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Direct, reverse or reciprocal causation in the relation between homocysteine and ischemic heart disease
Mario Grassi1, Deodato Assanelli, Alessandro Pezzini
1Dipartimento di Scienze Sanitarie Applicate, Sezione di Statistica Medica ed Epidemiologia, Università degli Studi di Pavia, Pavia, Italia.
Insights
Mild hyperhomocysteinemia may be a direct risk factor for ischemic heart disease (IHD). This study suggests a causal link between elevated homocysteine levels and IHD, supporting a genotype-phenotype-disease mediation process.
Area of Science:
- Cardiovascular Genetics
- Metabolic Disorders
- Epidemiology
Background:
- The role of mild hyperhomocysteinemia in ischemic heart disease (IHD) remains unclear, with debate on whether it is a cause or consequence.
- Investigating the causal relationship between homocysteine (Hcy) and IHD is crucial for understanding cardiovascular disease (CVD) pathogenesis.
Purpose of the Study:
- To determine if elevated homocysteine levels are a direct cause, a consequence, or reciprocally related to IHD.
- To elucidate the underlying mechanisms, including potential genotype-phenotype-disease mediation, in the Hcy-IHD association.
Main Methods:
- Utilized Structural Equation Models (SEMs) to test direct, reversal, and reciprocal causality between total homocysteine (tHcy) and IHD in 94 families.
- Employed "Pearl's instrumental inequalities" to validate findings and assess the role of MTHFR as an instrumental variable.
- Analyzed genetic and phenotypic data from 296 family members, including those with premature IHD.
Main Results:
- A significant association between tHcy and IHD was observed under a direct causality model (OR=1.38, 95% CI: 1.01-1.88 per 10 micromol/l increase in tHcy).
- Reversal and reciprocal causality models did not show significant associations.
- MTHFR gene variants indirectly influenced IHD through tHcy, suggesting a mediation effect, despite a non-significant direct MTHFR-IHD relationship.
Conclusions:
- Findings support a causal relationship between moderately elevated plasma tHcy levels and IHD.
- Evidence suggests a triangular genotype-phenotype-disease mediation process in the Hcy-IHD association.
- This implies that homocysteine is a modifiable risk factor for IHD.
Background:
Whether mild hyperhomocysteinemia is a risk factor for ischemic heart disease (IHD) or it is a secondary epiphenomenon remains unknown. We tested the alternative hypotheses that the Hcy-IHD relation is due to direct, reversal or reciprocal causality.
Methods:
Ninety-four families from 32 pedigrees (296 members) including subjects who died for a premature (<50 years) IHD and with at least one family member with also a premature IHD were selected. Three Structural Equation Models were created, in which causal (Model 1), reversal (Model 2), and reciprocal (Model 3) tHcy-IHD relation were tested. Results were confirmed by testing "Pearl's instrumental inequalities".
Results:
A significant tHcy-IHD association was found in Model 1 (OR=1.38, 95% CI: 1.01 to 1.88, for any increase of +10 micromol/l in tHcy), as opposed to a non-significant association in the other models (Model 2: MD=+1.63 micromol/l, 95% CI: -1.72 to +4.99 micromol/l; Model 3: OR=0.69, 95% CI: 0.17 to 2.78 for tHcy predictor of IHD; MD=-0.46 micromol/l, 95% CI: -2.41 to 1.48 micromol/l, for IHD predictor of tHcy). "Pearl's instrumental inequalities" qualify MTHFR as an instrument relative to the tHcy-IHD relation. A suppression effect may explain the non-significant total MTHFR-IHD relation (OR=1.275, 95% CI: 1.02 to 1.71 for the indirect MTHFR-tHcy-IHD path; OR=0.52, 95% CI: 0.17 to 1.64 for the direct MTHFR-IHD path).
Conclusion:
Our findings support the assumption of a triangular genotype-phenotype-disease mediation process in the Hcy-IHD relation, and indirectly, of a causal relationship between moderately elevated plasma tHcy levels and IHD.
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