Genome-wide linkage analysis of congenital heart defects using MOD score analysis identifies two novel loci.

BACKGROUND: Congenital heart defects (CHD) is the most common cause of death from a congenital structure abnormality in newborns and is often associated with fetal loss. There are many types of CHD. Human genetic studies have identified genes that are responsible for the inheritance of a particular type of CHD and for some types of CHD previously thought to be sporadic. However, occasionally different members of the same family might have anatomically distinct defects - for instance, one member with atrial septal defect, one with tetralogy of Fallot, and one with ventricular septal defect. Our objective is to identify susceptibility loci for CHD in families affected by distinct defects. The occurrence of these apparently discordant clinical phenotypes within one family might hint at a genetic framework common to most types of CHD. RESULTS: We performed a genome-wide linkage analysis using MOD score analysis in families with diverse CHD. Significant linkage was obtained in two regions, at chromosome 15 (15q26.3, P(empirical) = 0.0004) and at chromosome 18 (18q21.2, P(empirical) = 0.0005). CONCLUSIONS: In these two novel regions four candidate genes are located: SELS, SNRPA1, and PCSK6 on 15q26.3, and TCF4 on 18q21.2. The new loci reported here have not previously been described in connection with CHD. Although further studies in other cohorts are needed to confirm these findings, the results presented here together with recent insight into how the heart normally develops will improve the understanding of CHD.

ACTYBOSS: activity, behavioral therapy in young subjects--after-school intervention pilot project on obesity prevention.

AIMS: To test the feasibility of a school-based intervention, which combines an incentive-driven physical activity program with lifestyle lectures, and its potential beneficial outcome on children's metabolic parameters. METHODS: We conducted a 6-month pilot intervention in two high schools in Mallorca, Spain, consisting of a program which involved free supervised exercise sessions and nutritional lectures, where children received credit points as a reward for the hours spent exercising and attendance to the lectures. The credit-earned points obtained were exchanged for gifts. We developed personalized cards and a web application for the participants to check the gifts they were eligible for (www.actyboss.com). Percentage body fat, percentage of fat-free mass and BMI were measured. Secondary measures included fitness parameters, blood pressure and blood lipids levels. 90 children signed up the consent form and 56 completed the program until the endpoint. RESULTS: We found a beneficial effect on body composition, fitness parameters, and systolic blood pressure in children who participated in ACTYBOSS compared to children who did not start the intervention. CONCLUSIONS: We describe the incentive-driven, after-school intervention pilot program to promote physical activity and a healthy lifestyle. The program had a positive effect on anthropometric measurements. A larger incentive-driven healthy lifestyle program is now ongoing.