Katchunga Philippe Bianga, Baguma Marius, M'buyamba-Kabangu Jean-René, Philippé Jan, Hermans Michel P, Delanghe Joris
Faculty of Medicine NCD's Observatory, Catholic University of Bukavu/VLIR-UOS, PO Box 235, Bukavu, The Democratic Republic of the Congo.
Diabetes Metab Syndr. 2013 Apr-Jun;7(2):112-5. doi: 10.1016/j.dsx.2013.02.017. Epub 2013 Mar 14.
The ferroportin Q248H mutation is relatively common in sub-Saharan Africa. No previous study examined its relationship with atypical diabetes mellitus (DM) in this area.
To determine the potential interactions between ferroportin Q248H mutation, hyperferritinemia and DM in South Kivu (RDC).
Presence of ferroportin Q248H mutation and iron status were investigated in diabetic patients (n=179, age (mean) 57.7 years, CRP (median) 0.16 mg/L) and non-diabetic subjects (n=86, age 44.5 years, CRP 0.07 mg/L) living in the city of Bukavu. Hyperferritinemia was considered for values greater than 200 and 300 μg/L in women and in men, respectively.
The prevalence of ferroportin Q248H mutation [12.1%] was non-significantly higher in diabetics than non-diabetics [14.0% vs. 8.1%, p=0.17]. Similarly, hyperferritinemia frequency was higher in diabetic patients with Q248H mutation [44.0% vs. 14.3%, p=0.16] and in mutation carriers [37.0% vs 16.5%, p=0.001] than in the control groups, respectively. The association between Q248H mutation and DM was nevertheless not significant [adjusted OR 1.70 (95% CI: 0.52-5.58), p=0.37], whereas hyperferritinemia [OR 2.72 (1.24-5.98), p=0.01] showed an independent effect after adjustment for age and metabolic syndrome.
The present work suggests a potential association between abnormal iron metabolism, ferroportin Q248H mutation and atypical DM in Africans, which may be modulated by environmental factors.
铁转运蛋白Q248H突变在撒哈拉以南非洲相对常见。此前尚无研究探讨该突变与该地区非典型糖尿病（DM）的关系。
确定刚果民主共和国南基伍地区铁转运蛋白Q248H突变、高铁蛋白血症与糖尿病之间的潜在相互作用。
对居住在布卡武市的糖尿病患者（n = 179，年龄（均值）57.7岁，CRP（中位数）0.16 mg/L）和非糖尿病受试者（n = 86，年龄44.5岁，CRP 0.07 mg/L）进行铁转运蛋白Q248H突变检测及铁状态评估。女性和男性铁蛋白水平分别超过200 μg/L和300 μg/L时被视为高铁蛋白血症。
糖尿病患者中铁转运蛋白Q248H突变的患病率[12.1%]略高于非糖尿病患者[14.0%对8.1%，p = 0.17]，但差异无统计学意义。同样，Q248H突变的糖尿病患者[44.0%对14.3%，p = 0.16]和突变携带者[37.0%对16.5%，p = 0.001]的高铁蛋白血症频率分别高于对照组。然而，Q248H突变与糖尿病之间的关联并不显著[校正OR 1.70（95%CI：0.52 - 5.58），p = 0.37]，而高铁蛋白血症[OR 2.72（1.24 - 5.98），p = 0.01]在调整年龄和代谢综合征后显示出独立影响。
本研究表明，非洲人群中铁代谢异常、铁转运蛋白Q248H突变与非典型糖尿病之间可能存在潜在关联，且这种关联可能受环境因素调节。
