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 download article in pdf format
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Abstract
Coronary heart disease (CHD) is a complex and
heterogeneous cardiovascular disease. There are many
genome-wide association studies (GWAS) performed
worldwide to extract the causative genetic factors.
Moreover, each population may have some exceptional
genetic characteristic. Thus, the background
of our study is from the previous Lithuanian studies
(the LiVicordia Project), which demonstrated the
differences of the atherosclerosis process between
Lithuanian and Swedish male individuals.
In this study we performed GWAS of 32 families
of Lithuanian origin in search of significant candidate
genetic markers [single nucleotide polymorphisms
(SNPs)] of CHD in this population. After careful
clinical and biochemical phenotype evaluation, the
~770K SNPs genotyping (Illumina HumanOmniExpress-
12 v1.0 array) and familial GWAS analyses
were performed.
Twelve SNPs were found to be significantly associated
with the CHD phenotype (p value <0.0001;
the power >0.65). The odds ratio (OR) values were
calculated. Two SNPs (rs17046570 in the RTN4 gene
and rs11743737 in the FBXL17 gene) stood out and
may prove to be important genetic factors for CHD
risk. Our results correspond with the findings in other
studies, and these two SNPs may be the susceptibility
loci for CHD.
Keywords: Atherosclerosis; Coronary heart
disease (CHD); Genome-wide association study(ies)
(GWAS); Transmission disequilibrium test (TDT).
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