Nur Ain Azman, Zefarina Zulkafli, Nur Salwani Bakar, Mat Ghani Siti Nor Assyuhada, Siti Nur Nabeela A’ifah Mohammad
{"title":"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","authors":"Nur Ain Azman, Zefarina Zulkafli, Nur Salwani Bakar, Mat Ghani Siti Nor Assyuhada, Siti Nur Nabeela A’ifah Mohammad","doi":"10.1186/s43042-024-00511-8","DOIUrl":null,"url":null,"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.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Association of single nucleotide polymorphism at BMP2 gene with iron deficiency status among anaemic patients in Hospital Universiti Sains Malaysia\",\"authors\":\"Nur Ain Azman, Zefarina Zulkafli, Nur Salwani Bakar, Mat Ghani Siti Nor Assyuhada, Siti Nur Nabeela A’ifah Mohammad\",\"doi\":\"10.1186/s43042-024-00511-8\",\"DOIUrl\":null,\"url\":null,\"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.\",\"PeriodicalId\":39112,\"journal\":{\"name\":\"Egyptian Journal of Medical Human Genetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2024-04-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Egyptian Journal of Medical Human Genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1186/s43042-024-00511-8\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Egyptian Journal of Medical Human Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s43042-024-00511-8","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
摘要
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。
Association of single nucleotide polymorphism at BMP2 gene with iron deficiency status among anaemic patients in Hospital Universiti Sains Malaysia
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.