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DOI 10.1093/hmg/ddt116

Медицинская библиотека · Human molecular genetics · 2013

Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.

Stambolian Dwight, Wojciechowski Robert, Oexle Konrad, Pirastu Mario, Li Xiaohui, Raffel Leslie J, Cotch Mary Frances, Chew Emily Y, Klein Barbara, Klein Ronald, Wong Tien Y, Simpson Claire L, Klaver Caroline C W, van Duijn Cornelia M, Verhoeven Virginie J M, Baird Paul N, Vitart Veronique, Paterson Andrew D, Mitchell Paul, Saw Seang Mei, Fossarello Maurizio, Kazmierkiewicz Krista, Murgia Federico, Portas Laura, Schache Maria, Richardson Andrea, Xie Jing, Wang Jie Jin, Rochtchina Elena, DCCT/EDIC Research Group, Viswanathan Ananth C, Hayward Caroline, Wright Alan F, Polasek Ozren, Campbell Harry, Rudan Igor, Oostra Ben A, Uitterlinden André G, Hofman Albert, Rivadeneira Fernando, Amin Najaf, Karssen Lennart C, Vingerling Johannes R, Hosseini S M, Döring Angela, Bettecken Thomas, Vatavuk Zoran, Gieger Christian, Wichmann H-Erich, Wilson James F, Fleck Brian, Foster Paul J, Topouzis Fotis, McGuffin Peter, Sim Xueling, Inouye Michael, Holliday Elizabeth G, Attia John, Scott Rodney J, Rotter Jerome I, Meitinger Thomas, Bailey-Wilson Joan E

СтатьяМетаанализПоддержка NIH: внешняя программаResearch Support, N.I.H., IntramuralПоддержка исследования: вне правительства СШАПеревод пока не подготовлен

Аннотация

Visual refractive errors (REs) are complex genetic traits with a largely unknown etiology. To date, genome-wide association studies (GWASs) of moderate size have identified several novel risk markers for RE, measured here as mean spherical equivalent (MSE). We performed a GWAS using a total of 7280 samples from five cohorts: the Age-Related Eye Disease Study (AREDS); the KORA study ('Cooperative Health Research in the Region of Augsburg'); the Framingham Eye Study (FES); the Ogliastra Genetic Park-Talana (OGP-Talana) Study and the Multiethnic Study of Atherosclerosis (MESA). Genotyping was performed on Illumina and Affymetrix platforms with additional markers imputed to the HapMap II reference panel. We identified a new genome-wide significant locus on chromosome 16 (rs10500355, P = 3.9 × 10(-9)) in a combined discovery and replication set (26 953 samples). This single nucleotide polymorphism (SNP) is located within the RBFOX1 gene which is a neuron-specific splicing factor regulating a wide range of alternative splicing events implicated in neuronal development and maturation, including transcription factors, other splicing factors and synaptic proteins.

Для цитирования: Stambolian Dwight, Wojciechowski Robert, Oexle Konrad, Pirastu Mario, Li Xiaohui, Raffel Leslie J, Cotch Mary Frances, Chew Emily Y, Klein Barbara, Klein Ronald, Wong Tien Y, Simpson Claire L, Klaver Caroline C W, van Duijn Cornelia M, Verhoeven Virginie J M, Baird Paul N, Vitart Veronique, Paterson Andrew D, Mitchell Paul, Saw Seang Mei, Fossarello Maurizio, Kazmierkiewicz Krista, Murgia Federico, Portas Laura, Schache Maria, Richardson Andrea, Xie Jing, Wang Jie Jin, Rochtchina Elena, DCCT/EDIC Research Group, Viswanathan Ananth C, Hayward Caroline, Wright Alan F, Polasek Ozren, Campbell Harry, Rudan Igor, Oostra Ben A, Uitterlinden André G, Hofman Albert, Rivadeneira Fernando, Amin Najaf, Karssen Lennart C, Vingerling Johannes R, Hosseini S M, Döring Angela, Bettecken Thomas, Vatavuk Zoran, Gieger Christian, Wichmann H-Erich, Wilson James F, Fleck Brian, Foster Paul J, Topouzis Fotis, McGuffin Peter, Sim Xueling, Inouye Michael, Holliday Elizabeth G, Attia John, Scott Rodney J, Rotter Jerome I, Meitinger Thomas, Bailey-Wilson Joan E. Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.. Human molecular genetics. 2013. DOI: 10.1093/hmg/ddt116.

Предметные рубрики MeSH

AdolescentAdultAgedAged, 80 and overCohort StudiesFemaleGenome-Wide Association StudyHumansMaleMiddle AgedOrgan SpecificityPolymorphism, Single NucleotideRNA IsoformsRNA SplicingRNA Splicing FactorsRNA-Binding ProteinsRefractive ErrorsYoung Adult
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