Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
Potential regulatory SNPs in the ATXN7L3B and KRT15 genes are associated with gender-specific colorectal cancer risk. / Leberfarb, Elena Yu; Degtyareva, Arina O.; Brusentsov, Ilya I. и др.
в: Personalized Medicine, Том 17, № 1, 01.2020, стр. 43-54.Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
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TY - JOUR
T1 - Potential regulatory SNPs in the ATXN7L3B and KRT15 genes are associated with gender-specific colorectal cancer risk
AU - Leberfarb, Elena Yu
AU - Degtyareva, Arina O.
AU - Brusentsov, Ilya I.
AU - Maximov, Vladimir N.
AU - Voevoda, Mikhail I.
AU - Autenshlus, Alexander I.
AU - Morozov, Dmitriy V.
AU - Sokolov, Andrey V.
AU - Merkulova, Tatiana I.
N1 - Publisher Copyright: © 2020 Future Medicine Ltd. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/1
Y1 - 2020/1
N2 - Aim: According to the current data, a major factor for phenotypic variation of complex traits and disease susceptibility is the cis-acting effects of noncoding variants on gene expression. Our purpose was to evaluate the association between colorectal cancer (CRC) and six single nucleotide polymorphisms identified using our original bioinformatics approach as regulatory and putatively related to CRC. Materials: One hundred and sixty CRC patients and 185 healthy controls have been genotyped for rs590352, rs2072580, rs78317230, rs3829202, rs11542583 and rs4796672. Results: Genotypes and alleles distributions of rs590352 of ATXN7L3B gene were significantly different between the male CRC subjects and controls. Significant correlation of genotype with CRC is observable for women only for the rs4796672 of KRT15 gene. Analysis of haplotypes reveals that rs2072580 of the ISCU and SART3 genes can be also associated with CRC. Conclusion: We have identified three SNPs associated with CRC risk and demonstrated a gender specificity of rs590352 and rs4796672.
AB - Aim: According to the current data, a major factor for phenotypic variation of complex traits and disease susceptibility is the cis-acting effects of noncoding variants on gene expression. Our purpose was to evaluate the association between colorectal cancer (CRC) and six single nucleotide polymorphisms identified using our original bioinformatics approach as regulatory and putatively related to CRC. Materials: One hundred and sixty CRC patients and 185 healthy controls have been genotyped for rs590352, rs2072580, rs78317230, rs3829202, rs11542583 and rs4796672. Results: Genotypes and alleles distributions of rs590352 of ATXN7L3B gene were significantly different between the male CRC subjects and controls. Significant correlation of genotype with CRC is observable for women only for the rs4796672 of KRT15 gene. Analysis of haplotypes reveals that rs2072580 of the ISCU and SART3 genes can be also associated with CRC. Conclusion: We have identified three SNPs associated with CRC risk and demonstrated a gender specificity of rs590352 and rs4796672.
KW - association
KW - ATXN7L3B
KW - colorectal cancer
KW - gender-specific
KW - ISCU
KW - KRT15
KW - odds ratio
KW - rSNPs
KW - Russian residents of novosibirsk
KW - SART3
UR - http://www.scopus.com/inward/record.url?scp=85076876563&partnerID=8YFLogxK
U2 - 10.2217/pme-2019-0059
DO - 10.2217/pme-2019-0059
M3 - Article
C2 - 31797724
AN - SCOPUS:85076876563
VL - 17
SP - 43
EP - 54
JO - Personalized Medicine
JF - Personalized Medicine
SN - 1741-0541
IS - 1
ER -
ID: 22996798