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Genetic variant raises risk of CHD
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A genetic variant on chromosome 5 strongly raises the risk of congenital heart disease [CHD], according to recently published research in the journal Public Library of Science One.
Nearly one in 100 children are born with CHD. In some cases, tiny holes form between the heart chambers and eventually close naturally, but some children suffer from life-threatening abnormal structures that require several complicated surgeries to correct. CHD can affect numerous structures within the heart; therefore the researchers decided to focus upon the earliest period of the heart’s development.
Brothers Peter J. Gruber MD, PhD, a pediatric cardiothoracic surgeon and developmental biologist at The Children’s Hospital of Philadelphia and Stephen B. Gruber, MD, PhD, a geneticist and epidemiologist at the University of Michigan Medical School, studied whether the ISL1 gene would play a significant role in CHD because of its regulatory properties of early cardiac progenitor cells.
The brothers split their research into two groups — one in Philadelphia and one in Michigan.
Peter Gruber and colleagues collected DNA samples from 300 children with CHD at CHOP’s Cardiac Center and from 2,200 healthy children at the Center for Applied Genomics. Their initial genotyping of gene variants in the DNA genes in or near the ISL1 gene noted variants in the single-nucleotide polymorphisms [SNP] that raised the risk of CHD.
Stephen Gruber and his colleagues at the University of Michigan examined specific DNA sequences and performed fine-mapping research upon the genes of 1,344 children with CHD and 6,135 healthy controls. The researchers noted that in replication studies, variants in the ISL1 gene had a strong correlation with CHD. Also, they noted that one SNP raised the risk of CHD in white children, while another SNP raised the risk in black children.
“We may be better able to understand how a child will respond to surgery, and when or even perhaps how to best perform perioperative, intraperative or postoperative care,” Gruber said in a press release. n
PLOS.10.1371/journal.pone.0010855