TMPRSS6 rs855791 polymorphism and susceptibility to iron deficiency anaemia in non-dialysis chronic kidney disease patients in South Africa

南非非透析慢性肾病患者的 TMPRSS6 rs855791 多态性与缺铁性贫血易感性

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作者:Aishatu Muhammad Nalado, Caroline Dickens, Therese Dix-Peek, Johnny N Mahlangu, Gbenga Olorunfemi, Graham Paget, Raquel Duarte, Saraladevi Naicker

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.

Conclusions

Our study suggests that homozygosity for TMPRSS6 rs855791 C genotype does not influence IDA in non-dialysis CKD patients in our population.

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.

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