Focused panel sequencing points to genetic predisposition in non-cirrhotic intrahepatic portal hypertension patients in India.

Rekha AaronKalpana PremkumarAaron ChaplaB VijayalekshmiUday ZachariahElwyn EliasThomas Alex KodiatteDolly DanielJohn JudeK A BalasubramanianSukesh C NairNihal ThomasBanumathi RamakrishnaC E EapenAshish Goel

Published in: Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology (2023)

In this first of a kind comprehensive gene panel study, multiple variants of significance have been noted, especially in ADAMTS13-VWF and complement pathways in NCIPH patients in India. Functional significance of these variants needs to be further studied.

Keyphrases

end stage renal disease
copy number
chronic kidney disease
ejection fraction
newly diagnosed
prognostic factors
blood pressure
gene expression
patient reported