BACKGROUND: Moyamoya disease-an idiopathic vascular disorder of intracranial arteries-is often accompanied by hypertension. RNF213 has been identified as a susceptibility gene for moyamoya disease. In the present study, the association of p.R4810K (G>A) with blood pressure (BP) was investigated in a Japanese population. METHODOLOGY/PRINCIPAL FINDINGS: Three independent study populations, the Nyukawa (n = 984), Noshiro (n = 2,443) and Field (n = 881) studies, joined this study. BP, body weight and height were measured. Past and present symptoms and disease and medication histories were assessed by interview. Associations of p.R4810K (rs112735431, ss179362673) of RNF213 with BP were investigated. Two linkage disequilibrium blocks were constructed for moyamoya patients with p.R4810K (n = 140) and the general population (n = 384) using 39 single nucleotide polymorphisms (SNPs) spanning 390 kb around RNF213. A total of 60 carriers (3 for AA genotype and 57 for GA genotype) were found in these samples, and the minor allele frequencies were 1.4 % in the Nyukawa and Field studies and 0.2 % in the Noshiro study. Regression analyses adjusted for age, sex and body mass index based on an additive model demonstrated significant associations with systolic BP (mmHg/allele): β (standard error) was 8.2 (2.9) in the Nyukawa study (P = 4.7 × 10(-3)), 18.7 (5.4) in the Noshiro study (P = 4.6 × 10(-4)) and 8.9 (2.0) (P = 1.0 × 10(-5)) in the three populations. In contrast, diastolic BP showed significant associations only in the Noshiro study. Linkage disequilibrium blocks contained none of the BP-associated proxy SNPs reported by previous studies. CONCLUSIONS/SIGNIFICANCE: Our study suggests that p.R4810K of RNF213 is associated strongly with systolic BP.
BACKGROUND:Moyamoya disease-an idiopathic vascular disorder of intracranial arteries-is often accompanied by hypertension. RNF213 has been identified as a susceptibility gene for moyamoya disease. In the present study, the association of p.R4810K (G>A) with blood pressure (BP) was investigated in a Japanese population. METHODOLOGY/PRINCIPAL FINDINGS: Three independent study populations, the Nyukawa (n = 984), Noshiro (n = 2,443) and Field (n = 881) studies, joined this study. BP, body weight and height were measured. Past and present symptoms and disease and medication histories were assessed by interview. Associations of p.R4810K (rs112735431, ss179362673) of RNF213 with BP were investigated. Two linkage disequilibrium blocks were constructed for moyamoya patients with p.R4810K (n = 140) and the general population (n = 384) using 39 single nucleotide polymorphisms (SNPs) spanning 390 kb around RNF213. A total of 60 carriers (3 for AA genotype and 57 for GA genotype) were found in these samples, and the minor allele frequencies were 1.4 % in the Nyukawa and Field studies and 0.2 % in the Noshiro study. Regression analyses adjusted for age, sex and body mass index based on an additive model demonstrated significant associations with systolic BP (mmHg/allele): β (standard error) was 8.2 (2.9) in the Nyukawa study (P = 4.7 × 10(-3)), 18.7 (5.4) in the Noshiro study (P = 4.6 × 10(-4)) and 8.9 (2.0) (P = 1.0 × 10(-5)) in the three populations. In contrast, diastolic BP showed significant associations only in the Noshiro study. Linkage disequilibrium blocks contained none of the BP-associated proxy SNPs reported by previous studies. CONCLUSIONS/SIGNIFICANCE: Our study suggests that p.R4810K of RNF213 is associated strongly with systolic BP.
