Association of single nucleotide polymorphism at BMP2 gene with iron deficiency status among anaemic patients in Hospital Universiti Sains Malaysia

IF 1.2 Q4 GENETICS & HEREDITY Egyptian Journal of Medical Human Genetics Pub Date : 2024-04-03 DOI:10.1186/s43042-024-00511-8
Nur Ain Azman, Zefarina Zulkafli, Nur Salwani Bakar, Mat Ghani Siti Nor Assyuhada, Siti Nur Nabeela A’ifah Mohammad
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Abstract

Iron deficiency contributes for over half of all anaemia cases, especially among women and children. Iron deficiency anaemia remains a serious public health concern worldwide. The aim of this study is to determine the association between the single nucleotide polymorphism rs235756 in the bone morphogenetic protein 2 (BMP2) gene and iron deficiency status. 104 total anaemic samples were selected from Hospital Universiti Sains Malaysia. ARMS-PCR was performed to genotype the rs235756 SNP in the 104 samples. The genotype distribution of BMP2 rs235756 showed that AG genotypes had the highest frequency 51(86.4%) followed by GG 6(10.2%) and AA 2(3.4%) in IDA group, whereas AG 42(93.3%), AA 2(4.4%) and GG 1(2.2%) were found in the other anaemia group. The minor allele frequency in BMP 2 rs235756 from this study (0.514) was not similar to the East Asian (EAS) population (0.135); however, the allelic frequency showed significant association between these two. The mean of total iron binding capacity level differed significantly between homozygous-dominant AA and AG + GG genotypes (P < 0.05) but no significant difference for the mean of haematological parameter, ferritin and serum iron. In future clinical settings, this finding can potentially be as a guide in the early prediction for IDA patients through the genetic testing.
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马来西亚理科大学医院贫血患者 BMP2 基因单核苷酸多态性与缺铁状况的关系
在所有贫血症病例中,缺铁症占一半以上,尤其是在妇女和儿童中。缺铁性贫血仍是全球严重的公共卫生问题。本研究旨在确定骨形态发生蛋白 2(BMP2)基因中的单核苷酸多态性 rs235756 与缺铁状况之间的关联。研究人员从马来西亚理科大学医院选取了104个贫血样本。对 104 个样本中的 rs235756 SNP 进行了 ARMS-PCR 基因分型。BMP2 rs235756的基因型分布显示,在IDA组中,AG基因型的频率最高,为51(86.4%),其次是GG 6(10.2%)和AA 2(3.4%);而在其他贫血组中,AG 42(93.3%)、AA 2(4.4%)和GG 1(2.2%)。本研究中 BMP 2 rs235756 的小等位基因频率(0.514)与东亚(EAS)人群(0.135)并不相似,但二者的等位基因频率有显著关联。同卵显性 AA 基因型和 AG + GG 基因型的总铁结合能力平均值有显著差异(P < 0.05),但血液学参数、铁蛋白和血清铁的平均值无显著差异。在未来的临床环境中,这一发现有可能成为通过基因检测早期预测 IDA 患者的指南。
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来源期刊
Egyptian Journal of Medical Human Genetics
Egyptian Journal of Medical Human Genetics Medicine-Genetics (clinical)
CiteScore
2.20
自引率
7.70%
发文量
150
审稿时长
18 weeks
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