Vascular Inflammation & Remodeling

Promoter variant that increases CCL2 (MCP-1) transcription, amplifying monocyte recruitment to arterial walls and elevating atherosclerotic plaque risk

Intronic CYP2J2 tag SNP; the C allele marks a haplotype associated with increased myocardial infarction risk

Intergenic variant near SOX17 at 8q11 that reduces expression of this endothelial transcription factor, increasing susceptibility to intracranial aneurysm and cerebrovascular instability.

3' UTR variant that modulates baseline C-reactive protein levels and inflammatory status

Pathogenic NOTCH3 missense variant p.Arg332Cys that alters the cysteine count in EGF-like repeat 6, causing CADASIL — the most common inherited cause of ischemic stroke and vascular dementia

3'UTR variant that increases CCL2 mRNA stability via enhanced HuR binding, elevating MCP-1 protein output and monocyte recruitment in arterial inflammation

Intronic ALOX5AP haplotype tag; the common G allele marks the HapB cardiovascular risk haplotype, while the rare A allele confers partial protection against coronary heart disease and myocardial infarction

Intronic variant in the primary lymphangiogenesis growth factor gene; the minor A allele is protective against diabetic retinopathy and diabetic macular edema, reducing risk by ~33%

Intronic VEGFC variant independently associated with reduced diabetic retinopathy and diabetic macular edema risk; the protective T allele modulates VEGF-C-driven pathological retinal neovascularization

Regulatory variant in the CCR5 promoter that reduces CCR5 expression by ~45%; the G allele lowers surface CCR5 density on immune cells, slowing HIV disease progression, while the A allele drives higher CCR5 levels and greater monocyte recruitment to atherosclerotic plaques

Intronic CFH variant that tags the complement-risk haplotype; the C allele (common, ~80% in Europeans) marks impaired complement regulation driving AMD and systemic inflammation, while the T allele is protective

Intronic TLR4 variant in the innate immune receptor gene; the A allele associates with modestly reduced vascular inflammation and lower risk of nonfatal myocardial infarction, while the common GG genotype is linked to higher atherosclerotic cerebral infarction risk

Intronic PON1 variant that modulates arylesterase activity of the HDL-bound antioxidant enzyme paraoxonase-1

Intronic variant in estrogen receptor alpha that has been associated with gestational hypertension risk and breast cancer susceptibility

Pathogenic missense variant in the cytochrome P450 1B1 enzyme that abolishes most enzyme activity, causing primary congenital glaucoma and reduced estrogen hydroxylation capacity

Pathogenic CYP1B1 missense variant (Arg469Trp) that severely reduces enzyme activity and is a leading genetic cause of primary congenital glaucoma, particularly in Middle Eastern, Iranian, and Pakistani populations

Triallelic promoter variant that strongly influences basal CRP transcription; the T (coding) and A (coding) alleles both increase CRP expression, with the A allele having the largest effect on circulating CRP levels

Promoter variant that elevates baseline C-reactive protein levels, increasing cardiovascular inflammation risk and stroke susceptibility

Affects paraoxonase-1 enzyme activity for detoxifying organophosphates and protecting LDL from oxidation

Adipose tissue vascularization variant near VEGFA influencing fat distribution, insulin resistance, and waist-to-hip ratio with strong female-specific effects

Promoter polymorphism that controls PON1 gene expression — the T allele (A on the plus strand) reduces transcription factor binding, halving arylesterase activity and lowering HDL-mediated antioxidant protection against LDL oxidation.

Intronic/downstream PON1 haplotype-tagging variant associated with PON1 activity levels; the A allele tracks with lower PON1 antioxidant enzyme function on HDL, increasing vulnerability to LDL oxidation and cardiovascular risk

Promoter variant in UGT1A1 that tags the *28 reduced-expression haplotype; T allele carriers have lower hepatic UGT1A1 expression, mildly elevated unconjugated bilirubin (Gilbert syndrome spectrum), and altered metabolism of bilirubin, atazanavir, and irinotecan

Regulatory tag variant near SOX17 at chromosome 8q11.23 associated with intracranial aneurysm susceptibility in European and East Asian populations; A allele confers elevated risk through putative effects on SOX17 endothelial transcription factor expression