biostudies-literatureK ADBT/Wellcome Trust India AllianceWellcome Truste0243925https://www.ebi.ac.uk/biostudies/studies/S-EPMC7769475biostudies-literatureUnknown15(12)<h4>Background and purpose</h4>Polymorphisms in Ring Finger Protein 213 (RNF 213) gene have been detected to confer genetic susceptibility to Moya moya disease (MMD) in the East Asian population. We investigated the frequency of RNF 213 gene polymorphism and its association with MMD phenotypes in the Indian population.<h4>Materials and methods</h4>A case-control study for RNF 213 polymorphism involving 65 MMD patients, 75 parents, and 120 controls were performed. A total of 21 SNPs were screened, of which 17 SNPs were monomorphic. Allelic and genotypic frequency of all polymorphic SNPs were assessed and its association with MMD phenotypes was evaluated.<h4>Results</h4>The median age of symptom onset was 9 (range 2-17) and 37 years (range 20-58) in paediatric and adult patients respectivelyPloS oneEthnic variation and the relevance of homozygous RNF 213 p.R4810.K variant in the phenotype of Indian Moya moya disease.PMC7769475IA/R/16/2/502992Sudhir JBP N SBanerjee MShafeeque CMK AfalseEthnic variation and the relevance of homozygous RNF 213 p.R4810.K variant in the phenotype of Indian Moya moya disease.<h4>Background and purpose</h4>Polymorphisms in Ring Finger Protein 213 (RNF 213) gene have been detected to confer genetic susceptibility to Moya moya disease (MMD) in the East Asian population. We investigated the frequency of RNF 213 gene polymorphism and its association with MMD phenotypes in the Indian population.<h4>Materials and methods</h4>A case-control study for RNF 213 polymorphism involving 65 MMD patients, 75 parents, and 120 controls were performed. A total of 21 SNPs were screened, of which 17 SNPs were monomorphic. Allelic and genotypic frequency of all polymorphic SNPs were assessed and its association with MMD phenotypes was evaluated.<h4>Results</h4>The median age of symptom onset was 9 (range 2-17) and 37 years (range 20-58) in paediatric and adult patients respectively2020-01-01T00:00:00Z20202026-04-30T04:22:31.091Z2021-02-20T21:01:22ZS-EPMC77694753337035710.1371/journal.pone.0243925