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Molecular characterization of HAMP rs10421768 gene and phenotypic expression of hepcidin; a case-control study among sickle cell anaemia patients in Ghana.

التفاصيل البيبلوغرافية
العنوان: Molecular characterization of HAMP rs10421768 gene and phenotypic expression of hepcidin; a case-control study among sickle cell anaemia patients in Ghana.
المؤلفون: Appiah SK; Faculty of Health Science and Technology, Department of Medical Laboratory Science, Ebonyi State University, Abakaliki, Nigeria.; Department of Haematology, School of Allied Health Sciences, University for Development Studies, Tamale, Ghana., Nkansah C; Faculty of Health Science and Technology, Department of Medical Laboratory Science, Ebonyi State University, Abakaliki, Nigeria.; Department of Haematology, School of Allied Health Sciences, University for Development Studies, Tamale, Ghana., Abbam G; Department of Haematology, School of Allied Health Sciences, University for Development Studies, Tamale, Ghana., Osei-Boakye F; Faculty of Applied Science and Technology, Department of Medical Laboratory Technology, Sunyani Technical University, Sunyani, Ghana., Mensah K; Faculty of Health Science and Technology, Department of Medical Laboratory Science, Ebonyi State University, Abakaliki, Nigeria.; Department of Haematology, School of Allied Health Sciences, University for Development Studies, Tamale, Ghana., Bani SB; Department of Biomedical Laboratory Sciences, School of Allied Health Sciences, University for Development Studies, Tamale, Ghana., Chemogo S; Paediatric Unit, Methodist Hospital Wenchi, Wenchi, Bono Region, Ghana., Sarpong L; Department of Biomedical Laboratory Sciences, School of Allied Health Sciences, University for Development Studies, Tamale, Ghana., Addae TG; Department of Biomedical Laboratory Sciences, School of Allied Health Sciences, University for Development Studies, Tamale, Ghana., Sefa DB; Department of Biomedical Laboratory Sciences, School of Allied Health Sciences, University for Development Studies, Tamale, Ghana., Croffien RA; Department of Biomedical Laboratory Sciences, School of Allied Health Sciences, University for Development Studies, Tamale, Ghana., Adom L; Department of Biomedical Laboratory Sciences, School of Allied Health Sciences, University for Development Studies, Tamale, Ghana., Rauf ROA; Department of Biomedical Laboratory Sciences, School of Allied Health Sciences, University for Development Studies, Tamale, Ghana., Boadu F; Seth Owusu-Agyei Medical Laboratory, Microbiology/Molecular Biology, Kintampo Health Reasearch Centre, Kintampo, Ghana., Amoah GA; Department of Biomedical Laboratory Sciences, School of Allied Health Sciences, University for Development Studies, Tamale, Ghana., Chukwurah EF; Faculty of Health Science and Technology, Department of Medical Laboratory Science, Ebonyi State University, Abakaliki, Nigeria.
المصدر: PloS one [PLoS One] 2024 Jun 27; Vol. 19 (6), pp. e0306194. Date of Electronic Publication: 2024 Jun 27 (Print Publication: 2024).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
أسماء مطبوعة: Original Publication: San Francisco, CA : Public Library of Science
مواضيع طبية MeSH: Hepcidins*/genetics , Hepcidins*/blood , Anemia, Sickle Cell*/genetics , Anemia, Sickle Cell*/blood , Promoter Regions, Genetic* , Polymorphism, Single Nucleotide*, Humans ; Male ; Ghana ; Female ; Case-Control Studies ; Adult ; Adolescent ; Child ; Young Adult ; Genotype ; Phenotype
مستخلص: Background: The sporadic nature of blood transfusion therapy coupled with the alteration of HAMP genes may exacerbate the risk of iron burden in sickle cell anaemia (SCA) patients. The study determined the polymorphic distribution of the HAMP promoter gene rs10421768 and hepcidin levels in SCA patients.
Method: Sixty participants aged ≥12years [45 SCA patients and 15 controls (HbA)] were recruited from 15th March, 2023 to 20th July, 2023 for a case-control study at Methodist Hospital Wenchi, Ghana. Complete blood count and hepcidin levels assessment were done using haematology analyzer and ELISA, respectively. Genomic DNA was extracted using the Qiagen Kit, and HAMP gene rs10421768 (c.-582 A>G) was sequenced using the MassARRAY method. Data were analysed using SPSS version 26.0.
