What you carry at this position in your DNA and what research says about it.
Coronary Artery Disease: 8/10 evidence, 17 publications.
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Sample genotype (not yours): C/C
Typical Heart and Blood Vessel Risk
Standard levels of lysosomal acid lipase enzyme activity help maintain typical arterial health. There is no elevated risk of coronary artery disease, heart attack, or stroke associated with this genotype.
What this genotype means: Typical baseline risk for coronary artery disease; Normal lysosomal acid lipase enzyme activity; Standard risk levels for large artery stroke.
Sample genotype (not yours): C/T
Slightly Higher Heart and Stroke Risk
One copy of the T allele increases lysosomal acid lipase activity in immune cells, slightly raising the risk of plaque buildup. This is associated with a modest increase in the risk of coronary artery disease and stroke.
What this genotype means: Slightly elevated risk of coronary artery disease; Moderately increased risk of large artery stroke; Slightly higher levels of systemic inflammatory markers.
Sample genotype (not yours): T/T
Higher Heart and Stroke Risk
Two copies of the T allele significantly increase lysosomal acid lipase activity in immune cells, promoting arterial plaque buildup. This genotype is linked to the highest risk of coronary artery disease, heart attack, and stroke at this locus.
What this genotype means: Elevated risk of coronary artery disease and heart attack; Increased risk of large artery stroke; Higher baseline levels of C-reactive protein.
Gene function and biological role
Gene Function: LIPA encodes lysosomal acid lipase, an enzyme responsible for breaking down cholesteryl esters and triglycerides inside cells. Under normal conditions, this enzyme plays a vital role in maintaining cellular cholesterol balance and preventing lipid accumulation. However, altered expression of this gene can significantly impact inflammatory responses and lipid processing within immune cells. These cellular changes can ultimately influence the development of arterial plaques and cardiovascular disease.
Variant Impact: The rs1412444 variant is an intronic genetic change that acts as a myeloid-specific enhancer regulating LIPA gene expression. The T allele increases the transcription, protein levels, and overall enzyme activity of lysosomal acid lipase in monocytes and macrophages. This elevated activity promotes the accumulation of inflammatory macrophages within blood vessel walls. Consequently, this process accelerates the formation of atherosclerotic plaques and increases cardiovascular risk.
Key Insight: While rare mutations that completely disable the LIPA gene cause severe lipid storage diseases, common variants that increase its activity actually promote arterial plaque buildup by altering immune cell behavior.
Location: LIPA. Chromosome 10 · 10q23.31 · 89.2 Mb
Estimated prevalence by population
Global 39.8%; European 43.9%; African 37.2%; East Asian 47.2%; South Asian 22.6%; Americas 32.7%; Ashkenazi 40.8%; Finnish 35.6%; Middle Eastern 32.6%; Amish 70.6%.
Estimated CC genotype frequency.
Global 46.2%; European 44.7%; African 47.6%; East Asian 43.0%; South Asian 49.9%; Americas 49.0%; Ashkenazi 46.1%; Finnish 48.1%; Middle Eastern 49.0%; Amish 26.8%.
Estimated CT genotype frequency.
Global 14.0%; European 11.4%; African 15.2%; East Asian 9.8%; South Asian 27.6%; Americas 18.3%; Ashkenazi 13.0%; Finnish 16.2%; Middle Eastern 18.4%; Amish 2.6%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 8/10. Source: PMID 21606135. Typical Risk.
Heart Attack. Evidence: 8/10. Source: PMID 33532862. Typical Risk.
Stroke
Stroke. Evidence: 6/10. Source: PMID 36180795. Typical Risk.
Vascular Health & Aneurysm
Aortic Aneurysm. Evidence: 8/10. Source: PMID 37845353. Typical Risk.
Blood Cell & Iron Traits
White Blood Cell Count. Evidence: 8/10. Source: PMID 39024449. Typical Count.
Immunity & Inflammation
Inflammatory & Circulating Protein Markers
C-Reactive Protein. Evidence: 8/10. Source: PMID 31900758. Typical Levels.
Showing effects for C/T genotype
Coronary Artery Disease. Evidence: 8/10. Source: PMID 21606135. ~1.08x Risk.
Heart Attack. Evidence: 8/10. Source: PMID 33532862. ~1.07x Risk.
Stroke. Evidence: 6/10. Source: PMID 36180795. ~1.07x Risk.
Aortic Aneurysm. Evidence: 8/10. Source: PMID 37845353. Slightly Increased.
White Blood Cell Count. Evidence: 8/10. Source: PMID 39024449. Slightly Higher.
C-Reactive Protein. Evidence: 8/10. Source: PMID 31900758. Slightly Higher.
Showing effects for T/T genotype
Coronary Artery Disease. Evidence: 8/10. Source: PMID 21606135. ~1.16x Risk.
Heart Attack. Evidence: 8/10. Source: PMID 33532862. ~1.14x Risk.
Stroke. Evidence: 6/10. Source: PMID 36180795. ~1.14x Risk.
Aortic Aneurysm. Evidence: 8/10. Source: PMID 37845353. Increased Risk.
White Blood Cell Count. Evidence: 8/10. Source: PMID 39024449. Higher Count.
C-Reactive Protein. Evidence: 8/10. Source: PMID 31900758. Higher Levels.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Carrying two copies of the common C allele is linked to typical levels of LIPA gene expression in immune cells. This baseline expression keeps lysosomal acid lipase activity at a normal level, preventing the excessive accumulation of macrophages in blood vessel walls. Large-scale genomic studies show that this genotype does not carry the increased risk of coronary artery disease or heart attacks seen in T allele carriers. Additionally, risk levels for large artery stroke and abdominal aortic aneurysms remain at the population baseline. Maintaining a heart-healthy lifestyle further supports these natural baseline protections.
Typical baseline risk for coronary artery disease; Normal lysosomal acid lipase enzyme activity; Standard risk levels for large artery stroke.
Sample genotype: CT (Heterozygous)
Having one copy of the T allele is associated with increased LIPA gene expression and enzyme activity in monocytes and macrophages. This elevated activity enhances the accumulation of inflammatory macrophages within arterial walls, promoting plaque formation. Clinical data link this genotype to a slightly higher risk of developing coronary artery disease and experiencing a heart attack. There is also a small increase in the risk of large artery stroke and abdominal aortic aneurysms. Managing cardiovascular risk factors like blood pressure and cholesterol is particularly beneficial for individuals with this genetic profile.
Slightly elevated risk of coronary artery disease; Moderately increased risk of large artery stroke; Slightly higher levels of systemic inflammatory markers.
Sample genotype: TT (Homozygous)
Carrying two copies of the T allele leads to the highest levels of LIPA expression and enzyme activity in macrophages. This overactivity accelerates the infiltration of circulating monocytes into blood vessel walls, driving the progression of atherosclerosis. Meta-analyses show a clear increase in the risk of premature coronary artery disease and myocardial infarction for this genotype. The risk of large artery stroke and abdominal aortic aneurysms is also elevated compared to the typical genotype. Proactive cardiovascular care, including regular lipid panels and a healthy diet, can help mitigate these inherited risks.
Elevated risk of coronary artery disease and heart attack; Increased risk of large artery stroke; Higher baseline levels of C-reactive protein.
Variants with shared genetic architecture
rs2107595 · HDAC9 Gene · Chr 7 · Cardiovascular Disease Risk
rs501120 · CXCL12 Gene · Chr 10 · Heart Disease Risk
rs1333049 · CDKN2B-AS1 Gene · Chr 9 · Heart Disease Risk
Content updated August 2026.
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