TRAF1-C5Affects Quality of Life in Patients with Primary Biliary Cirrhosis

Abstract

Background. Previous studies reported associations between specific alleles of non-HLA immunoregulatory genes and higher fatigue scores in patients with primary biliary cirrhosis (PBC). Aim. To study the relationship between variables of health-related quality of life (HRQoL) and single nucleotide polymorphisms of TRAF1-C5, a member of the tumor necrosis factor receptor family. Patients and Methods. TRAF1-C5 gene polymorphisms, rs2900180 and rs3761847, were analysed in 120 Caucasian PBCs. The HRQoL was assessed with SF-36, PBC-40, and PBC-27 questionnaires. Results. We found a negative association between TT genotype of rs2900180 and SF-36's domains vitality (P < 0.05), mental health (P < 0.05), and mental component summary score (P < 0.05). GG homozygotes of rs3761847 had lower vitality (P < 0.05), mental health (P < 0.05), mental component summary score (P < 0.05) and impairment of social functioning (P < 0.01). Allelic analysis has shown that T allele of rs2900180 and G allele of rs3761847 related to SF-36's vitality (P < 0.05 and P < 0.01), social functioning (P < 0.05 and P < 0.05), mental health (P < 0.01 and P < 0.05), and mental component summary score (P < 0.01 and P < 0.05), respectively. Genotyping and allelic analysis did not reveal correlation with PBC-40 and PBC-27 domains. Conclusion. The association between rs2900180 and rs3761847 polymorphisms and HRQoL variables indicates that TRAF1 is involved in the induction of impaired QoL in PBC.

Autoimmune hepatitis exerts a profound, negative effect on health‐related quality of life: A prospective, single‐centre study

“…We have a long‐lasting interest in HRQoL in chronic cholestatic autoimmune conditions and in patients after liver transplantation . In this present study, we focused on HRQoL in a large and homogenous group of Caucasian patients with AIH treated in our centre.…”

“…Also depression, with scores of more than 10 in PHQ-9 questionnaires was found in We have a long-lasting interest in HRQoL in chronic cholestatic autoimmune conditions and in patients after liver transplantation. 29,[33][34][35][36][37][38] In this present study, we focused on HRQoL in a large and homogenous group of Caucasian patients with AIH treated in our centre. In order to obtain a reliable picture of the problem, we selected a number of questionnaires tackling the most important issues of potential influence on patients everyday well-being.…”

Integrative Review of Co‐Occurring Symptoms Across Etiologies of Chronic Liver Disease and Implications for Symptom Management Research and Practice

“…These were incorporated into the conceptual model as individual and disease‐specific factors (see Figure ). Further study of the mechanisms related to symptom clusters may inform the identification of subgroups, as demonstrated by higher fatigue and lower vitality scores in patients with PBC who had polymorphisms of the CTLA4 and TRAF1‐C5 genes (Donaldson et al., ; Raszeja‐Wyszomirska et al., ). With the increasing use of genetic data to guide therapy in patients with CLD, genetic variations may be linked with longitudinal symptom data.…”

“…The PBC‐40, a disease‐specific instrument developed for patients with primary biliary cirrhosis that includes six domains (social, fatigue, cognitive, emotion, itch, and symptom impact), was used in seven studies. Other studies used a symptom checklist (Dan et al., ; Hann et al., ; Kistler et al., ; Lang et al., ) or domains of the Short Form‐36 (SF‐36) Health Survey (David et al., ; Quarantini et al., ; Raszeja‐Wyszomirska et al., ; Teuber et al., ; Weissenborn et al., ). Fatigue was measured using the Fatigue Impact Scale (Jones et al., ; Lowry, Coughlan, McCarthy, & Crowe, ; McDonald, Newton, Lai, Baker, & Jones, ; Newton, Hudson, et al., 2007; Newton, Jones, et al., 2008; Teuber et al., ).…”

“…Donaldson and colleagues () reported significant trends between higher fatigue scores in individuals with PBC who had a polymorphism of the CTLA4 gene. Polymorphisms of TRAF1‐C5, a member of the tumor necrosis factor receptor family, was negatively associated with vitality but was not correlated with fatigue in individuals with PBC (Raszeja‐Wyszomirska et al., ).…”