<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>We studied the association between coronary artery disease (CAD) and polymorphisms of the <italic>ABCA1, ACE, AGT, eNOS</italic> and <italic>EFNB3</italic> genes in 85 Russian patients with angiography-proven CAD and 100 of their siblings. No gene analyzed had a z-score value of more than 2.47 for CAD or for its main clinical presentations due to sibling transmission/disequilibrium test (S-TDT). However, the DD genotype of <italic>ACE</italic> is significantly more prevalent in siblings with CAD [<italic>p</italic> = 0.025, relative risk <italic>(RR)</italic> 2.8], angina (<italic>p</italic> = 0.028, <italic>RR</italic> = 3.3) and myocardial infarction (MI) (<italic>p</italic> = 0.018, <italic>RR</italic> = 5.5). An increased risk of CAD, and its main manifestations, was associated with the R1587 allele of the <italic>ABCA1</italic> gene: the <italic>RR</italic> for developing CAD was 4.88, for MI 6.18, and for angina 3.69 for siblings who were carriers of the R1587R and R1587K genotypes. Index of stenosis was significantly higher in probands with the K219K and R219K genotypes (<italic>p</italic> = 0.001). The combination of genotype K219K with R219K was more frequent among siblings with CAD (<italic>p</italic> = 0.044, <italic>RR</italic> = 2.38), arterial hypertension (<italic>p</italic> = 0.023, <italic>RR</italic> = 2.87) and angina (<italic>p</italic> = 0.027, <italic>RR</italic> = 3.3). Thus, none of the genes studied can be considered as the main gene associated with CAD. However, the insertion/deletion (I/D) polymorphism of the <italic>ACE</italic> gene and the R219K and R1587K variants of <italic>ABCA1</italic> are associated with a higher likelihood of developing CAD, MI and angina among Russians who have siblings affected by CAD.</p></abstract>

We studied the association between coronary artery disease (CAD) and polymorphisms of the ABCA1, ACE, AGT, eNOS and EFNB3 genes in 85 Russian patients with angiography-proven CAD and 100 of their siblings. No gene analyzed had a z-score value of more than 2.47 for CAD or for its main clinical presentations due to sibling transmission/disequilibrium test (S-TDT). However, the DD genotype of ACE is significantly more prevalent in siblings with CAD [p = 0.025, relative risk (RR) 2.8], angina (p = 0.028, RR = 3.3) and myocardial infarction (MI) (p = 0.018, RR = 5.5). An increased risk of CAD, and its main manifestations, was associated with the R1587 allele of the ABCA1 gene: the RR for developing CAD was 4.88, for MI 6.18, and for angina 3.69 for siblings who were carriers of the R1587R and R1587K genotypes. Index of stenosis was significantly higher in probands with the K219K and R219K genotypes (p = 0.001). The combination of genotype K219K with R219K was more frequent among siblings with CAD (p = 0.044, RR = 2.38), arterial hypertension (p = 0.023, RR = 2.87) and angina (p = 0.027, RR = 3.3). Thus, none of the genes studied can be considered as the main gene associated with CAD. However, the insertion/deletion (I/D) polymorphism of the ACE gene and the R219K and R1587K variants of ABCA1 are associated with a higher likelihood of developing CAD, MI and angina among Russians who have siblings affected by CAD.

Linkage Analysis by a Transmission/Disequilibrium Test of Russian Sibling Pairs with Coronary Artery Disease

Institute of Molecular Genetics of Russian Academy of Sciences, Moscow, Russia

National Research Center for Preventive Medicine, Moscow, Russia

Balkan Journal of Medical Genetics

We studied the association between coronary artery disease (CAD) and polymorphisms of the ABCA1, ACE, AGT, eNOS and EFNB3 genes in 85 Russian patients with...

Linkage Analysis by a Transmission/Disequilibrium Test of Russian Sibling Pairs with Coronary Artery Disease

Publicado en línea: 30 may 2008

Páginas: 43 - 54

DOI: https://doi.org/10.2478/v10034-008-0006-0

Palabras clave
Candidate genes, Coronary artery disease (CAD), Polymorphism, Risk factor, Siblings, Transmission/disequilibrium test

This content is open access.

Linkage Analysis by a Transmission/Disequilibrium Test of Russian Sibling Pairs with Coronary Artery Disease

Publicado en línea: 30 may 2008

Páginas: 43 - 54

DOI: https://doi.org/10.2478/v10034-008-0006-0

Palabras claveCandidate genes, Coronary artery disease (CAD), Polymorphism, Risk factor, Siblings, Transmission/disequilibrium test

This content is open access.

Palabras clave
Candidate genes, Coronary artery disease (CAD), Polymorphism, Risk factor, Siblings, Transmission/disequilibrium test