Multivariate analysis for coronary heart disease in heterozygote familial hypercholesterolemia patients

Area of Science:

• Genetics
• Cardiovascular Disease
• Metabolic Disorders

Background:

• The rs599839 polymorphism is associated with lower cholesterol levels and reduced risk of coronary heart disease (CHD).
• Familial hypercholesterolemia (HeFH) is a genetic disorder characterized by very high cholesterol levels and increased cardiovascular risk.

Purpose of the Study:

• To investigate the frequency of the rs599839 polymorphism in Spanish patients with heterozygous familial hypercholesterolemia (HeFH).
• To determine the association between the rs599839 polymorphism and the presence of CHD in HeFH patients.

Main Methods:

• A cohort study was conducted on 432 Spanish HeFH patients (230 with CHD, 202 without CHD).
• Genotyping for the rs599839 polymorphism was performed.
• Allele frequencies were compared between HeFH patients with and without CHD.
• Multivariate analysis was used to assess the association between rs599839 alleles and CHD, adjusting for other factors.

Main Results:

• A lower prevalence of the G-allele of rs599839 was observed in HeFH patients with CHD (35%) compared to those without CHD (45%), suggesting a potential protective effect (p=0.029).
• However, multivariate analysis revealed no significant association between rs599839 alleles and CHD in this cohort.
• The study suggests that the protective role of the G-allele may be masked by the very high cholesterol levels characteristic of HeFH.

Conclusions:

• The frequency of the protective G-allele of the rs599839 polymorphism was lower in HeFH patients with CHD.
• The association between rs599839 and CHD in HeFH patients might be confounded by extremely high cholesterol levels.
• Further research is needed to elucidate the role of rs599839 in the context of severe hypercholesterolemia.