TMPRSS6 rs855791 polymorphism is associated with iron deficiency in a cohort of Sri Lankan pregnant women

TMPRSS6 rs855791 polymorphism is associated with iron deficiency in a cohort of Sri Lankan pregnant women

Abstract Background Hepcidin is the key regulator of systemic iron homeostasis and is downregulated by matriptase 2 (MT2), a protease encoded by TMPRSS6 gene. In the presence of low iron levels, MT2 cleaves membrane-bound hemojuvelin (HJV), causing a negative regulation of hepcidin at the gene level...

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Main Authors: Halinne Lokuge Thilakshi Chamanika Abeywickrama, Miruna Sudharshani Kalaimani Rabindrakumar, Lakindu Samaranayake Pathira Kankanamge, Tharanga Thoradeniya, Gayani Harendra Galhena
Format: Article
Language:English
Published: SpringerOpen 2022-12-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Genetic association studies
Hepcidin
Homology models
Iron deficiency anemia
Iron homeostasis
Membrane bound hemojuvelin
Online Access:https://doi.org/10.1186/s43042-022-00377-8

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