|
|
| PMID |
|
|
| 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 |
| 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. 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 |
| 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. 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. 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 |
| 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. 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. 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. We conclude that neither rare nor common BMP15 variants play a significant role in the variation in human DZ twinning. |
|
| DATE PUBLISHED |
|
|
| HISTORY |
|
| PUBSTATUS |
PUBSTATUSDATE |
| 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 |
|
|
|
