Association of polymorphisms KCNN2 and NOS1AP with sudden cardiac death

Aim. Assessment of the associations of mononucleotide polymorphisms (MNP) of genes: KCNN2 (rs13184658, rs10076582, rs338625) and NOS1AP (rs12567209, rs348624, rs3751284, rs 12143842), with sudden cardiac death (SCD), and evaluation of the clutch units.Material and methods. The study designed as a ca...

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Main Authors: P. S. Orlov, D. Е. Ivanoshchuk, А. А. Ivanova, S. К. Malyutina, V. P. Novosyolov, М. I. Voevoda, V. N. Maximov
Format: Article
Language:Russian
Published: «FIRMA «SILICEA» LLC 2018-11-01
Series:Российский кардиологический журнал
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Online Access:https://russjcardiol.elpub.ru/jour/article/view/2959
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author P. S. Orlov
D. Е. Ivanoshchuk
А. А. Ivanova
S. К. Malyutina
V. P. Novosyolov
М. I. Voevoda
V. N. Maximov
author_facet P. S. Orlov
D. Е. Ivanoshchuk
А. А. Ivanova
S. К. Malyutina
V. P. Novosyolov
М. I. Voevoda
V. N. Maximov
author_sort P. S. Orlov
collection DOAJ
description Aim. Assessment of the associations of mononucleotide polymorphisms (MNP) of genes: KCNN2 (rs13184658, rs10076582, rs338625) and NOS1AP (rs12567209, rs348624, rs3751284, rs 12143842), with sudden cardiac death (SCD), and evaluation of the clutch units.Material and methods. The study designed as a case-control. Group of males, died SCD (n=278) was formed according with the European Cardiology Society criteria. The controls (n=274), matched by age and gender, was collected from DNA of international research projects MONICA and HAPIEE. Genomic sequencing was done with real time PCR. For inequation assessment of the clutch groups within the MNP pairs, the D’ coefficient was in use. Comparison of the groups by the rates of genotypes and alleles was done with a contingency tables and Chi-square by Pearson. Relative SCD risk was calculated as an odds ratio with Fischer criteria and Chi-square. The differences were noted as significant with p<0,05.Results. For the assessed MNPs gene NOS1AP the following significant differences in genotypes frequencies were found: rs12567209 GG vs AA+AG OR =1,76 (CI 1,07¬2,9) p=0,026, rs3751284 CC vs CC+TT OR =0,68 (CI 0,47-0,97) p=0,037, rs12143842 CC vs CT+TT OR =0,54 (CI 0,38-0,75) p=0,0004. For alleles of the gene NOS1AP the following significant differences were found: rs12567209 A vs G OR =0,58 (CI 0,36¬0,93) p=0,025 and rs12143842 С vs T OR =0,6 (CI 0,46-0,79) p=0,0004. In further assessment it was shown that the loci rs12143842 and rs12567209 are clutched (D’ =1). In evaluation of the clutch block for rs12143842 and rs12567209 the following was found: TG vs CG+CA OR =1,64 (CI 1,25-2,16) p=0,0004.Conclusion. MNPs (rs13184658, rs10076582, rs33862) of the gene KCNN2 and rs348624 gene NOS1AP, probably, does not play role in SCD in Novosibirsk population. rs12143842, rs12567209 and rs3751284 NOS1AP are associated with SCD. Further studies needed to assess rs12143842 and rs3751284 of gene NOS1AP, as the rs12567209 is clutched with rs12143842.
