{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T01:20:46Z","timestamp":1790299246503,"version":"4.1.0"},"reference-count":37,"publisher":"Portland Press Ltd.","issue":"1","license":[{"start":{"date-parts":[[2020,12,24]],"date-time":"2020-12-24T00:00:00Z","timestamp":1608768000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,1,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Genetic variants associated with iron homeostasis have been identified, but their association with iron-related indices and variables among different ethnic populations remains controversial. We aimed to explore the genotype frequency and allelic distribution of three iron-metabolism related variants in homeostatic iron regulator gene (HFE; rs1800562 G\/A), transmembrane protease, Serine-6 gene (TMPRSS6; rs855791 A\/G), and BTB domain-containing protein-9 gene (BTBD9; rs9357271 C\/T) among a sample of the Middle Eastern blood donors and to detect the association of these variants on blood indices, and serum hepcidin\/ferritin levels. Real-Time TaqMan genotyping assay for the specified variants was applied for 197 unrelated blood donors. Complete blood picture and serum hepcidin\/ferritin levels were assessed. All participants were carriers of rs1800562*G\/G genotype for HFE. The frequency of A\/A and A\/G genotypes of TMPRSS6 rs855791 variant was 55% and 45%, and for C\/C, C\/T, and T\/T of BTBD9 rs9357271, were 15%, 43%, and 42%, respectively. Minor allele frequencies of rs855791*G and rs9357271*C were 0.23 and 0.37. The GGC genotype combination (for HFE\/TMPRSS6\/BTBD9, respectively) was more frequent in male participants. Higher serum hepcidin and hepcidin\/ferritin ratio were observed in TMPRSS6 (A\/G) carriers. While subjects with BTBD9 C\/T and TT genotypes had lower serum ferritin values and higher levels of hepcidin and hepcidin\/ferritin ratio compared with C\/C genotype. No significant associations were found with any other blood parameters.<\/jats:p>\n               <jats:p>In conclusion, TMPRSS6 rs855791 (A\/G) and BTBD9 rs9357271 (C\/T) variants were prevalent in the present blood donor population and may influence the serum hepcidin and\/or ferritin levels.<\/jats:p>","DOI":"10.1042\/bsr20202584","type":"journal-article","created":{"date-parts":[[2020,12,24]],"date-time":"2020-12-24T14:54:55Z","timestamp":1608821695000},"update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Molecular analysis of homeostatic iron regulator, transmembrane protease serine-6, and BTB domain-containing protein-9 variants and iron parameters in blood donors"],"prefix":"10.1042","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1252-8403","authenticated-orcid":false,"given":"Manal\u00a0S.","family":"Fawzy","sequence":"first","affiliation":[{"name":"Department of Biochemistry, Faculty of Medicine, Northern Border University, Arar, Saudi Arabia"},{"name":"Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Suez Canal University, Ismailia, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abeer","family":"Fakhr-Eldeen","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine, Northern Border University, Arar, Saudi Arabia"},{"name":"Department of Clinical Pathology, Faculty of Medicine, Sohag University, Sohag, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baraah\u00a0T.","family":"Abu AlSel","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine, Northern Border University, Arar, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eman\u00a0A.","family":"Toraih","sequence":"additional","affiliation":[{"name":"Department of Surgery, Tulane University, School of Medicine, New Orleans, Louisiana, U.S.A."},{"name":"Genetics Unit, Department of Histology and Cell Biology, Faculty of Medicine, Suez Canal University, Ismailia, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"288","published-online":{"date-parts":[[2021,1,14]]},"reference":[{"key":"2021111620370210200_B1","first-page":"164","article-title":"Review on iron and its importance for human health","volume":"19","author":"Abbaspour","year":"2014","journal-title":"J. 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