The cysteine-altering p.R544C variant in the NOTCH3 gene is a probable candidate for blood pressure and relevant traits in the Taiwan Biobank

Lin, EugeneEugeneLinPO-HSIU KUOLiu, Yu-LiYu-LiLiuWang, Tso-JenTso-JenWangYang, Albert CAlbert CYangTsai, Shih-JenShih-JenTsai2024-02-262024-02-262023-1103405354https://scholars.lib.ntu.edu.tw/handle/123456789/639963The cysteine-altering variants in NOTCH3 have been suggested to be associated with stroke, dementia, and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), where aberrant blood pressure levels represent the characteristics of these diseases. We aimed to assess whether the cysteine-altering p.Arg544Cys (p.R544C; rs201118034) variant and common single nucleotide variants (SNVs) in NOTCH3 could contribute to systolic and diastolic blood pressure and related phenotypes in the Taiwan Biobank.enBiobank; Blood pressure; CADASIL; Dementia; NOTCH3; Neurology; Stroke[SDGs]SDG3The cysteine-altering p.R544C variant in the NOTCH3 gene is a probable candidate for blood pressure and relevant traits in the Taiwan Biobankjournal article10.1007/s00415-023-11909-6375266642-s2.0-85166345701https://api.elsevier.com/content/abstract/scopus_id/85166345701