@article {850,
	title = {Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.},
	journal = {Nat Commun},
	volume = {11},
	year = {2020},
	month = {2020 05 07},
	pages = {2254},
	abstract = {<p>Dilated cardiomyopathy (DCM) is an important cause of heart failure and the leading indication for heart transplantation. Many rare genetic variants have been associated with DCM, but common variant studies of the disease have yielded few associated loci. As structural changes in the heart are a defining feature of DCM, we report a genome-wide association study of cardiac magnetic resonance imaging (MRI)-derived left ventricular measurements in 36,041 UK Biobank participants, with replication in 2184 participants from the Multi-Ethnic Study of Atherosclerosis. We identify 45 previously unreported loci associated with cardiac structure and function, many near well-established genes for Mendelian cardiomyopathies. A polygenic score of MRI-derived left ventricular end systolic volume strongly associates with incident DCM in the general population. Even among carriers of TTN truncating mutations, this polygenic score influences the size and function of the human heart. These results further implicate common genetic polymorphisms in the pathogenesis of DCM.</p>},
	keywords = {Cardiomyopathy, Dilated, Genome-Wide Association Study, Heart, Humans, Magnetic Resonance Imaging, Myocardium, Polymorphism, Single Nucleotide},
	issn = {2041-1723},
	doi = {10.1038/s41467-020-15823-7},
	author = {Pirruccello, James P and Bick, Alexander and Wang, Minxian and Chaffin, Mark and Friedman, Samuel and Yao, Jie and Guo, Xiuqing and Venkatesh, Bharath Ambale and Taylor, Kent D and Post, Wendy S and Rich, Stephen and Lima, Joao A C and Rotter, Jerome I and Philippakis, Anthony and Lubitz, Steven A and Ellinor, Patrick T and Khera, Amit V and Kathiresan, Sekar and Aragam, Krishna G}
}
@article {859,
	title = {A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.},
	journal = {PLoS Genet},
	volume = {16},
	year = {2020},
	month = {2020 04},
	pages = {e1008629},
	abstract = {<p>Analyzing 12,361 all-cause cirrhosis cases and 790,095 controls from eight cohorts, we identify a common missense variant in the Mitochondrial Amidoxime Reducing Component 1 gene (MARC1 p.A165T) that associates with protection from all-cause cirrhosis (OR 0.91, p = 2.3*10-11). This same variant also associates with lower levels of hepatic fat on computed tomographic imaging and lower odds of physician-diagnosed fatty liver as well as lower blood levels of alanine transaminase (-0.025 SD, 3.7*10-43), alkaline phosphatase (-0.025 SD, 1.2*10-37), total cholesterol (-0.030 SD, p = 1.9*10-36) and LDL cholesterol (-0.027 SD, p = 5.1*10-30) levels. We identified a series of additional MARC1 alleles (low-frequency missense p.M187K and rare protein-truncating p.R200Ter) that also associated with lower cholesterol levels, liver enzyme levels and reduced risk of cirrhosis (0 cirrhosis cases for 238 R200Ter carriers versus 17,046 cases of cirrhosis among 759,027 non-carriers, p = 0.04) suggesting that deficiency of the MARC1 enzyme may lower blood cholesterol levels and protect against cirrhosis.</p>},
	keywords = {Alleles, Cholesterol, LDL, Coronary Artery Disease, Datasets as Topic, Fatty Liver, Female, Genetic Predisposition to Disease, Homozygote, Humans, Liver, Liver Cirrhosis, Liver Cirrhosis, Alcoholic, Loss of Function Mutation, Male, Middle Aged, Mitochondrial Proteins, Mutation, Missense, Oxidoreductases},
	issn = {1553-7404},
	doi = {10.1371/journal.pgen.1008629},
	author = {Emdin, Connor A and Haas, Mary E and Khera, Amit V and Aragam, Krishna and Chaffin, Mark and Klarin, Derek and Hindy, George and Jiang, Lan and Wei, Wei-Qi and Feng, Qiping and Karjalainen, Juha and Havulinna, Aki and Kiiskinen, Tuomo and Bick, Alexander and Ardissino, Diego and Wilson, James G and Schunkert, Heribert and McPherson, Ruth and Watkins, Hugh and Elosua, Roberto and Bown, