Raszeja-Wyszomirska Joanna, Wunsch Ewa, Kempinska-Podhorodecka Agnieszka, Smyk Daniel S, Bogdanos Dimitrios P, Milkiewicz Malgorzata, Milkiewicz Piotr
Liver Research Laboratories, Pomeranian Medical University, Aleja Powstańców Wielkopolskich 72, 70-111 Szczecin, Poland.
Clin Dev Immunol. 2013;2013:510547. doi: 10.1155/2013/510547. Epub 2013 Apr 28.
Previous studies reported associations between specific alleles of non-HLA immunoregulatory genes and higher fatigue scores in patients with primary biliary cirrhosis (PBC).
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.
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.
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.
The association between rs2900180 and rs3761847 polymorphisms and HRQoL variables indicates that TRAF1 is involved in the induction of impaired QoL in PBC.
既往研究报道,原发性胆汁性肝硬化(PBC)患者中,非HLA免疫调节基因的特定等位基因与较高的疲劳评分相关。
研究肿瘤坏死因子受体家族成员TRAF1 - C5的单核苷酸多态性与健康相关生活质量(HRQoL)变量之间的关系。
对120例白种人PBC患者的TRAF1 - C5基因多态性rs2900180和rs3761847进行分析。采用SF - 36、PBC - 40和PBC - 27问卷评估HRQoL。
我们发现rs2900180的TT基因型与SF - 36的活力领域(P < 0.05)、心理健康(P < 0.05)以及心理成分综合评分(P < 0.05)之间存在负相关。rs3761847的GG纯合子活力较低(P < 0.05)、心理健康较差(P < 0.05)、心理成分综合评分较低(P < 0.05)且社会功能受损(P < 0.01)。等位基因分析表明,rs2900180的T等位基因和rs3761847的G等位基因分别与SF - 36的活力(P < 0.05和P < 0.01)、社会功能(P < 0.05和P < 0.05)、心理健康(P < 0.01和P < 0.05)以及心理成分综合评分(P < 0.01和P < 0.05)相关。基因分型和等位基因分析未显示与PBC - 40和PBC - 27领域存在相关性。
rs2900180和rs3761847多态性与HRQoL变量之间的关联表明,TRAF1参与了PBC患者生活质量受损的诱导过程。