Genetic Studies on the APOA1-C3-A5 Gene Cluster in Asian Indians with Premature Coronary Artery Disease
Author Information
Author(s): Shanker Jayashree, Perumal Ganapathy, Rao Veena S, Khadrinarasimhiah Natesha B, John Shibu, Hebbagodi Sridhara, Mukherjee Manjari, Kakkar Vijay V
Primary Institution: Thrombosis Research Institute, Bangalore, India
Hypothesis
The study aimed to elucidate the relationship of four single nucleotide polymorphisms (SNPs) in the APOA1-C3-A5 gene cluster to plasma lipids and coronary artery disease (CAD) in Asian Indians.
Conclusion
The APOC3-Sac1 SNP is an important genetic variant associated with CAD through its interaction with plasma lipids and other standard risk factors among Asian Indians.
Supporting Evidence
- Plasma lipids showed a strong heritability (h2 48% – 70%; P < 0.0001).
- A subset of 77 ASPs showed significant linkage to CAD trait by multi-point analysis (LOD score 7.42, P < 0.001).
- Significant proportion of mean allele sharing was observed for the Sac1 SNP (pi 0.59, P < 0.001).
- QTL analysis showed suggestive evidence of linkage of the Sac1 SNP to Total Cholesterol, HDL-C, and ApoB.
Takeaway
This study looked at how certain genes affect cholesterol and heart disease in Indian families. It found that a specific gene variant is linked to higher heart disease risk.
Methodology
Genotyping and lipid assays were performed on affected sibling pairs from Asian Indian families with a strong CAD history.
Potential Biases
The analysis may be biased due to the small number of SNPs evaluated and the reliance on affected sibling pairs.
Limitations
The study had a small sample size and only evaluated four SNPs in a large genomic region, which may limit the ability to detect significant associations.
Participant Demographics
The study included 190 affected sibling pairs from Asian Indian families with a strong history of CAD.
Statistical Information
P-Value
p<0.0001
Statistical Significance
p<0.001
Digital Object Identifier (DOI)
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