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Incidence of Factor V Leiden and Prothrombin Gene Polymorphisms as Risk Factors for Coronary Artery Disease in a Libyan Population: A Case–Control Study

This case–control study of a Libyan population identifies Factor V Leiden and Factor V H1299R polymorphisms as significant genetic risk factors for coronary artery disease, while finding no statistically significant association with the Prothrombin G20210A variant.

Original authors: Ahlam M Ahbeel, Ahmed M Eshwika, Lutfi M Bakar, Mohamed S Abughren, Abdulrzag F. Ahmed

Published 2026-07-14

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CC BY 4.0

Original authors: Ahlam M Ahbeel, Ahmed M Eshwika, Lutfi M Bakar, Mohamed S Abughren, Abdulrzag F. Ahmed

Original paper licensed under CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). ✨ This is an AI-generated explanation of the paper below. It is not written or endorsed by the authors. For technical accuracy, refer to the original paper. Read full disclaimer

Imagine your body's blood vessels as a busy highway system. Usually, the traffic flows smoothly, but sometimes, the road gets clogged with sticky, gummy traffic jams called clots. When these jams happen in the heart's own roads, it's called Coronary Artery Disease (CAD), a serious condition that stops the heart from getting the fuel it needs.

Scientists have long wondered if some people are born with a "sticky traffic" gene that makes these jams more likely. In this study, researchers from Libya decided to play detective. They gathered a group of 61 people: 49 who had already hit a major traffic jam (CAD patients) and 12 who were cruising freely (healthy controls). They took a tiny sample of blood from everyone to look for three specific genetic "glitches" that might be the culprits: Factor V Leiden, Factor V H1299R, and Prothrombin G20210A.

The Big Discovery: The "Super-Sticky" Glitch

The investigation found a massive clue. One of the glitches, called Factor V Leiden, was like finding a broken brake pedal in the cars of the people with traffic jams.

The Fact: The researchers found that people with a specific version of this gene (the GA genotype) were 12.44 times more likely to have CAD than those without it.
The Numbers: In the group of 49 patients, 53.1% had this glitch. But in the healthy group of 12 people, only 8.3% had it.
The Confidence: This wasn't a lucky guess; the math showed a very strong link (p = 0.005). The paper treats this as a solid finding for this specific group of Libyans.

The Second Suspect: The "Sneaky" Glitch

There was a second suspect, Factor V H1299R. This one was even more mysterious.

The Fact: This glitch was found in 28.6% of the patients but was completely missing (0%) from the healthy group.
The Confidence: The paper says this shows a "significant association," meaning it's likely a real clue, but because the healthy group was so small, the authors are careful to say it's a strong hint rather than a slam-dunk proof.

The Red Herring: The "Ghost" Glitch

The team also looked for a third glitch, Prothrombin G20210A. They found it in some patients, but here's the twist: it didn't seem to matter.

The Fact: Even though the glitch appeared in the patient group, the math showed no real connection to the disease (p = 0.109).
The Verdict: The paper explicitly rules this out as a major cause for CAD in this specific group. It's like finding a muddy footprint in a room where the floor is already wet; it's there, but it didn't cause the mess.

Other Clues and Oddities

The detectives also checked the "fuel gauges" (cholesterol levels) and "traffic sensors" (D-dimer levels).

D-dimer: The patients had much higher levels of this marker (p = 0.001), confirming that their bodies were indeed in a state of "sticky traffic" or clotting.
Cholesterol: Here's the weird part. The healthy people actually had higher total cholesterol and HDL (the "good" cholesterol) than the patients. The authors suggest this is because the patients had already started taking medicine and changing their diets after getting sick, while the healthy people hadn't. It's a bit like finding that the people who just bought a gym membership have lower muscle mass than the people who haven't started yet—it's because the gym-goers are just starting their journey!

How Sure Are We?

The researchers are excited but cautious. They admit their "detective squad" was small, especially the healthy group (only 12 people). This is like trying to solve a mystery with only a few witnesses; you might get the right answer, but you need more people to be 100% sure. They also couldn't control for every single factor like smoking or diet in their final math.

