Sherrington Colin A, Knuiman Matthew W, Divitini Mark L, Bartholomew Helen C, Cullen Digby J, Olynyk John K
Department of Gastroenterology, Fremantle Hospital, Fremantle, Western Australia, Australia.
J Gastroenterol Hepatol. 2006 Mar;21(3):595-8. doi: 10.1111/j.1440-1746.2006.04062.x.
Mutations in the hemochromatosis (HFE) gene are carried by one in three individuals of British Isles descent and may result in increased iron stores. These increased iron stores could potentially induce or exacerbate diseases, such as arthritis, in which iron has a role in pathogenesis. Although arthritis is a well-known association of clinically overt hereditary hemochromatosis, controversy surrounds the role of mutations in the HFE gene as risk factors for arthritis. The aim of the present study was to determine whether mutations in the HFE gene are associated with an increased prevalence of arthritis.
A population-based study was conducted in Busselton, Western Australia, of the prevalence of arthritis in 1372 individuals of British Isles descent. Participants completed a questionnaire and general physical examination. Analysis for C282Y and H63D HFE mutations was undertaken. Unadjusted and adjusted odds ratios (OR) were calculated for the relationship between HFE mutations and the prevalence of self-reported, doctor-diagnosed arthritis.
There was no association between the presence of HFE mutations and the prevalence of self-reported, doctor-diagnosed arthritis (C282Y/wild type (WT) adjusted OR = 1.041 (95% confidence interval (CI) 0.68-1.61), H63D/WT OR = 0.76 (95% CI 0.53-1.08), C282Y/C282Y OR = 0.39 (95% CI 0.04-3.63), C282Y/H 63D OR = 0.808 (95% CI 0.27-2.42), H63D/H63D OR = 0.419 (95% CI 0.13-1.36)). Overall adjusted OR for arthritis in participants with one or more HFE mutations was 0.81 (95% CI 0.61-1.09).
Mutations of the HFE gene are not risk factors for arthritis in populations of British Isles descent.
在英伦诸岛后裔中，每三人中就有一人携带血色素沉着症（HFE）基因突变，该突变可能导致铁储存增加。这些增加的铁储存可能会诱发或加重某些疾病，如关节炎，铁在其发病机制中起作用。虽然关节炎是临床显性遗传性血色素沉着症的一个众所周知的关联病症，但围绕HFE基因突变作为关节炎风险因素的作用仍存在争议。本研究的目的是确定HFE基因突变是否与关节炎患病率增加有关。
在西澳大利亚州的巴瑟尔顿进行了一项基于人群的研究，调查了1372名英伦诸岛后裔的关节炎患病率。参与者完成了一份问卷和一般体格检查。对C282Y和H63D HFE基因突变进行了分析。计算了HFE基因突变与自我报告的、医生诊断的关节炎患病率之间关系的未调整和调整后的优势比（OR）。
HFE基因突变的存在与自我报告的、医生诊断的关节炎患病率之间没有关联（C282Y/野生型（WT）调整后的OR = 1.041（95%置信区间（CI）0.68 - 1.61），H63D/WT的OR = 0.76（95%CI 0.53 - 1.08），C282Y/C282Y的OR = 0.39（95%CI 0.04 - 3.63），C282Y/H63D的OR = 0.808（95%CI 0.27 - 2.42），H63D/H63D的OR = 0.419（95%CI 0.13 - 1.36））。有一个或多个HFE基因突变的参与者患关节炎的总体调整后OR为0.81（95%CI 0.61 - 1.09）。
在英伦诸岛后裔人群中，HFE基因突变不是关节炎的风险因素。
