| Title |
Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility
|
|---|---|
| Published in |
American Journal of Human Genetics, May 2016
|
| DOI | 10.1016/j.ajhg.2016.03.008 |
| Pubmed ID | |
| Authors |
Hamdi Mbarek, Stacy Steinberg, Dale R. Nyholt, Scott D. Gordon, Michael B. Miller, Allan F. McRae, Jouke Jan Hottenga, Felix R. Day, Gonneke Willemsen, Eco J. de Geus, Gareth E. Davies, Hilary C. Martin, Brenda W. Penninx, Rick Jansen, Kerrie McAloney, Jacqueline M. Vink, Jaakko Kaprio, Robert Plomin, Tim D. Spector, Patrik K. Magnusson, Bruno Reversade, R. Alan Harris, Kjersti Aagaard, Ragnar P. Kristjansson, Isleifur Olafsson, Gudmundur Ingi Eyjolfsson, Olof Sigurdardottir, William G. Iacono, Cornelis B. Lambalk, Grant W. Montgomery, Matt McGue, Ken K. Ong, John R.B. Perry, Nicholas G. Martin, Hreinn Stefánsson, Kari Stefánsson, Dorret I. Boomsma |
| Abstract |
Spontaneous dizygotic (DZ) twinning occurs in 1%-4% of women, with familial clustering and unknown physiological pathways and genetic origin. DZ twinning might index increased fertility and has distinct health implications for mother and child. We performed a GWAS in 1,980 mothers of spontaneous DZ twins and 12,953 control subjects. Findings were replicated in a large Icelandic cohort and tested for association across a broad range of fertility traits in women. Two SNPs were identified (rs11031006 near FSHB, p = 1.54 × 10(-9), and rs17293443 in SMAD3, p = 1.57 × 10(-8)) and replicated (p = 3 × 10(-3) and p = 1.44 × 10(-4), respectively). Based on ∼90,000 births in Iceland, the risk of a mother delivering twins increased by 18% for each copy of allele rs11031006-G and 9% for rs17293443-C. A higher polygenic risk score (PRS) for DZ twinning, calculated based on the results of the DZ twinning GWAS, was significantly associated with DZ twinning in Iceland (p = 0.001). A higher PRS was also associated with having children (p = 0.01), greater lifetime parity (p = 0.03), and earlier age at first child (p = 0.02). Allele rs11031006-G was associated with higher serum FSH levels, earlier age at menarche, earlier age at first child, higher lifetime parity, lower PCOS risk, and earlier age at menopause. Conversely, rs17293443-C was associated with later age at last child. We identified robust genetic risk variants for DZ twinning: one near FSHB and a second within SMAD3, the product of which plays an important role in gonadal responsiveness to FSH. These loci contribute to crucial aspects of reproductive capacity and health. |
Twitter Demographics
The data shown below were collected from the profiles of 68 tweeters who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 11 | 16% |
| United States | 7 | 10% |
| Australia | 6 | 9% |
| Netherlands | 5 | 7% |
| France | 2 | 3% |
| Germany | 2 | 3% |
| Qatar | 2 | 3% |
| Italy | 2 | 3% |
| Canada | 2 | 3% |
| Other | 4 | 6% |
| Unknown | 25 | 37% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 38 | 56% |
| Scientists | 28 | 41% |
| Science communicators (journalists, bloggers, editors) | 1 | 1% |
| Practitioners (doctors, other healthcare professionals) | 1 | 1% |
Mendeley readers
The data shown below were compiled from readership statistics for 180 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Finland | 1 | <1% |
| United States | 1 | <1% |
| Luxembourg | 1 | <1% |
| Unknown | 177 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 27 | 15% |
| Researcher | 25 | 14% |
| Student > Bachelor | 18 | 10% |
| Student > Master | 14 | 8% |
| Professor | 13 | 7% |
| Other | 42 | 23% |
| Unknown | 41 | 23% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 34 | 19% |
| Medicine and Dentistry | 31 | 17% |
| Biochemistry, Genetics and Molecular Biology | 24 | 13% |
| Psychology | 11 | 6% |
| Social Sciences | 7 | 4% |
| Other | 25 | 14% |
| Unknown | 48 | 27% |
Attention Score in Context
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All research outputs
#24,211
of 24,520,187 outputs
Outputs from American Journal of Human Genetics
#10
of 5,779 outputs
Outputs of similar age
#426
of 303,436 outputs
Outputs of similar age from American Journal of Human Genetics
#3
of 60 outputs
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