands.
David L. Duffy
Affiliation:
Molecular and Genetic Epidemiology Laboratories, Queensland Institute of Medical Research, Brisbane, Australia.
Nicholas G. Martin
Affiliation:
Molecular and Genetic Epidemiology Laboratories, Queensland Institute of Medical Research, Brisbane, Australia.
Dorret I. Boomsma
Affiliation:
Department of Biological Psychology, VU University, Amsterdam, The Netherlands.
Grant W. Montgomery
Affiliation:
Molecular and Genetic Epidemiology Laboratories, Queensland Institute of Medical Research, Brisbane, Australia.
Jodie N. Painter*
Affiliation:
Molecular and Genetic Epidemiology Laboratories, Queensland Institute of Medical Research, Brisbane, Australia. jodie.painter@qimr.edu.au
*
*ADDRESS FOR CORRESPONDENCE: Jodie Painter, Queensland Institute of Medical Research, Locked Bag 2000, Herston, Queensland, 4029, Australia.

Abstract

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Genes in the TGF9 signaling pathway play important roles in the regulation of ovarian follicle growth and ovulation rate. Mutations in three genes in this pathway, growth differentiation factor 9 (GDF9), bone morphogenetic protein 15 (BMP15) and the bone morphogenetic protein receptor B 1 (BMPRB1), influence dizygotic (DZ) twinning rates in sheep. To date, only variants in GDF9 and BMP15, but not their receptors transforming growth factor ß receptor 1 (TGFBR1), bone morphogenetic protein receptor 2 (BMPR2) and BMPR1B, have been investigated with respect to their roles in human DZ twinning. We screened for rare and novel variants in TGFBR1, BMPR2 and BMPR1B in mothers of dizygotic twins (MODZT) from twin-dense families, and assessed association between genotyped and imputed variants and DZ twinning in another large sample of MODZT. Three novel variants were found: a deep intronic variant in BMPR2, and one intronic and one non-synonymous exonic variant in BMPRB1 which would result in the replacement of glutamine by glutamic acid at amino acid position 294 (p.Gln294Glu). None of these variants were predicted to have major impacts on gene function. However, the p.Gln294Glu variant changes the same amino acid as a sheep BMPR1B functional variant and may have functional consequences. Six BMPR1B variants were marginally associated with DZ twinning in the larger case-control sample, but these were no longer significant once multiple testing was taken into account. Our results suggest that variation in the TGF9 signaling pathway type II receptors has limited effects on DZ twinning rates in humans.

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Copyright © Cambridge University Press 2011
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