RTN4 AND FBXL17 GENES ARE ASSOCIATED WITH
CORONARY HEART DISEASE IN GENOME-WIDE
ASSOCIATION ANALYSIS OF LITHUANIAN FAMILIES
Domarkienė I1,*, Pranculis A1, Germanas Š1, Jakaitienė A1,
Vitkus D2, Dženkevičiūtė V3, Kučinskienė ZA2, Kučinskas V1
*Corresponding Author: Ingrida Domarkienė, Department of Human and Medical Genetics, Faculty of Medicine,
Vilnius University, Santariškių str. 2, 08661 Vilnius, Lithuania; Tel.: +370-52501788; E-mail: ingrida.domarkiene@
mf.vu.lt
page: 17
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INTRODUCTION
Coronary heart disease (CHD), also called coronary
artery disease, is a complex and heterogeneous
cardiovascular disease (CVD). It belongs to a group of
atherosclerotic CVD that is defined as a chronic disorder
which develops insidiously throughout life and
usually progresses to an advanced stage by the time
symptoms occur [1]. The critical underlying process
of pathogenesis is atherosclerosis (AS) that, in itself,
is a multifactorial and peculiar condition. There are
a number of known controllable and uncontrollable
factors, one of the last-mentioned is genetic, named
as strong family history of premature CVD [2]. There
are many genome-wide association studies (GWAS)
performed worldwide to determine the main genetic
factors that could be used for CVD identification and
creation of useful tests for effective diagnosis, prognosis
and treatment. Regrettably, the genetic factors
and their importance are not yet sufficiently applied
in clinical practice [1]. Moreover each population
may have some exceptional genetic characteristic that
does not necessarily correspond with results from
other studies.
The background of our study is from the previous
Linkoping-Vilnius CHD risk assessment study [3],
which demonstrated the differences of atherosclerotic
process between Lithuanian and Swedish male individuals.
Subsequently, other study aimed to identify potential
genetic markers associated with AS and CHD in the
Lithuanian population [4]. The results lacked significant
values for strong association of single nucleotide polymorphisms
(SNPs) and disease. Novel genotyping techniques
and platforms provided an improved opportunity
for a more precise analysis of whole genome variation
associated with human complex diseases. Thus, in this
study we performed the GWAS in 32 families of Lithuanian
ethnicity in search of significant genetic markers
(SNPs) of CHD that may elucidate the underlying
specificity of AS in this population.
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