Protection against cardiovascular disease may be possible with an inherited variant in Old Order Amish

Researchers have reported that whole-exome sequencing and association analysis of nearly 7,000 Old Order Amish revealed a genetic variant that could confer protection against cardiovascular disease (CVD).

The findings could be used to help develop new therapeutic approaches to decreasing or stopping CVD. CVD is the leading cause of death and illness in the world. CVD is a risk factor independent of blood levels of low density lipoprotein cholesterol (LDL) and fibrinogen, blood clotting protein.

Although the variations in LDL-C as well as fibrinogen may be influenced in part by the presence of rare and frequent genetic variations, only a few gene variants have been proven to have a pleiotropic effect on more than one risk factor for CVD. Exome sequencing of an Old Order Amish population, May Montasser and colleagues discovered a missense variant in the protein that codes for the B4GALT1 gene that was associated with lower levels of CVD.

In a knock-in study involving mice as a model for CVD, the authors demonstrate that this variant resulted in 38% less blood LDL-C levels aswell as decreases of fibrinogen. According to Montasser et al.,targeted modulation of this protein could be an effective method to reduce CVD risk.

Journal reference:

Montasser M.E., and al. (2021). Genetic and functional evidence link a missense variant of B4GALT1 with lower levels of LDL and fibrinogen. Science.

Content Source:

Gemma Wilson

Gemma is a journalism graduate with keen interest in covering business news – specifically startups. She has as a keen eye for technologies and has predicted quite a few successful startups over the last couple of years.

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