ASSOCIATION OF SINGLE NUCLEOTIDE POLYMORPHISMS RS61999948, RS7172856 WITH SUDDEN CARDIAC DEATH
A.A. Ivanova1, V.N. Maksimov1, S.K. Malyutina1, V.P. Novoselov2, I.A. Rodina2, O.V. Hamovich2, M.I. Voevoda1
1Research Institute of Internal and Preventive Medicine - Branch of Federal Research Center Institute of Cytology and Genetics of SB RAS, 630089, Novosibirsk, Boris Bogatkov str., 175/1
2Novosibirsk Regional Clinical Bureau of Forensic Medicine, 630087, Novosibirsk, Nemirovich-Danchenko str., 134
Keywords: sudden cardiac death, single nucleotide polymorphism, rs7172856, rs61999948, genome-wide allelotyping
Abstract
The aim of the research is to verify the association with sudden cardiac death (SCD) of single nucleotide polymorphisms rs7172856 and rs61999948, identified as new molecular genetic markers of SCD in the own genome-wide pooled allelotyping. Material and methods. Case-control study. The SCD group is formed using the criteria of the European Society of Cardiology from the DNA bank of suddenly deceased residents of the Oktyabrsky district of Novosibirsk (n = 437, average age - 53.1±9.0 years, men - 73.5 %, women - 26.5 %) The control group (n = 405, average age 53.2±9.2 years, men - 70.0 %, women - 30.0 %) is formed from the DNA bank of participants of MONICA and HAPIEE projects. DNA was isolated by phenol-chloroform extraction from myocardial tissue in the SCD group and venous blood in the control group. Genotyping was performed by the PCR-RFLP method. Results. No statistical significance was found in allele and genotype frequencies of rs7172856 between groups, even in separating in sex and age (p > 0.05). The proportion of male carriers of the TT genotype rs61999948 in the SCD group (6.3 %) is statistically significantly less than the proportion of male carriers of the TT genotype rs61999948 in the control group (12.6 %) (OR = 0.47, 95 % CI 0.26-0.85, p = 0.011). The identified significance is reserved in the group under 50 years old (p = 0.007) and in the group of men under 50 years old (p = 0.002). The proportion of carriers of the CC genotype rs61999948 is statistically significantly higher in the SCD group (59.0 %) compared with the control group (42.5 %) (OR = 1.94, 95 % CI 1.21-3.12, p = 0.006) for people under 50 years old. The identified association of the CC genotype with the SCD is reserved in the group of men under 50 years old (p = 0.001). Conclusions. Single nucleotide polymorphism rs7172856 is not associated with SCD. The TT genotype of the single nucleotide polymorphism rs61999948 is associated with a protective effect against SCD and the CC genotype of rs61999948 is associated with an increased risk of SCD for men under 50 years old.
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