Research Highlight

Genetic predictive marker for heart disease

doi:10.1038/nindia.2021.1 Published online 5 January 2021

Development of coronary artery disease (CAD) is primarily due to narrowing of arteries due to plaque buildup (atherosclerosis), but predicting the course of the disease following its onset (prognosis) has so far not been possible.

Now researchers in Hyderabad have identified a specific marker located at a particular genetic region (9p21.3) for predicting CAD development and its progression1. They did so by genotyping Single-Nucleotide Polymorphisms (SNPs), which are substitutions of one nucleotide by another at a specific position in the genome.

Many diseases such as sickle-cell anaemia, β-thalassemia and cystic fibrosis result from SNPs. The severity of illness and the way the body responds to treatments are also manifestations of genetic variations.

The researchers genotyped 35 SNPs at the 9p21.3 region – located in the cyclin dependent kinase inhibitor (CDKN2A/CDKN2B) genes  – in 350 CAD patients and 480 controls from Hyderabad in south India. They found only one SNP out of these 35, the rs7865618, highly significantly associated with CAD. In particular, this SNP was associated with triple vessel disease and acute coronary syndrome categories of CAD.

The SNP rs7865618 of CDKN2B-AS1 gene from the 9p21.3 region could be a strong candidate as a predictive marker for CAD risk, according to the researchers. This SNP, they say, may be screened in all forms of CAD in order to determine the prognosis or severity of the disease. They also suggest screening for rs7865618 in other complex diseases such as hypertension and type2 diabetes as a precautionary or preventive measure for possible future development of CAD, they add.


1. Manjula, G. et al. The SNP rs7865618 of 9p21.3 locus emerges as the most promising marker of coronary artery disease in the southern Indian population. Sci. Rep. 10, 21511 (2020) doi: 10.1038/s41598-020-77080-4