Article
Single Nucleotide Polymorphism rs9277336 Controls the Nuclear Alpha Actinin 4-Human Leukocyte Antigen-DPA1 Axis and Pulmonary Endothelial Pathophenotypes in Pulmonary Arterial Hypertension.
Journal of the American Heart Association - 4 Apr 2023
Hafeez Neha, Kirillova Anna, Yue Yunshan, Rao Rashmi J, Kelly Neil J, El Khoury Wadih, Al Aaraj Yassmin, Tai Yi-Yin, Handen Adam, Tang Ying, Jiang Danli, Wu Ting, Zhang Yingze, McNamara Dennis, Kudryashova Tatiana V, Goncharova Elena A, Goncharov Dmitry, Bertero Thomas, Nouraie Mehdi, Li Gang, Sun Wei, Chan Stephen Y
Abstract excerpt
Background Pulmonary arterial hypertension (PAH) is a complex, fatal disease where disease severity has been associated with the single nucleotide polymorphism (SNP) rs2856830, located near the human leukocyte antigen DPA1 (HLA-DPA1) gene. We aimed to define the genetic architecture of functional variants associated with PAH disease severity by identifying allele-specific binding transcription factors and...
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