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Genetic variation linked to infertility in women, claims study

31 May 2011

By Dr Caroline Hirst

Appeared in BioNews 609

Researchers from Johns Hopkins University, USA, have found a link between female infertility and genetic variation in a gene regulating cholesterol uptake.

The study was carried out on 274 women undergoing IVF between November 2007 and March 2010. Nine women in the study were found to carry a specific variation in the scavenger receptor class B type 1 gene (SCARB1). All nine of these women failed to become pregnant following IVF treatment, suggesting a 'significant association' between this genetic variant and infertility.

The SCARB1 gene is involved in the regulation of cholesterol uptake. It also appears to affect the levels of progesterone - a hormone needed for women to become pregnant and to support the growth of a fetus. Dr Annabelle Rodriguez, associate professor of medicine and study leader, previously reported that mice deficient in SCARB1 were infertile and had 50 percent lower levels of progesterone in their blood.

In this recent study, women carrying the SCARB1 variant were also found to have lower levels of progesterone than the other women in the study. Despite receiving progesterone supplements, these women were unable to maintain a viable pregnancy, for reasons yet to be understood.

'Right now, the benefit of this research is in knowing that there might be a genetic reason for why some women have difficulty getting pregnant. In the future, we hope this knowledge can be translated into a cure for this type of infertility', said Dr Rodriguez.

The research is published in the journal Human Reproduction.

Human Reproduction | 30 April 2011
International Federation of Gynecology and Obstetrics | 18 May 2011
Medical News Today | 16 May 2011
Toronto Sun | 16 May 2011


04 October 2010 - by Owen Clark 
A study has shown that mutations in the NR5A1 gene may be responsible for many unexplained cases of male infertility....
06 September 2010 - by Chris Chatterton 
Researchers from Newcastle University have announced that they have a better understanding of 'why older women are more likely to produce abnormal eggs, increasing the risk of infertility...
31 August 2010 - by Dr Marianne Kennedy 
Research carried out at the University of Pennsylvania School of Medicine suggests that the packaging of DNA affects the production of sperm and could explain some cases of male infertility....
08 September 2008 - by Dr Rachael Panizzo 
By Rachael Dobson: Researchers at the Salk Institute in La Jolla, California, US have found that the TORC1 gene in the brain controls both appetite and fertility. TORC1 acts as a 'master switch' that, when turned on, reduces food intake and allows pregnancy to occur, they report in the journal...
08 May 2005 - by BioNews 
Scientists from the US have discovered an 'infertility molecule' that affects whether embryos implant in the womb. Working on mice, the scientists have found that females lacking the molecule, known as a lysophosphatidic acid (LPA) receptor, have difficulty conceiving. The mice produced eggs normally, and these fertilised in the normal...

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