Novel genes associated with risk for oral cleft malformation identified

May 03, 2010

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."
-end-
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.

Johns Hopkins University Bloomberg School of Public Health

Related Public Health Articles from Brightsurf:

COVID-19 and the decolonization of Indigenous public health
Indigenous self-determination, leadership and knowledge have helped protect Indigenous communities in Canada during the coronavirus disease 2019 (COVID-19) pandemic, and these principles should be incorporated into public health in future, argue the authors of a commentary in CMAJ (Canadian Medical Association Journal) http://www.cmaj.ca/lookup/doi/10.1503/cmaj.200852.

Public health consequences of policing homelessness
In a new study examining homelessness, researchers find that policy such a lifestyle has massive public health implications, making sleeping on the street even MORE unhealthy.

Electronic health information exchange improves public health disease reporting
Disease tracking is an important area of focus for health departments in the midst of the COVID-19 pandemic.

Pandemic likely to cause long-term health problems, Yale School of Public Health finds
The coronavirus pandemic's life-altering effects are likely to result in lasting physical and mental health consequences for many people--particularly those from vulnerable populations--a new study led by the Yale School of Public Health finds.

The Lancet Public Health: US modelling study estimates impact of school closures for COVID-19 on US health-care workforce and associated mortality
US policymakers considering physical distancing measures to slow the spread of COVID-19 face a difficult trade-off between closing schools to reduce transmission and new cases, and potential health-care worker absenteeism due to additional childcare needs that could ultimately increase mortality from COVID-19, according to new modelling research published in The Lancet Public Health journal.

The Lancet Public Health: Access to identification documents reflecting gender identity may improve trans mental health
Results from a survey of over 20,000 American trans adults suggest that having access to identification documents which reflect their identified gender helps to improve their mental health and may reduce suicidal thoughts, according to a study published in The Lancet Public Health journal.

The Lancet Public Health: Study estimates mental health impact of welfare reform, Universal Credit, in Great Britain
The 2013 Universal Credit welfare reform appears to have led to an increase in the prevalence of psychological distress among unemployed recipients, according to a nationally representative study following more than 52,000 working-age individuals from England, Wales, and Scotland over nine years between 2009-2018, published as part of an issue of The Lancet Public Health journal on income and health.

BU researchers: Pornography is not a 'public health crisis'
Researchers from the Boston University School of Public Health (BUSPH) have written an editorial in the American Journal of Public Health special February issue arguing against the claim that pornography is a public health crisis, and explaining why such a claim actually endangers the health of the public.

The Lancet Public Health: Ageism linked to poorer health in older people in England
Ageism may be linked with poorer health in older people in England, according to an observational study of over 7,500 people aged over 50 published in The Lancet Public Health journal.

Study: Public transportation use linked to better public health
Promoting robust public transportation systems may come with a bonus for public health -- lower obesity rates.

Read More: Public Health News and Public Health Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.