Featured Research

from universities, journals, and other organizations

'Rare' gene common in African descendants, may contribute to heart disease

Date:
November 25, 2013
Source:
Weill Cornell Medical College
Summary:
Researchers have found that a genetic variation that is linked to increased levels of triglycerides -- fats in the blood associated with disorders such as heart disease, type 2 diabetes, obesity and stroke -- is far more common than previously believed and disproportionally affects people of African ancestry. Investigators say their discovery reinforces the need to screen this population for high levels of triglycerides to stave off disease.

Researchers at Weill Cornell Medical College have found that a genetic variation that is linked to increased levels of triglycerides -- fats in the blood associated with disorders such as heart disease, type 2 diabetes, obesity and stroke -- is far more common than previously believed and disproportionally affects people of African ancestry. Investigators say their discovery, reported in the American Journal of Cardiology, reinforces the need to screen this population for high levels of triglycerides to stave off disease.

The finding offers a clue as to why Africans and people of African descent have an increased risk of cardiovascular disease and type 2 diabetes compared to many other populations, says the study's senior author, Dr. Ronald Crystal, chairman of genetic medicine at Weill Cornell. African Americans with the variant had, on average, 52 percent higher triglyceride levels compared with blacks in the study who did not have the variant.

"The prevalence of the ApoE mutation may put large numbers of Africans and African descendants worldwide at risk for a triglyceride -- linked disorder," Dr. Crystal says. "But we don't yet know the extent of that risk or its health consequences.

"Inheriting this genetic variant does not mean a person is going to get heart disease and other diseases. It increases their risk, and screening for fats in the blood -- both cholesterol and triglycerides -- as well as maintaining a healthy lifestyle is important," Dr. Crystal says. "There are many factors at work in these diseases. This may be one player."

The number of Africans and African descendants who may have this gene variant is significant, Dr. Crystal says. "Based on our findings, we estimate that there could be 1.7 million African Americans in the United States and 36 million sub-Saharan Africans worldwide with the variant, which increases risk of the lipid disorder and, to some unknown extent, the diseases associated with it," he says.

So Rare No One Paid Attention

The study began in Qatar, at Weill Cornell Medical College in Doha.

The gene variant the scientists studied is a single point mutation -- a replacement of one of DNA segment with another -- in the ApoE gene, which carries fats and other molecules through the blood.

Scientists have believed that more than 95 percent of the world's population has one of three common ApoE variants -- 2, 3, or 4. The rest have one of 38 rare ApoE mutations, among them the R145C variant studied in this research. In the three decades since the variant's discovery, only 32 instances of it have been reported in the scientific literature, Dr. Crystal says.

"This ApoE variant was believed to be so extremely rare that no one paid much attention to it," he says.

Weill Cornell researchers in Qatar decided to investigate the mutation in their work evaluating the genetics of Qatari natives -- people who have lived in the country for three generations or more. That population is made up of three genetic subpopulations: Arab, Persian, and sub-Saharan African. The researchers were able to look at the genomes of 228 Qatari participants.

To their surprise, investigators found that 17 percent of the African-derived genetic subgroup had the rare ApoE variant. None of the Arab or Persian participants had the mutation.

The team then expanded their study. They looked at participants in the worldwide 1000 Genomes Project (1000G), and found that while the R145C variant is rare to non-existent in populations that are not African or of African descent, it is common (occurring 5 to 12 percent of the time) among African-derived populations, especially those from sub-Sahara.

Weill Cornell Medical College researchers then looked for the variant in New York-area participants taking part in a study on smoking-related lung health. They found that R145C was rare (occurring 0.1 percent of the time) in the 1,012 Caucasians they studied, but common in the 1,266 African-American participants, 4 percent of whom carried the variant.

"This research is a good example of how studying a small population can give you insights that are very relevant to the rest of the world," Dr. Cyrstal says.


Story Source:

The above story is based on materials provided by Weill Cornell Medical College. Note: Materials may be edited for content and length.


Journal Reference:

  1. Maen D. Abou Ziki, Yael Strulovici-Barel, Neil R. Hackett, Juan L. Rodriguez-Flores, Jason G. Mezey, Jacqueline Salit, Sharon Radisch, Charleen Hollmann, Lotfi Chouchane, Joel Malek, Mahmoud A. Zirie, Amin Jayyuosi, Antonio M. Gotto, Ronald G. Crystal. Prevalence of the Apolipoprotein E Arg145Cys Dyslipidemia At-Risk Polymorphism in African-Derived Populations. The American Journal of Cardiology, 2013; DOI: 10.1016/j.amjcard.2013.09.021

Cite This Page:

Weill Cornell Medical College. "'Rare' gene common in African descendants, may contribute to heart disease." ScienceDaily. ScienceDaily, 25 November 2013. <www.sciencedaily.com/releases/2013/11/131125121902.htm>.
Weill Cornell Medical College. (2013, November 25). 'Rare' gene common in African descendants, may contribute to heart disease. ScienceDaily. Retrieved April 20, 2014 from www.sciencedaily.com/releases/2013/11/131125121902.htm
Weill Cornell Medical College. "'Rare' gene common in African descendants, may contribute to heart disease." ScienceDaily. www.sciencedaily.com/releases/2013/11/131125121902.htm (accessed April 20, 2014).

Share This



More Health & Medicine News

Sunday, April 20, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Nine-Month-Old Baby Can't Open His Mouth

Nine-Month-Old Baby Can't Open His Mouth

Newsy (Apr. 19, 2014) Nine-month-old Wyatt Scott was born with a rare disorder called congenital trismus, which prevents him from opening his mouth. Video provided by Newsy
Powered by NewsLook.com
'Holy Grail' Of Weight Loss? New Find Could Be It

'Holy Grail' Of Weight Loss? New Find Could Be It

Newsy (Apr. 18, 2014) In a potential breakthrough for future obesity treatments, scientists have used MRI scans to pinpoint brown fat in a living adult for the first time. Video provided by Newsy
Powered by NewsLook.com
Little Progress Made In Fighting Food Poisoning, CDC Says

Little Progress Made In Fighting Food Poisoning, CDC Says

Newsy (Apr. 18, 2014) A new report shows rates of two foodborne infections increased in the U.S. in recent years, while salmonella actually dropped 9 percent. Video provided by Newsy
Powered by NewsLook.com
Scientists Create Stem Cells From Adult Skin Cells

Scientists Create Stem Cells From Adult Skin Cells

Newsy (Apr. 17, 2014) The breakthrough could mean a cure for some serious diseases and even the possibility of human cloning, but it's all still a way off. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins