ApaI polymorphism of vitamin D receptor affects health-related quality of life in patients with primary sclerosing cholangitis.

ABSTRACT:

Background

Polymorphisms of vitamin D receptor (VDR) contribute to the pathogenesis of multiple autoimmune conditions.

Methods

We investigated the incidence of VDR polymorphisms (rs1544410-BsmI; rs7975232-ApaI; rs731236-TaqI) in a group of patients with primary sclerosing cholangitis (PSC, n = 275) and in healthy controls (n = 376). Additionally, correlations of the VDR polymorphisms with clinical and biochemical factors of the disease were analysed.

Results

The genotype and allele distributions of these polymorphisms in PSC patients were similar to those observed in controls. However, the ApaI polymorphism was associated with an impaired health-related quality of life (HRQoL). The generic SF-36 questionnaire showed that the Role-Physical (p = 0.01), Role-Emotional (p

SUBMITTER: Kempinska-Podhorodecka A 

PROVIDER: S-EPMC5398696 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature