Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
18614612
TITLE
Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning.
ABSTRACT
BACKGROUND NlmCategory: 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 NlmCategory: 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 NlmCategory: 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 NlmCategory: CONCLUSIONS
We conclude that neither rare nor common BMP15 variants play a significant role in the variation in human DZ twinning.
DATE PUBLISHED
2008 Oct
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2008/07/09
pubmed 2008/07/11 09:00
medline 2009/02/26 09:00
entrez 2008/07/11 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Zhao ZZ Zhao Zhen Zhen ZZ Molecular Epidemiology, Queensland Institute of Medical Research, Royal Brisbane Hospital, Brisbane, QLD, Australia.
Painter JN Painter Jodie N JN
Palmer JS Palmer James S JS
Webb PM Webb Penelope M PM
Hayward NK Hayward Nicholas K NK
Whiteman DC Whiteman David C DC
Boomsma DI Boomsma Dorret I DI
Martin NG Martin Nicholas G NG
Duffy DL Duffy David L DL
Montgomery GW Montgomery Grant W GW
INVESTIGATORS
JOURNAL
VOLUME: 23
ISSUE: 10
TITLE: Human reproduction (Oxford, England)
ISOABBREVIATION: Hum. Reprod.
YEAR: 2008
MONTH: Oct
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1460-2350
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Hum Reprod
COUNTRY: England
ISSNLINKING: 0268-1161
NLMUNIQUEID: 8701199
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
HD042157 NICHD NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Alleles
Bone Morphogenetic Protein 15 genetics
Chromatography, High Pressure Liquid genetics
Female genetics
Gene Frequency genetics
Haplotypes genetics
Humans genetics
Male genetics
Polymorphism, Single Nucleotide genetics
Sequence Analysis, DNA genetics
Twins, Dizygotic genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 BMP15 protein, human
0 Bone Morphogenetic Protein 15
OTHER ID's
OTHERID SOURCE
PMC2721723 NLM