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spelling doaj-art-3fc7cffa27a94490a8758fb3578b65492025-08-20T03:57:26Zrus«FIRMA «SILICEA» LLCРоссийский кардиологический журнал1560-40712618-76202018-11-01010596310.15829/1560-4071-2018-10-59-632489Association of polymorphisms KCNN2 and NOS1AP with sudden cardiac deathP. S. Orlov0D. Е. Ivanoshchuk1А. А. Ivanova2S. К. Malyutina3V. P. Novosyolov4М. I. Voevoda5V. N. Maximov6SRI of Therapy and Prevention Medicine — branch of the Federal Research Center, Institute of Cytology and Genetics of SD RAS;Federal Research Center Institute of Cytology and Genetics of SD RAS; Novosibirskiy National Research State UniversitySRI of Therapy and Prevention Medicine — branch of the Federal Research Center, Institute of Cytology and Genetics of SD RAS;Federal Research Center Institute of Cytology and Genetics of SD RAS; Novosibirskiy National Research State UniversitySRI of Therapy and Prevention Medicine — branch of the Federal Research Center, Institute of Cytology and Genetics of SD RASSRI of Therapy and Prevention Medicine — branch of the Federal Research Center, Institute of Cytology and Genetics of SD RASNovosibirsk Regional Clinical Bureau of Forensic MedicineSRI of Therapy and Prevention Medicine — branch of the Federal Research Center, Institute of Cytology and Genetics of SD RAS;Federal Research Center Institute of Cytology and Genetics of SD RAS; Novosibirskiy National Research State UniversitySRI of Therapy and Prevention Medicine — branch of the Federal Research Center, Institute of Cytology and Genetics of SD RAS;Federal Research Center Institute of Cytology and Genetics of SD RAS; Novosibirskiy National Research State UniversityAim. Assessment of the associations of mononucleotide polymorphisms (MNP) of genes: KCNN2 (rs13184658, rs10076582, rs338625) and NOS1AP (rs12567209, rs348624, rs3751284, rs 12143842), with sudden cardiac death (SCD), and evaluation of the clutch units.Material and methods. The study designed as a case-control. Group of males, died SCD (n=278) was formed according with the European Cardiology Society criteria. The controls (n=274), matched by age and gender, was collected from DNA of international research projects MONICA and HAPIEE. Genomic sequencing was done with real time PCR. For inequation assessment of the clutch groups within the MNP pairs, the D’ coefficient was in use. Comparison of the groups by the rates of genotypes and alleles was done with a contingency tables and Chi-square by Pearson. Relative SCD risk was calculated as an odds ratio with Fischer criteria and Chi-square. The differences were noted as significant with p<0,05.Results. For the assessed MNPs gene NOS1AP the following significant differences in genotypes frequencies were found: rs12567209 GG vs AA+AG OR =1,76 (CI 1,07¬2,9) p=0,026, rs3751284 CC vs CC+TT OR =0,68 (CI 0,47-0,97) p=0,037, rs12143842 CC vs CT+TT OR =0,54 (CI 0,38-0,75) p=0,0004. For alleles of the gene NOS1AP the following significant differences were found: rs12567209 A vs G OR =0,58 (CI 0,36¬0,93) p=0,025 and rs12143842 С vs T OR =0,6 (CI 0,46-0,79) p=0,0004. In further assessment it was shown that the loci rs12143842 and rs12567209 are clutched (D’ =1). In evaluation of the clutch block for rs12143842 and rs12567209 the following was found: TG vs CG+CA OR =1,64 (CI 1,25-2,16) p=0,0004.Conclusion. MNPs (rs13184658, rs10076582, rs33862) of the gene KCNN2 and rs348624 gene NOS1AP, probably, does not play role in SCD in Novosibirsk population. rs12143842, rs12567209 and rs3751284 NOS1AP are associated with SCD. Further studies needed to assess rs12143842 and rs3751284 of gene NOS1AP, as the rs12567209 is clutched with rs12143842.https://russjcardiol.elpub.ru/jour/article/view/2959sudden cardiac deathkcnn2nos1apmnprs 13184658rs10076582rs338625rs12567209rs348624rs3751284rs12143842
spellingShingle P. S. Orlov
D. Е. Ivanoshchuk
А. А. Ivanova
S. К. Malyutina
V. P. Novosyolov
М. I. Voevoda
V. N. Maximov
Association of polymorphisms KCNN2 and NOS1AP with sudden cardiac death
Российский кардиологический журнал
sudden cardiac death
kcnn2
nos1ap
mnp
rs 13184658
rs10076582
rs338625
rs12567209
rs348624
rs3751284
rs12143842
title Association of polymorphisms KCNN2 and NOS1AP with sudden cardiac death
title_full Association of polymorphisms KCNN2 and NOS1AP with sudden cardiac death
title_fullStr Association of polymorphisms KCNN2 and NOS1AP with sudden cardiac death
title_full_unstemmed Association of polymorphisms KCNN2 and NOS1AP with sudden cardiac death
title_short Association of polymorphisms KCNN2 and NOS1AP with sudden cardiac death
title_sort association of polymorphisms kcnn2 and nos1ap with sudden cardiac death
topic sudden cardiac death
kcnn2
nos1ap
mnp
rs 13184658
rs10076582
rs338625
rs12567209
rs348624
rs3751284
rs12143842
url https://russjcardiol.elpub.ru/jour/article/view/2959
work_keys_str_mv AT psorlov associationofpolymorphismskcnn2andnos1apwithsuddencardiacdeath
AT deivanoshchuk associationofpolymorphismskcnn2andnos1apwithsuddencardiacdeath
AT aaivanova associationofpolymorphismskcnn2andnos1apwithsuddencardiacdeath
AT skmalyutina associationofpolymorphismskcnn2andnos1apwithsuddencardiacdeath
AT vpnovosyolov associationofpolymorphismskcnn2andnos1apwithsuddencardiacdeath
AT mivoevoda associationofpolymorphismskcnn2andnos1apwithsuddencardiacdeath
AT vnmaximov associationofpolymorphismskcnn2andnos1apwithsuddencardiacdeath