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HIF1A gene polymorphisms and human diseases: Graphical review of 97 association studies.


ABSTRACT: Hypoxia-inducible factors (HIFs) belong to a family of transcription factors (TF) responsive to a low O2 availability, which is often a characteristic feature of solid tumors. The alpha subunit of the HIF heterodimer is O2 -sensitive, and once stabilized in hypoxia, it functions as a master regulator of various genes involved in hypoxia pathway. Changes in the HIF1A (hypoxia inducible factor 1, alpha subunit) nucleotide sequence or expression has been shown to be associated with the development of several diseases. Because of increasing research interest in HIF1A gene a review of association studies was needed. We here reviewed published data on single nucleotide polymorphisms (SNPs) in HIF1A in various diseases; in total, 34 SNPs were tested for an association with 4

SUBMITTER: Gladek I 

PROVIDER: S-EPMC5395341 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature