LDLR gene polymorphism (rs688) affects susceptibility to cardiovascular disease in end-stage kidney disease patients

Autor: Monika Buraczynska, Jerry Jacob, Karolina Gwiazda-Tyndel, Andrzej Ksiazek
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: BMC Nephrology, Vol 22, Iss 1, Pp 1-7 (2021)
Druh dokumentu: article
ISSN: 1471-2369
DOI: 10.1186/s12882-021-02532-6
Popis: Abstract Background The low-density lipoprotein receptor (LDLR) plays a significant role in maintaining the cellular cholesterol homeostasis. Mutations in the LDLR gene can lead to a significant rise in plasma LDL levels that may result in an increased risk of atherosclerosis and coronary heart disease. The purpose of this study was to assess the potential association of the LDLR rs688 polymorphism with cardiovascular disease (CVD) in patients with end-stage kidney disease (ESKD) undergoing hemodialysis. Methods In this case-control study the polymorphism was genotyped by the allele specific PCR method in 800 patients with ESKD and 500 healthy controls. The genotype and allele distribution was compared in subgroups of patients with CVD (552) versus those without CVD (248). Results A significant difference was observed in genotype distribution among ESKD patients and healthy controls. The frequencies of the T allele and TT genotype in ESKD group were significantly higher, with OR (95% CI) 2.2 (1.87–2.6), p
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