Aishatu Muhammad Nalado, Caroline Dickens, Therese Dix-Peek, Johnny N Mahlangu, Gbenga Olorunfemi, Graham Paget, Raquel Duarte, Saraladevi Naicker
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引用次数: 0
摘要
背景:在全基因组研究中,TMPRSS6等位基因A736V (rs855791)与血清铁、转铁蛋白饱和度、血红蛋白和平均红细胞体积水平显著降低有很强的相关性。这种基因变异对慢性肾脏疾病(CKD)患者缺铁性贫血(IDA)易感性的影响尚不清楚。方法:在这项横断面研究中,我们测量了南非Charlotte Maxeke约翰内斯堡学术医院CKD黑人成年参与者(n=260)和健康对照组(n=146)的全血细胞计数和TMPRSS6 T>C多态性。结果:慢性肾病患者和对照组的总体贫血患病率分别为46.9%和19.6%。26%的慢性肾病患者缺铁。缺铁和非缺铁贫血组rs855791 C纯合率相似(86.1% vs 84.2%, P=0.723)。当分析局限于有或没有功能性缺铁性贫血的受试者时,两组的C纯合子(88.3% vs 84.4%, P=0.425)相似。结论:我们的研究表明,TMPRSS6 rs855791 C基因型的纯合性不影响我们人群中非透析CKD患者的IDA。
TMPRSS6 rs855791 polymorphism and susceptibility to iron deficiency anaemia in non-dialysis chronic kidney disease patients in South Africa.
Background: In genome-wide studies, there is a strong association between the TMPRSS6 allele A736V (rs855791) and significantly lower levels of serum iron, transferrin saturation, haemoglobin, and mean corpuscular volumes. The influence of this genetic variant on susceptibility to iron deficiency anaemia (IDA) in chronic kidney disease (CKD) patients is unknown.
Methods: In this cross-sectional study, we measured the full blood count and TMPRSS6 T>C polymorphism in black adult participants (n=260) with CKD and healthy controls (n=146) at the Charlotte Maxeke Johannesburg Academic Hospital, South Africa.
Results: The overall prevalence of anaemia in the CKD and control population was 46.9% and 19.6% respectively. Twenty-six per cent of CKD participants were iron deficient. The prevalence of rs855791 C homozygosity was similar among iron deficient and non-iron deficient anaemia groups (86.1% vs 84.2%, P=0.723). When the analysis was confined to subjects with or without functional iron deficiency anaemia, C homozygote (88.3% vs 84.4%, P=0.425) was similar for both groups.
Conclusions: Our study suggests that homozygosity for TMPRSS6 rs855791 C genotype does not influence IDA in non-dialysis CKD patients in our population.