Authors: Y Mineharu; K Takenaka; H Yamakawa; K Inoue; H Ikeda; K-I Kikuta; Y Takagi; K Nozaki; N Hashimoto; A Koizumi Journal: J Neurol Neurosurg Psychiatry Date: 2006-06-20 Impact factor: 10.154
Authors: S Shimbo; Z W Zhang; C S Moon; T Watanabe; H Nakatsuka; N Matsuda-Inoguchi; K Higashikawa; M Ikeda Journal: Int Arch Occup Environ Health Date: 2000-04 Impact factor: 3.015
Authors: Y Mineharu; W Liu; K Inoue; N Matsuura; S Inoue; K Takenaka; H Ikeda; K Houkin; Y Takagi; K Kikuta; K Nozaki; N Hashimoto; A Koizumi Journal: Neurology Date: 2008-05-07 Impact factor: 9.910
Authors: Georg B Ehret; Patricia B Munroe; Kenneth M Rice; Murielle Bochud; Andrew D Johnson; Daniel I Chasman; Albert V Smith; Martin D Tobin; Germaine C Verwoert; Shih-Jen Hwang; Vasyl Pihur; Peter Vollenweider; Paul F O'Reilly; Najaf Amin; Jennifer L Bragg-Gresham; Alexander Teumer; Nicole L Glazer; Lenore Launer; Jing Hua Zhao; Yurii Aulchenko; Simon Heath; Siim Sõber; Afshin Parsa; Jian'an Luan; Pankaj Arora; Abbas Dehghan; Feng Zhang; Gavin Lucas; Andrew A Hicks; Anne U Jackson; John F Peden; Toshiko Tanaka; Sarah H Wild; Igor Rudan; Wilmar Igl; Yuri Milaneschi; Alex N Parker; Cristiano Fava; John C Chambers; Ervin R Fox; Meena Kumari; Min Jin Go; Pim van der Harst; Wen Hong Linda Kao; Marketa Sjögren; D G Vinay; Myriam Alexander; Yasuharu Tabara; Sue Shaw-Hawkins; Peter H Whincup; Yongmei Liu; Gang Shi; Johanna Kuusisto; Bamidele Tayo; Mark Seielstad; Xueling Sim; Khanh-Dung Hoang Nguyen; Terho Lehtimäki; Giuseppe Matullo; Ying Wu; Tom R Gaunt; N Charlotte Onland-Moret; Matthew N Cooper; Carl G P Platou; Elin Org; Rebecca Hardy; Santosh Dahgam; Jutta Palmen; Veronique Vitart; Peter S Braund; Tatiana Kuznetsova; Cuno S P M Uiterwaal; Adebowale Adeyemo; Walter Palmas; Harry Campbell; Barbara Ludwig; Maciej Tomaszewski; Ioanna Tzoulaki; Nicholette D Palmer; Thor Aspelund; Melissa Garcia; Yen-Pei C Chang; Jeffrey R O'Connell; Nanette I Steinle; Diederick E Grobbee; Dan E Arking; Sharon L Kardia; Alanna C Morrison; Dena Hernandez; Samer Najjar; Wendy L McArdle; David Hadley; Morris J Brown; John M Connell; Aroon D Hingorani; Ian N M Day; Debbie A Lawlor; John P Beilby; Robert W Lawrence; Robert Clarke; Jemma C Hopewell; Halit Ongen; Albert W Dreisbach; Yali Li; J Hunter Young; Joshua C Bis; Mika Kähönen; Jorma Viikari; Linda S Adair; Nanette R Lee; Ming-Huei Chen; Matthias Olden; Cristian Pattaro; Judith A Hoffman Bolton; Anna Köttgen; Sven Bergmann; Vincent Mooser; Nish Chaturvedi; Timothy M Frayling; Muhammad Islam; Tazeen H Jafar; Jeanette Erdmann; Smita R Kulkarni; Stefan R Bornstein; Jürgen Grässler; Leif Groop; Benjamin F Voight; Johannes Kettunen; Philip Howard; Andrew Taylor; Simonetta Guarrera; Fulvio Ricceri; Valur Emilsson; Andrew Plump; Inês Barroso; Kay-Tee Khaw; Alan B Weder; Steven C Hunt; Yan V Sun; Richard N Bergman; Francis S Collins; Lori L Bonnycastle; Laura J Scott; Heather M Stringham; Leena Peltonen; Markus Perola; Erkki Vartiainen; Stefan-Martin Brand; Jan A Staessen; Thomas J Wang; Paul R Burton; Maria Soler Artigas; Yanbin Dong; Harold Snieder; Xiaoling Wang; Haidong Zhu; Kurt K Lohman; Megan E Rudock; Susan R Heckbert; Nicholas L Smith; Kerri L Wiggins; Ayo Doumatey; Daniel Shriner; Gudrun Veldre; Margus Viigimaa; Sanjay Kinra; Dorairaj Prabhakaran; Vikal Tripathy; Carl D Langefeld; Annika Rosengren; Dag