P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure

Abstract

Our study suggests that p.R4810K of RNF213 is associated strongly with systolic BP.

Frequency of RNF213 p.R4810K, a susceptibility variant for moyamoya disease, and health characteristics of carriers in the Japanese population

“…This study showed that the genotypes and allele frequencies of RNF213 p.R4810K in the general Japanese population were 1.73 and 0.87 %, respectively, which are similar to frequencies previously reported [6][7][8][9][10][11]. Geographic distribution of RNF213 p.R4810K in East Asian populations is shown in Table 3.…”

“…In Japan, the values are between those in Korea and China, except for in the city of Noshiro (in which the values are extremely low). Furthermore, a previous study suggested that RNF213 p.R4810K is significantly associated with systolic blood pressure [10]. Although we observed no obvious differences between GG and GA groups, additional information, such as blood pressure, should be collected from each participant in future studies.…”

“…The p.R4810K polymorphism (c.14429G [ A: rs112735431) in RNF213 has a strong association with the disease in Japanese, Korean, and Chinese MMD patients [6,7], and the frequency of p.R4810K in the general Japanese population has been estimated at 1.4-2.7 % [6][7][8][9][10][11]. However, no studies have investigated symptoms and disease histories of RNF213 p.R4810K carriers in the general Japanese population, except for one report that tested the association of RNF213 p.R4810K with blood pressure [10]. In this study, our major objective was to investigate the frequency of RNF213 p.R4810K in 519 Japanese individuals from the city of Uji, Japan, and to determine the health characteristics of the carriers.…”

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population

“…A recent study even showed that RNF213 is associated with aneurysm formation after anastomotic surgery. 55 In addition to being associated with MMD, RNF213 has also been associated with other vascular disorders, 56 such as fibromuscular dysplasia (MIM: 135580), 57 high blood pressure, 58 intracranial major artery stenosis, 59,60 and heterogeneous intracerebral vasculopathy. 61 The p.Arg4810Lys variant in RNF213 is suggested to be a risk factor for MMD by causing stenosis; 60,62 other variants, however, might have different effects on the artery.…”

Genetic Variant RNF213 c.14576G>A in Various Phenotypes of Intracranial Major Artery Stenosis/Occlusion

“…In addition, the presence of RNF213 c.14576G>A may associate with high blood pressure. 15 Thus, there are strong indications that RNF213 c.14576G>A is a robust genetic risk indicator for ischemic stroke. Preventive treatment for stroke, such as blood pressure management, and image screening, such as MR angiography, for intracranial cerebral arterial lesion would be very important, especially for individuals with this specific allele, which is present in ≈2% of the Japanese population.…”