Featured Research

from universities, journals, and other organizations

Novel genes associated with risk for oral cleft malformation identified

Date:
May 3, 2010
Source:
Johns Hopkins University Bloomberg School of Public Health
Summary:
An international consortium of scientists has identified two genes that when altered are closely associated with cleft lip and/or cleft palate. Cleft lip and cleft palate are among the world's most common congenital malformations and occur in one in every 700 births. The study identified four different regions of the human genome likely to contain genes controlling risk for cleft lip and/or cleft palate.

An international consortium of scientists, led by researchers at Johns Hopkins University has identified two genes that when altered are closely associated with cleft lip and/or cleft palate. Cleft lip and cleft palate are among the world's most common congenital malformations and occur in one in every 700 births. The finding is the result of the largest family-based, genome-wide study of cleft lip and/or cleft palate conducted to date. The results were published online by the journal Nature Genetics.

The study identified four different regions of the human genome likely to contain genes controlling risk for cleft lip and/or cleft palate. Two of these regions, the IRF6 gene on chromosome 1 and a region on chromosome 8, were previously identified in other studies. The current study identified genes MAFB on chromosome 20 and ABCA4 on another part of chromosome 1 as being associated with cleft lip and/or cleft palate.

"We confirmed that the previously identified gene IRF6 and a suspected segment of chromosome eight seem to be frequently altered in people born with clefts," said Terri H. Beaty, PhD, lead author on the study and professor of Epidemiology at Johns Hopkins Bloomberg School of Public Health. "This finding pulls together past work, while identifying new potentially causal genes that help to move the science forward."

The genome-wide association study involved 1,900 families with a baby affected with cleft lip and/or cleft palate from the United States, Norway, Denmark, the Philippines, Taiwan, China, Singapore and South Korea. Over 500,000 genetic markers (called single nucleotide polymorphisms or SNPs) were used to cover the entire human genome. Researchers compared these SNPs in babies affected with cleft lip and/or palate to those carried by his or her parents to test each marker. The families studied were roughly evenly divided between families of European and Asian ancestry, which allowed the two groups to be compared directly.

The total sample identified four genes strongly associated with risk for cleft lip and/or cleft palate. Families of European ancestry, including European Americans, had the strongest statistical support for the region on chromosome 8. Asian families (from China, Korea, Singapore, Taiwan and the Philippines) had strongest support for IRF6, MAFB and ABCA4 genes. In addition to findings in humans, the investigators showed the MAFB gene was active in the developing head and mouth of embryonic mice, which further argues this gene plays some role in normal development.

"While these findings cannot yet be used to identify infants or families at immediate risk, they do open up important new areas of biological research into the causes of cleft lip and palate," said Beaty. "Fully understanding how several different genes can control risk to common human birth defects will create opportunities for more effective preventive measures in the future."

The consortium to study cleft lip and cleft palate was formed in 2007 and involved researchers at the Bloomberg School of Public Health, the Johns Hopkins School of Medicine, the University of Iowa, University of Pittsburgh, Utah State University and research groups from Norway, Denmark, the Philippines, Taiwan, China, Singapore and South Korea. The research was supported by the National Institutes of Health.


Story Source:

The above story is based on materials provided by Johns Hopkins University Bloomberg School of Public Health. Note: Materials may be edited for content and length.


Journal Reference:

  1. Terri H Beaty, Jeffrey C Murray, Mary L Marazita, Ronald G Munger, Ingo Ruczinski, Jacqueline B Hetmanski, Kung Yee Liang, Tao Wu, Tanda Murray, M Daniele Fallin, Richard A Redett, Gerald Raymond, Holger Schwender, Sheng-Chih Jin, Margaret E Cooper, Martine Dunnwald, Maria A Mansilla, Elizabeth Leslie, Stephen Bullard, Andrew C Lidral, Lina M Moreno, Renato Menezes, Alexandre R Vieira, Aline Petrin, Allen J Wilcox, Rolv T Lie, Ethylin W Jabs, Yah Huei Wu-Chou, Philip K Chen, Hong Wang, Xiaoqian Ye, Shangzhi Huang, Vincent Yeow, Samuel S Chong, Sun Ha Jee, Bing Shi, Kaare Christensen, Mads Melbye, Kimberly F Doheny, Elizabeth W Pugh, Hua Ling, Eduardo E Castilla, Andrew E Czeizel, Lian Ma, L Leigh Field, Lawrence Brody, Faith Pangilinan, James L Mills, Anne M Molloy, Peadar N Kirke, James M Scott, Mauricio Arcos-Burgos, Alan F Scott. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nature Genetics, 2010; DOI: 10.1038/ng.580

Cite This Page:

Johns Hopkins University Bloomberg School of Public Health. "Novel genes associated with risk for oral cleft malformation identified." ScienceDaily. ScienceDaily, 3 May 2010. <www.sciencedaily.com/releases/2010/05/100503135657.htm>.
Johns Hopkins University Bloomberg School of Public Health. (2010, May 3). Novel genes associated with risk for oral cleft malformation identified. ScienceDaily. Retrieved September 16, 2014 from www.sciencedaily.com/releases/2010/05/100503135657.htm
Johns Hopkins University Bloomberg School of Public Health. "Novel genes associated with risk for oral cleft malformation identified." ScienceDaily. www.sciencedaily.com/releases/2010/05/100503135657.htm (accessed September 16, 2014).

Share This



More Health & Medicine News

Tuesday, September 16, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

EU Ministers and Experts Meet to Discuss Ebola Reponse

EU Ministers and Experts Meet to Discuss Ebola Reponse

AFP (Sep. 15, 2014) The European Commission met on Monday to coordinate aid that the EU can offer to African countries affected by the Ebola outbreak. Duration: 00:58 Video provided by AFP
Powered by NewsLook.com
Despite The Risks, Antibiotics Still Overprescribed For Kids

Despite The Risks, Antibiotics Still Overprescribed For Kids

Newsy (Sep. 15, 2014) A new study finds children are prescribed antibiotics twice as often as is necessary. Video provided by Newsy
Powered by NewsLook.com
FDA Eyes Skin Shocks Used at Mass. School

FDA Eyes Skin Shocks Used at Mass. School

AP (Sep. 15, 2014) The FDA is considering whether to ban devices used by the Judge Rotenberg Educational Center in Canton, Massachusetts, the only place in the country known to use electrical skin shocks as aversive conditioning for aggressive patients. (Sept. 15) Video provided by AP
Powered by NewsLook.com
Respiratory Virus Spreads To Northeast, Now In 21 States

Respiratory Virus Spreads To Northeast, Now In 21 States

Newsy (Sep. 14, 2014) The respiratory virus Enterovirus D68, which targets children, has spread from the Midwest to 21 states. 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