S Thelle; Anna Maria Corsi; Andrew Singleton; Terrence Forrester; Gina Hilton; Colin A McKenzie; Tunde Salako; Naoharu Iwai; Yoshikuni Kita; Toshio Ogihara; Takayoshi Ohkubo; Tomonori Okamura; Hirotsugu Ueshima; Satoshi Umemura; Susana Eyheramendy; Thomas Meitinger; H-Erich Wichmann; Yoon Shin Cho; Hyung-Lae Kim; Jong-Young Lee; James Scott; Joban S Sehmi; Weihua Zhang; Bo Hedblad; Peter Nilsson; George Davey Smith; Andrew Wong; Narisu Narisu; Alena Stančáková; Leslie J Raffel; Jie Yao; Sekar Kathiresan; Christopher J O'Donnell; Stephen M Schwartz; M Arfan Ikram; W T Longstreth; Thomas H Mosley; Sudha Seshadri; Nick R G Shrine; Louise V Wain; Mario A Morken; Amy J Swift; Jaana Laitinen; Inga Prokopenko; Paavo Zitting; Jackie A Cooper; Steve E Humphries; John Danesh; Asif Rasheed; Anuj Goel; Anders Hamsten; Hugh Watkins; Stephan J L Bakker; Wiek H van Gilst; Charles S Janipalli; K Radha Mani; Chittaranjan S Yajnik; Albert Hofman; Francesco U S Mattace-Raso; Ben A Oostra; Ayse Demirkan; Aaron Isaacs; Fernando Rivadeneira; Edward G Lakatta; Marco Orru; Angelo Scuteri; Mika Ala-Korpela; Antti J Kangas; Leo-Pekka Lyytikäinen; Pasi Soininen; Taru Tukiainen; Peter Würtz; Rick Twee-Hee Ong; Marcus Dörr; Heyo K Kroemer; Uwe Völker; Henry Völzke; Pilar Galan; Serge Hercberg; Mark Lathrop; Diana Zelenika; Panos Deloukas; Massimo Mangino; Tim D Spector; Guangju Zhai; James F Meschia; Michael A Nalls; Pankaj Sharma; Janos Terzic; M V Kranthi Kumar; Matthew Denniff; Ewa Zukowska-Szczechowska; Lynne E Wagenknecht; F Gerald R Fowkes; Fadi J Charchar; Peter E H Schwarz; Caroline Hayward; Xiuqing Guo; Charles Rotimi; Michiel L Bots; Eva Brand; Nilesh J Samani; Ozren Polasek; Philippa J Talmud; Fredrik Nyberg; Diana Kuh; Maris Laan; Kristian Hveem; Lyle J Palmer; Yvonne T van der Schouw; Juan P Casas; Karen L Mohlke; Paolo Vineis; Olli Raitakari; Santhi K Ganesh; Tien Y Wong; E Shyong Tai; Richard S Cooper; Markku Laakso; Dabeeru C Rao; Tamara B Harris; Richard W Morris; Anna F Dominiczak; Mika Kivimaki; Michael G Marmot; Tetsuro Miki; Danish Saleheen; Giriraj R Chandak; Josef Coresh; Gerjan Navis; Veikko Salomaa; Bok-Ghee Han; Xiaofeng Zhu; Jaspal S Kooner; Olle Melander; Paul M Ridker; Stefania Bandinelli; Ulf B Gyllensten; Alan F Wright; James F Wilson; Luigi Ferrucci; Martin Farrall; Jaakko Tuomilehto; Peter P Pramstaller; Roberto Elosua; Nicole Soranzo; Eric J G Sijbrands; David Altshuler; Ruth J F Loos; Alan R Shuldiner; Christian Gieger; Pierre Meneton; Andre G Uitterlinden; Nicholas J Wareham; Vilmundur Gudnason; Jerome I Rotter; Rainer Rettig; Manuela Uda; David P Strachan; Jacqueline C M Witteman; Anna-Liisa Hartikainen; Jacques S Beckmann; Eric Boerwinkle; Ramachandran S Vasan; Michael Boehnke; Martin G Larson; Marjo-Riitta Järvelin; Bruce M Psaty; Gonçalo R Abecasis; Aravinda Chakravarti; Paul Elliott; Cornelia M van Duijn; Christopher Newton-Cheh; Daniel Levy; Mark J Caulfield; Toby Johnson Journal: Nature Date: 2011-09-11 Impact factor: 49.962
Authors: Yang Cao; Hatasu Kobayashi; Takaaki Morimoto; Risako Kabata; Kouji H Harada; Akio Koizumi Journal: Environ Health Prev Med Date: 2016-06-30 Impact factor: 3.674
Authors: Oh Young Bang; Jong-Won Chung; Jihoon Cha; Mi Ji Lee; Je Young Yeon; Chang-Seok Ki; Pyoung Jeon; Jong-Soo Kim; Seung Chyul Hong Journal: PLoS One Date: 2016-06-02 Impact factor: 3.240