Differences in the frequency of genetic variants associated with iron imbalance among global populations
Differences in the frequency of genetic variants associated with iron imbalance among global populations
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DOI：
10.1371/journal.pone.0235141
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发表时间：
2020-07-01
期刊：
影响因子：
3.7
通讯作者：
Campino, Susana
中科院分区：
文献类型：
--
作者：
Jallow, Momodou W.;Cerami, Carla;Campino, Susana
缺铁性贫血是影响全球约 12 亿人的主要健康问题。生活在撒哈拉以南非洲地区的幼儿、育龄妇女和孕妇是最脆弱的群体。据估计，一半的贫血病例是由缺铁引起的。除了营养缺乏之外，感染、炎症和遗传因素也是贫血的主要原因。然而，遗传风险因素的作用尚未得到彻底研究。这对于非洲人群尤其重要，因为他们具有高度的遗传多样性并且贫血患病率很高。铁调节基因的多种遗传变异与铁状态受损有关。在这里，我们进行了文献综述，以确定与全球人群铁失衡相关的遗传变异。我们比较了他们的等位基因频率和风险评分，并使用代表冈比亚农村地区个体的 Keneba Biobank 和千人基因组计划的数据调查了不同地理起源人群中的人群特异性选择。我们发现撒哈拉以南非洲地区严重缺乏铁状况遗传决定因素的数据。大多数关于铁状态的遗传决定因素的研究都是在欧洲人中进行的。此外，我们还确定了候选假定遗传风险因素中等位基因频率的群体差异。鉴于非洲人口遗传多样性极高，加上缺铁率很高，有必要研究撒哈拉以南非洲地区低铁状况的遗传影响。由此产生的见解可能会为铁干预策略的未来实施提供信息。
Iron deficiency anaemia is a major health problem affecting approximately 1.2 billion people worldwide. Young children, women of reproductive age and pregnant women living in sub-Saharan Africa are the most vulnerable. It is estimated that iron deficiency accounts for half of anaemia cases. Apart from nutritional deficiency, infection, inflammation and genetic factors are the major drivers of anaemia. However, the role of genetic risk factors has not been thoroughly investigated. This is particularly relevant in African populations, as they carry high genetic diversity and have a high prevalence of anaemia. Multiple genetic variations in iron regulatory genes have been linked to impaired iron status. Here we conducted a literature review to identify genetic variants associated with iron imbalance among global populations. We compare their allele frequencies and risk scores and we investigated population-specific selection among populations of varying geographic origin using data from the Keneba Biobank representing individuals in rural Gambia and the 1000 Genomes Project. We identified a significant lack of data on the genetic determinants of iron status in sub-Saharan Africa. Most of the studies on genetic determinants of iron status have been conducted in Europeans. Also, we identified population differences in allele frequencies in candidate putative genetic risk factors. Given the disproportionately high genetic diversity in African populations coupled with their high prevalence of iron deficiency, there is need to investigate the genetic influences of low iron status in Sub-Saharan Africa. The resulting insights may inform the future implementation of iron intervention strategies.