Top SNPs from the phenome-wide association study catalog and the risk of varicose veins of lower extremities : A replication study. / Shadrina, Alexandra; Smetanina, Mariya; Sokolova, Ekaterina et al.
In: Meta Gene, Vol. 12, 01.06.2017, p. 47-49.Research output: Contribution to journal › Article › peer-review
}
TY - JOUR
T1 - Top SNPs from the phenome-wide association study catalog and the risk of varicose veins of lower extremities
T2 - A replication study
AU - Shadrina, Alexandra
AU - Smetanina, Mariya
AU - Sokolova, Ekaterina
AU - Sevost'ianova, Kseniya
AU - Shevela, Andrey
AU - Seliverstov, Evgenii I.
AU - Zakharova, Elena
AU - Ilyukhin, Evgeny A.
AU - Voronina, Elena
AU - Makarov, Dmitry
AU - Kirienko, Alexander
AU - Zolotukhin, Igor A.
AU - Filipenko, Maxim
N1 - Publisher Copyright: © 2017 Elsevier B.V.
PY - 2017/6/1
Y1 - 2017/6/1
N2 - Varicose veins are the most common venous pathology of lower limbs. A strong body of evidence indicates a prominent role of heredity in the development of this condition, but genetic factors influencing its risk are still poorly investigated. Phenome-wide association study (PheWAS) is a novel approach to discovering associations between genetic polymorphism and multiple phenotypes. The results of the largest PheWAS today are included in the PheWAS catalog, which contains the associations with a variety of phenotypes including varicose veins of lower extremities. In our study we aimed to replicate top 5 associations from the PheWAS catalog in the population of ethnic Russians. We determined the genotypes of polymorphisms rs735854, rs7023329, rs2857595, rs6420094, and rs16856202 in the sample of 460 patients with primary varicose veins of lower extremities and 646 control subjects without a history of chronic venous disease. Though we had enough statistical power to validate the reported associations, no evidence for statistical significant association was revealed in our study. We can speculate that either these polymorphisms have no effect on the risk of varicose veins, or their effects can be modulated by currently uninvestigated ethnic, environmental or lifestyle factors.
AB - Varicose veins are the most common venous pathology of lower limbs. A strong body of evidence indicates a prominent role of heredity in the development of this condition, but genetic factors influencing its risk are still poorly investigated. Phenome-wide association study (PheWAS) is a novel approach to discovering associations between genetic polymorphism and multiple phenotypes. The results of the largest PheWAS today are included in the PheWAS catalog, which contains the associations with a variety of phenotypes including varicose veins of lower extremities. In our study we aimed to replicate top 5 associations from the PheWAS catalog in the population of ethnic Russians. We determined the genotypes of polymorphisms rs735854, rs7023329, rs2857595, rs6420094, and rs16856202 in the sample of 460 patients with primary varicose veins of lower extremities and 646 control subjects without a history of chronic venous disease. Though we had enough statistical power to validate the reported associations, no evidence for statistical significant association was revealed in our study. We can speculate that either these polymorphisms have no effect on the risk of varicose veins, or their effects can be modulated by currently uninvestigated ethnic, environmental or lifestyle factors.
KW - Phenome-wide association study
KW - Polymorphism
KW - Varicose veins
KW - DISORDERS
UR - http://www.scopus.com/inward/record.url?scp=85010187500&partnerID=8YFLogxK
U2 - 10.1016/j.mgene.2017.01.005
DO - 10.1016/j.mgene.2017.01.005
M3 - Article
AN - SCOPUS:85010187500
VL - 12
SP - 47
EP - 49
JO - Meta Gene
JF - Meta Gene
SN - 2214-5400
ER -
ID: 9133373