Association of Rare Loss-Of-Function Alleles in HAL, Serum HistidineCLINICAL PERSPECTIVE by Bing Yu, Alexander H. Li, Donna Muzny, Narayanan Veeraraghavan,

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Presentation transcript:

Association of Rare Loss-Of-Function Alleles in HAL, Serum HistidineCLINICAL PERSPECTIVE by Bing Yu, Alexander H. Li, Donna Muzny, Narayanan Veeraraghavan, Paul S. de Vries, Joshua C. Bis, Solomon K. Musani, Danny Alexander, Alanna C. Morrison, Oscar H. Franco, André Uitterlinden, Albert Hofman, Abbas Dehghan, James G. Wilson, Bruce M. Psaty, Richard Gibbs, Peng Wei, and Eric Boerwinkle Circ Genom Precis Med Volume 8(2):351-355 April 21, 2015 Copyright © American Heart Association, Inc. All rights reserved.

HAL loss-of-function (LoF) alleles and their association with histidine levels. HAL loss-of-function (LoF) alleles and their association with histidine levels. A, Three LoF variants in HAL among African Americans in ARIC; (B) flow chart of HAL gene function; (C) histidine levels in HAL LoF carriers and noncarriers, the error bars indicate standard deviations. Bing Yu et al. Circ Cardiovasc Genet. 2015;8:351-355 Copyright © American Heart Association, Inc. All rights reserved.

Pathways between HAL, histidine levels, and incident coronary heart disease. Pathways between HAL, histidine levels, and incident coronary heart disease. ARIC indicates Atherosclerosis Risk in Communities; CHD, coronary heart disease; FHS, Framingham Heart Study; LoF, loss-of-function; and MAF, minor allele frequency. Bing Yu et al. Circ Cardiovasc Genet. 2015;8:351-355 Copyright © American Heart Association, Inc. All rights reserved.

Forest plot of the association between loss-of-function variants in HAL and incident coronary heart disease. Forest plot of the association between loss-of-function variants in HAL and incident coronary heart disease. AAs indicates African Americans; ARIC, Atherosclerosis Risk in Communities; CI, confidence interval; CHS, Cardiovascular Health Study; cMAF, cumulative minor allele frequency; EAs, European Americans; HR, hazard ratio; JHS, Jackson Heart Study; and RS, Rotterdam Study. Bing Yu et al. Circ Cardiovasc Genet. 2015;8:351-355 Copyright © American Heart Association, Inc. All rights reserved.