The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study)
Abstract Several studies have shown association of single nucleotide polymorphisms (SNPs) of hepcidin regulatory pathways genes with impaired iron status. The most common is in the TMPRSS6 gene. In Africa, very few studies have been reported. We aimed to investigate the correlation between the commo...
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| Format: | Article |
| Language: | English |
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BMC
2024-02-01
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| Series: | BMC Pediatrics |
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| Online Access: | https://doi.org/10.1186/s12887-024-04573-w |
| _version_ | 1827326162717638656 |
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| author | Hanan M. Hamed Eman El Bostany Ayat A. Motawie Amany M. Abd Al-Aziz Abbass A. Mourad Hassan M. Salama Solaf Kamel Eman M. Hassan Neveen A. Helmy Gamila S. El-saeed Eman A. Elghoroury |
| author_facet | Hanan M. Hamed Eman El Bostany Ayat A. Motawie Amany M. Abd Al-Aziz Abbass A. Mourad Hassan M. Salama Solaf Kamel Eman M. Hassan Neveen A. Helmy Gamila S. El-saeed Eman A. Elghoroury |
| author_sort | Hanan M. Hamed |
| collection | DOAJ |
| description | Abstract Several studies have shown association of single nucleotide polymorphisms (SNPs) of hepcidin regulatory pathways genes with impaired iron status. The most common is in the TMPRSS6 gene. In Africa, very few studies have been reported. We aimed to investigate the correlation between the common SNPs in the transmembrane protease, serine 6 (TMPRSS6) gene and iron indicators in a sample of Egyptian children for identifying the suitable candidate for iron supplementation. Patients and methods One hundred and sixty children aged 5–13 years were included & classified into iron deficient, iron deficient anemia and normal healthy controls. All were subjected to assessment of serum iron, serum ferritin, total iron binding capacity, complete blood count, reticulocyte count, serum soluble transferrin receptor and serum hepcidin. Molecular study of TMPRSS6 genotyping polymorphisms (rs4820268, rs855791 and rs11704654) were also evaluated. Results There was an association of iron deficiency with AG of rs855791 SNP, (P = 0.01). The minor allele frequency for included children were 0.43, 0.45 & 0.17 for rs4820268, rs855791 & rs11704654 respectively. Genotype GG of rs4820268 expressed the highest hepcidin gene expression fold, the lowest serum ferroportin & iron store compared to AA and AG genotypes (p = 0.05, p = 0.05, p = 0.03 respectively). GG of rs855791 had lower serum ferritin than AA (p = 0.04), lowest iron store & highest serum hepcidin compared to AA and AG genotypes (p = 0.04, p = 0.01 respectively). Children having CC of rs11704654 had lower level of hemoglobin, serum ferritin and serum hepcidin compared with CT genotype (p = 0.01, p = 0.01, p = 0.02) respectively. Conclusion Possible contribution of SNPs (rs855791, rs4820268 and rs11704654) to low iron status. |
| first_indexed | 2024-03-07T14:40:34Z |
| format | Article |
| id | doaj.art-32382b21974a4f72a24b0e46215a1332 |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-03-07T14:40:34Z |
| publishDate | 2024-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-32382b21974a4f72a24b0e46215a13322024-03-05T20:22:37ZengBMCBMC Pediatrics1471-24312024-02-0124111010.1186/s12887-024-04573-wThe association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study)Hanan M. Hamed0Eman El Bostany1Ayat A. Motawie2Amany M. Abd Al-Aziz3Abbass A. Mourad4Hassan M. Salama5Solaf Kamel6Eman M. Hassan7Neveen A. Helmy8Gamila S. El-saeed9Eman A. Elghoroury10Pediatrics Department, National Research CentrePediatrics Department, National Research CentrePediatrics Department, National Research CentrePediatrics Department, National Research CentrePediatrics Department, National Research CentrePediatrics Department, National Research CentreClinical and Chemical Pathology Department, National Research CentreClinical and Chemical Pathology Department, National Research CentreClinical and Chemical Pathology Department, National Research CentreMedical Biochemistry Department, National Research CentreClinical and Chemical Pathology Department, National Research CentreAbstract Several studies have shown association of single nucleotide polymorphisms (SNPs) of hepcidin regulatory pathways genes with impaired iron status. The most common is in the TMPRSS6 gene. In Africa, very few studies have been reported. We aimed to investigate the correlation between the common SNPs in the transmembrane protease, serine 6 (TMPRSS6) gene and iron indicators in a sample of Egyptian children for identifying the suitable candidate for iron supplementation. Patients and methods One hundred and sixty children aged 5–13 years were included & classified into iron deficient, iron deficient anemia and normal healthy controls. All were subjected to assessment of serum iron, serum ferritin, total iron binding capacity, complete blood count, reticulocyte count, serum soluble transferrin receptor and serum hepcidin. Molecular study of TMPRSS6 genotyping polymorphisms (rs4820268, rs855791 and rs11704654) were also evaluated. Results There was an association of iron deficiency with AG of rs855791 SNP, (P = 0.01). The minor allele frequency for included children were 0.43, 0.45 & 0.17 for rs4820268, rs855791 & rs11704654 respectively. Genotype GG of rs4820268 expressed the highest hepcidin gene expression fold, the lowest serum ferroportin & iron store compared to AA and AG genotypes (p = 0.05, p = 0.05, p = 0.03 respectively). GG of rs855791 had lower serum ferritin than AA (p = 0.04), lowest iron store & highest serum hepcidin compared to AA and AG genotypes (p = 0.04, p = 0.01 respectively). Children having CC of rs11704654 had lower level of hemoglobin, serum ferritin and serum hepcidin compared with CT genotype (p = 0.01, p = 0.01, p = 0.02) respectively. Conclusion Possible contribution of SNPs (rs855791, rs4820268 and rs11704654) to low iron status.https://doi.org/10.1186/s12887-024-04573-wIron deficiencyHepcidinTMPRSS6 gene SNPMinor allele frequency |
| spellingShingle | Hanan M. Hamed Eman El Bostany Ayat A. Motawie Amany M. Abd Al-Aziz Abbass A. Mourad Hassan M. Salama Solaf Kamel Eman M. Hassan Neveen A. Helmy Gamila S. El-saeed Eman A. Elghoroury The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study) BMC Pediatrics Iron deficiency Hepcidin TMPRSS6 gene SNP Minor allele frequency |
| title | The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study) |
| title_full | The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study) |
| title_fullStr | The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study) |
| title_full_unstemmed | The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study) |
| title_short | The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study) |
| title_sort | association of tmprss6 gene polymorphism with iron status in egyptian children a pilot study |
| topic | Iron deficiency Hepcidin TMPRSS6 gene SNP Minor allele frequency |
| url | https://doi.org/10.1186/s12887-024-04573-w |
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