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Relationship between age-related macular degeneration-associated variants of complement factor H and LOC387715 with
Jose S Pulido1, Joseph P McConnell, Ryan J Lennon
1Department of Ophthalmology, Mayo Clinic College of Medicine, Rochester, Minn 55905, USA.
Insights
Gene variants linked to age-related macular degeneration may influence coronary artery disease (CAD) risk. The complement factor H (CFH) HH variant showed a potential association with increased CAD, while LOC387715 variants may also play a role.
Area of Science:
- Genetics and Cardiovascular Research
- Ophthalmology and Cardiology Linkages
Background:
- Age-related macular degeneration (AMD) is a leading cause of vision loss.
- Coronary artery disease (CAD) is a major cause of mortality worldwide.
- Genetic factors are implicated in both AMD and CAD, suggesting potential shared pathways.
Purpose of the Study:
- To investigate the association between specific gene variants known to be associated with AMD and the risk of developing CAD.
- To determine if the Y402H variant of the complement factor H (CFH) gene and the A69S variant of the LOC387715 gene locus are independently associated with CAD.
Main Methods:
- Study included 493 patients undergoing coronary angiography.
- Genotyping for CFH Y402H and LOC387715 A69S variants using restriction fragment length polymorphism.
- Logistic regression analysis was employed to assess the association with CAD, adjusting for known CAD risk factors.
Main Results:
- The CFH genotype showed a trend towards association with CAD (P=.08).
- The CFH HH genotype (homozygous histidine variant) was associated with an increased risk of CAD (OR, 1.95; 95% CI, 1.01-3.76; P=.046).
- The LOC387715 genotype did not show a statistically significant overall association with CAD (P=.06), but heterozygosity for the serine variant was associated with a reduced risk (OR, 0.59; 95% CI, 0.38-0.91; P=.02).
Conclusions:
- The CFH genotype may be independently associated with CAD, particularly the HH variant.
- The LOC387715 gene locus might also contribute to CAD risk.
- Further research is warranted to elucidate the role of these gene variants in cardiovascular disease.
Objective:
To determine whether either of the gene variants associated with age-related macular degeneration is associated with coronary artery disease (CAD).
Patients And Methods:
This study consisted of 493 patients who underwent clinically indicated coronary angiography between June 1, 1998, and January 1, 1999. The Y402H variant of the complement factor H (CFH) gene and the A69S variant of the LOC387715 gene locus were examined by restriction fragment length polymorphism. Multiple logistic regression models were used to assess the association of CFH and LOC gene variants with CAD. Covariates with well-established associations with CAD were also evaluated.
Results:
Seventy patients (14%) were homozygous for the histidine variant (HH) of CFH, 237 (48%) were heterozygous for the histidine variant (HY), and 186 (38%) were homozygous for the tyrosine variant (YY). Three hundred eight patients (62%) were homozygous for the alanine allele of LOC387715, 170 (34%) were heterozygous for Ala and Ser alleles, and 15 (3%) were homozygous for the serine variant. The overall association of the CFH genotype with CAD was not statistically significant (P=.08). However, some evidence (P=-.046) suggested that CAD was increased for the HH genotype compared to the homozygous wild-type YY genotype (odds ratio, 1.95; 95% confidence interval, 1.01-3.76). Male sex, hypertension, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, and age were other variables that demonstrated significant associations with CAD. The overall effect of the LOC genotype was not statistically significant (P=-.06). Heterozygosity for the serine variant was (P=-.02) associated with the absence of CAD vs the AS genotype (odds ratio, 0.59; confidence interval, 0.38-0.91; P=-.02).
Conclusion:
The CFH genotype may have an independent association with CAD, although our evidence did not show statistical significance. Controlling for known risk factors, the age-related macular degeneration-associated HH variant appears to be associated with CAD. The LOC387715 gene may also play a role in CAD.
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