The Bottom Line:
For the people in this Libyan study, having the Factor V Leiden gene is a very strong sign that you might be at risk for heart traffic jams, and Factor V H1299R is a likely suspect too. However, the Prothrombin gene doesn't seem to be the troublemaker here. This study is the first to shine a light on these specific genetic clues in Libya, offering a new map for future detectives to explore.

Technical Summary: Incidence of Factor V Leiden and Prothrombin Gene Polymorphisms as Risk Factors for Coronary Artery Disease in a Libyan Population

Problem Statement
Cardiovascular diseases (CVDs) remain the leading cause of global mortality, with atherosclerosis serving as the primary pathological substrate. While modifiable risk factors (e.g., smoking, hypertension) are well-established, the contribution of inherited thrombophilia polymorphisms to coronary artery disease (CAD) remains controversial, particularly in understudied populations. There is a significant lack of data regarding the prevalence and impact of specific coagulation factor gene mutations—namely Factor V Leiden (G1691A), Factor V H1299R (HR2), and Prothrombin G20210A—within the Libyan population. This study addresses this gap by investigating whether these genetic determinants are associated with CAD susceptibility in Libya.

Methodology
The researchers conducted a case–control study involving adult Libyan nationals recruited from clinical centers in Tripoli.

Participants: From an initial recruitment of 82 individuals, 61 participants were included in the final analysis after quality control exclusions (due to incomplete data, ineligibility, or inconclusive PCR results). The cohort consisted of 49 confirmed CAD cases and 12 healthy controls.
Data Collection: Clinical and demographic data were gathered via interviews and medical records. Fasting venous blood samples were collected for biochemical analysis (lipid profile, D-dimer) and genomic DNA extraction.
Genotyping: Genomic DNA was extracted using magnetic bead technology. Polymorphisms were analyzed using the CVD StripAssay® (ViennaLab Diagnostics), a reverse hybridization assay based on PCR amplification followed by allele-specific probe hybridization. The study focused primarily on Factor V Leiden (G1691A), Prothrombin (G20210A), and Factor V H1299R (HR2), though the assay covered a broader panel of thrombophilia markers.
Statistical Analysis: Data were analyzed using SPSS version 27. Associations between genotypes and CAD were assessed using chi-square tests, Fisher's exact test (for small cell counts), and Odds Ratios (OR). Hardy–Weinberg equilibrium (HWE) was evaluated in the control group.

Key Results

Biochemical Markers: CAD patients exhibited significantly higher D-dimer levels compared to controls ( $p=0.001$ ). Conversely, total cholesterol ( $p=0.017$ ) and HDL cholesterol ( $p=0.008$ ) were significantly higher in the control group, a finding the authors attribute to lipid-lowering therapies and dietary changes in diagnosed patients.
Factor V Leiden (G1691A): A strong and statistically significant association was found between the heterozygous GA genotype and CAD susceptibility. The GA genotype was present in 53.1% of cases versus 8.3% of controls, yielding an Odds Ratio of 12.44 ( $p=0.005$ ). No homozygous AA individuals were detected.
Factor V H1299R (HR2): The heterozygous AG genotype was found exclusively in the CAD cases (28.6%) and was absent in all controls, showing a statistically significant association ( $p=0.035$ ).
Prothrombin G20210A: While the GA variant was more frequent in patients (20.4%) than controls (0%), the association with CAD was not statistically significant ( $p=0.109$ ).
Demographics: No significant associations were found between the studied polymorphisms and age or sex within the CAD patient group.

Significance and Claims
The paper claims to provide novel molecular epidemiological evidence from Libya, a population previously underrepresented in thrombophilia literature. The primary significance lies in identifying the Factor V Leiden heterozygous genotype as a significant genetic risk factor for CAD in this specific cohort. Additionally, the study offers suggestive evidence that the Factor V H1299R polymorphism may contribute to disease susceptibility, while finding no significant contribution from the Prothrombin G20210A variant.

The authors position these findings as a foundation for future CAD risk assessment strategies in Libya, supporting the potential integration of genetic and biochemical markers. However, the paper maintains a modest tone regarding its conclusions, explicitly acknowledging limitations such as the small sample size (particularly the control group), the cross-sectional design which precludes causal inference, and the lack of multivariate adjustment for conventional risk factors. Consequently, the authors conclude that these results warrant validation through large-scale, multicenter studies with broader genetic profiling and multivariate adjustment.