Region of chromosome 1 important in blood pressure regulation

Scientists are closing in on genetic contributors to high blood pressure and other causes of heart and cardiovascular disease. At the American Society for Human Genetics annual meeting in Los Angeles, Hopkins research associate Yen-Pei Christy Chang, Ph.D., will present evidence that a region of chromosome 1 is involved in appropriately regulating blood pressure. Her talk is scheduled for 10:15 a.m., Saturday, Nov. 8.

The scientists conducted a genome-wide analysis of 1,875 people in 585 families collected through the GenNet network of the National Heart, Lung and Blood Institute’s Family Blood Pressure Program. Through their analysis, the scientists linked a region containing more than 200 known genes to blood pressure. The researchers also highlighted 24 genes whose functions might predict some role in hypertension, and closely examined nine of these genes. Their work uncovered genetic changes called single nucleotide polymorphisms (SNPs) in three of these nine that were associated with hypertension.

This region of chromosome 1 has been linked to related disorders such as type 2 diabetes and to a condition called familial hyperlipidemia (in which levels of cholesterol are high). However, this is the first analysis to identify candidate genes for additional study and to offer good evidence that more than one gene in the region is involved in blood pressure regulation, says the study’s principal investigator, Aravinda Chakravarti, Ph.D., director of the McKusick-Nathans Institute of Genetic Medicine.

The researchers are continuing to evaluate how the three genes’ functions might be affected by the observed SNPs, says Chakravarti.