Abstract
Vitamin D deficiency has been associated with depressive symptoms and reduced physical functioning. The aim of the study was to characterize the relationship between polymorphisms of the vitamin D receptor (VDR) gene and the quality of life in patients with autoimmune hepatitis (AIH) and primary biliary cholangitis (PBC). Three polymorphisms of the VDR gene (TaqI-rs731236, BsmI-rs1544410, and ApaI-rs7975232) were analyzed in patients with AIH (n = 142) and PBC (n = 230) and in healthy individuals (n = 376). Patient quality of life was assessed by validated questionnaires such as Medical Outcomes Study Short-Form 36 (SF-36), State Trait Anxiety Inventory (STAI), Modified Fatigue-Impact Scale (MFIS), Patient-Health Questionnaire 9 (PHQ-9), and PBC-40. The TaqI C and ApaI A alleles are risk alleles in both AIH and PBC, and a significant dominance of the A allele in BsmI was observed in AIH patients. In terms of quality of life, the presence of the CC or CT TaqI genotype was associated with emotional reactions, including the fatigue and the cognitive skills of patients with PBC, whereas in the group of AIH patients, homozygotes CC of TaqI, AA of BsmI, and AA of ApaI had worse physical, social, emotional, and mental function. The genetic variations of VDR gene can influence individual susceptibility to develop chronic autoimmune liver diseases such as AIH and PBC and affect quality of life.
Highlights
Autoimmune liver diseases, such as primary biliary cholangitis (PBC) and autoimmune hepatitis (AIH), have complex etiologies and are characterized by the progressive destruction of liver structures through autoimmunity mechanisms [1,2]
In patients with PBC [19], the clinical symptoms of patients with PBC and AIH [20,21], and reports on the protective effect of vitamin D on vessels and nerves, the aims of this study were characterizing the relationship between vitamin D receptor (VDR) gene polymorphisms
The frequencies of all three VDR polymorphisms investigated in patients with PBC or AIH showed significant differences in comparison to the control group
Summary
Autoimmune liver diseases, such as primary biliary cholangitis (PBC) and autoimmune hepatitis (AIH), have complex etiologies and are characterized by the progressive destruction of liver structures through autoimmunity mechanisms [1,2]. The vast majority of patients with PBC (80%–90%) are women [3]. The reaction between antimitochondrial antibodies (AMA) and pyruvate dehydrogenase complex-E2 (PDC-E2), located in the inner mitochondrial membrane, underlies the pathogenesis of PBC [4]. The most common clinical symptoms are persistent pruritus and chronic fatigue; a substantial percentage of patients may experience no symptoms of liver disease [1]. The disease is characterized by bile-duct damage leading to chronic cholestasis, progressive fibrosis, and liver cirrhosis [3]
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