Research at the MGH is interwoven throughout more than 30 departments, centers and units, and is conducted with the support and guidance of the MGH Research Institute. The Research Roundup is a monthly series highlighting studies, news and events.

Genetic Study Identifies Link Between Body Shape and Risk of Heart Disease and Diabetes

When you put on weight, do the pounds show up at your waistline or on your hips? The answer could have long-term implications for your risk of developing coronary heart disease (CHD) and Type 2 diabetes.

A recent study by MGH researchers found that individuals who have a genetic disposition for storing fat deposits primarily at their waistline (known as abdominal adiposity) were at a higher risk of developing both diabetes and CHD when compared to individuals who store fat primarily in their hips and thighs.

The large-scale study analyzed the genetic information from more than 400,000 individuals from the UK Biobank project. Body type was calculated using 48 gene variants associated with waist-to-hip ratio, and adjusted for body mass index.

The team not only found that individuals who stored fat primarily at the waist had an increased risk of developing both conditions, but also were able to confirm that this risk was independent of lifestyle-related risk factors such as poor diet, lack of exercise and smoking.

The results of the study should encourage doctors to account for body type when assessing a patient’s risk for developing these conditions, and could spur the development of new drugs that could lower that risk by altering the body’s fat distribution pathways.

Connor Edmin, DPhil, of the Center for Genomic Medicine and the Cardiology Division is lead author of the study and Sekar Kathiresan, MD, director of the Center for Genomic Medicine, is senior author.

A New Strategy for Assessing Sleep Apnea Risk in Individuals with Down Syndrome

Investigators at the MassGeneral Hospital for Children have developed a promising new method for assessing the risk of obstructive sleep apnea (OSA) in children with Down syndrome.

The new method, which employs information that can be gathered during a visit to a primary care physician, could help to reduce the need for overnight sleep studies, which can be expensive and difficult for children and their families.

OSA occurs when the airway becomes restricted or blocked during sleep, causing breathing to become shallow or temporarily stop. In addition to interrupting sleep, OSA lowers oxygen levels in the blood and can impair cardiac, metabolic and cognitive functioning.

It is estimated that close to half of individuals with Down syndrome have OSA due to alterations in their craniofacial features that result from the syndrome. The American Academy of Pediatrics recommends that all children with Down syndrome undergo an overnight sleep study to screen for OSA starting at age 4.

The sleep studies are effective in measuring OSA risk, but they can be expensive and difficult to access in certain areas of the U.S. The studies can also be a challenging experience for individuals with Down syndrome, particularly young children.

The new method, which was developed by a research team led by Brian Skotko, MD, MPP, uses a variety of factors – including the physical characteristics and vital signs of the participants plus information provided by parents on a questionnaire – to predict the risk of OSA.

In a study of 102 children with Down syndrome, the team’s new method was able to accurately predict the risk of moderate to severe OSA in 90 percent of those who were diagnosed with the condition following an overnight sleep study.

The team is now working to confirm those results in a follow-up study.