Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning

Zhao, Zhen Zhen, Painter, Jodie N., Palmer, James S., Webb, Penelope M., Hayward, Nicholas K., Whiteman, David C., Boomsma, Dorret I., Martin, Nicholas G., Duffy, David L. and Montgomery, Grant W. (2008) Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning. Human Reproduction, 23 10: 2372-2379. doi:10.1093/humrep/den268


Author Zhao, Zhen Zhen
Painter, Jodie N.
Palmer, James S.
Webb, Penelope M.
Hayward, Nicholas K.
Whiteman, David C.
Boomsma, Dorret I.
Martin, Nicholas G.
Duffy, David L.
Montgomery, Grant W.
Title Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning
Journal name Human Reproduction   Check publisher's open access policy
ISSN 0268-1161
1460-2350
Publication date 2008-10
Year available 2008
Sub-type Article (original research)
DOI 10.1093/humrep/den268
Volume 23
Issue 10
Start page 2372
End page 2379
Total pages 8
Editor J. Boulin
Place of publication Oxford, U.K.
Publisher Oxford University Press
Collection year 2009
Language eng
Subject C1
970111 Expanding Knowledge in the Medical and Health Sciences
110311 Medical Genetics (excl. Cancer Genetics)
Formatted abstract
Background
Spontaneous dizygotic (DZ) twinning in humans is under genetic control. In sheep, heterozygous loss of function mutations in bone morphogenetic protein 15 (BMP15) increase ovulation and hence twinning rates.

Methods
To investigate the role of BMP15 in human twinning, we typed 14 common variants, 4 rare novel variants initially detected by sequencing 279 mothers of DZ twins (MODZT) and 17 variants previously associated with premature ovarian failure (POF) in 933 DZ twinning families. We also typed five additional POF associated GDF9 variants.

Results
There was some evidence for association between DZ twinning and a common intronic BMP15 variant (rs3897937), but this was not significant after correction for multiple testing. Three of the four novel variants (p.Pro174Ser, p.Ala311Thr and p.Arg392Thr) occurred in 1–5 MODZT but were not detected in 1512 controls. We also detected three POF associated mutations in both BMP15 and GDF9 at low frequencies in MODZT and controls.

Conclusions
We conclude that neither rare nor common BMP15 variants play a significant role in the variation in human DZ twinning.
Copyright The Author 2008
Keyword Dizygotic twinning
BMP15
Variation (Genetics)
Genetic association
Primary ovarian failure
Q-Index Code C1
Q-Index Status Confirmed Code

 
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Created: Wed, 15 Apr 2009, 10:36:42 EST by Amanda Jones on behalf of Medicine - Royal Brisbane and Women's Hospital