Results: The frequencies of the HAMP promoter rs10421768 genotypes AA, AG, and GG were 64.4%, 33.3%, and 2.2% in SCA patients, and 86.7%, 13.3%, and 0% in the controls, respectively. Serum hepcidin levels were significantly higher among controls than cases [204.0 (154.1-219.3) vs 150.2 (108.1-195.6)μg/L, p<0.010]. Participants with HAMP rs10421768 homozygous A genotype had higher serum levels of hepcidin compared with those in the wild genotypes (AG/GG) group [(188.7 (130.9-226.9) vs 136.8 (109.7-157.8)μg/L, p<0.016]. Disease severity and blood cell parameters were not associated with the HAMP variants (p>0.05).
Conclusion: The HAMP promoter rs10421768 AA genotype has the highest frequency of distribution and the GG genotype with the least distribution. Participants with HAMP rs10421768 G allele (c.-582A>G) had reduced levels of hepcidin. HAMP rs10421768 genotypes had no association with blood cell parameters and disease severity. The HAMP rs10421768 genotypes may influence serum levels of hepcidin. Further study is required to elucidate the potential effect of the G allele on hepcidin transcription.
Competing Interests: The authors have declared that no competing interests exist.
(Copyright: © 2024 Appiah et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)
References: Metabolites. 2022 Feb 02;12(2):. (PMID: 35208213)
Genet Test Mol Biomarkers. 2017 Jun;21(6):351-356. (PMID: 28530443)
Lancet. 2017 Jul 15;390(10091):311-323. (PMID: 28159390)
J Intern Med. 1993 Jun;233(6):467-70. (PMID: 7684769)
Haematologica. 2020 Jan 31;105(2):260-272. (PMID: 31949017)
Transl Gastroenterol Hepatol. 2020 Apr 05;5:25. (PMID: 32258529)
Front Med (Lausanne). 2021 Oct 25;8:731102. (PMID: 34760898)
Intern Emerg Med. 2019 Oct;14(7):1051-1064. (PMID: 31385153)
BMC Med Genet. 2020 Apr 8;21(1):75. (PMID: 32268883)
Acta Biomed. 2022 Aug 31;93(4):e2022291. (PMID: 36043959)
Pak J Biol Sci. 2021 Jan;24(1):146-150. (PMID: 33683041)
Health Sci Rep. 2022 Nov 24;5(6):e934. (PMID: 36439047)
Haematologica. 2009 Sep;94(9):1293-6. (PMID: 19734422)
EBioMedicine. 2018 Aug;34:158-164. (PMID: 30056060)
Int J Environ Res Public Health. 2022 Jun 04;19(11):. (PMID: 35682458)
Ann Clin Lab Sci. 2014 Summer;44(3):304-9. (PMID: 25117103)
Am J Manag Care. 2019 Nov;25(18 Suppl):S335-S343. (PMID: 31809007)
Blood Rev. 2019 Sep;37:100580. (PMID: 31128863)
Malar J. 2020 Nov 23;19(1):426. (PMID: 33228681)
BMC Genet. 2010 Dec 10;11:110. (PMID: 21143959)
Haematologica. 2009 May;94(5):720-4. (PMID: 19286879)
Cleve Clin J Med. 2020 Jan;87(1):19-27. (PMID: 31990651)
Open Access Maced J Med Sci. 2019 Aug 14;7(15):2434-2439. (PMID: 31666842)
Adv Hematol. 2018 Dec 2;2018:6161270. (PMID: 30631363)
المشرفين على المادة: 0 (Hepcidins)
0 (HAMP protein, human)
تواريخ الأحداث: Date Created: 20240627 Date Completed: 20240627 Latest Revision: 20240719
رمز التحديث: 20240719
مُعرف محوري في PubMed: PMC11210777
DOI: 10.1371/journal.pone.0306194
PMID: 38935685
قاعدة البيانات: MEDLINE
الوصف
تدمد:1932-6203
DOI:10.1371/journal.pone.0306194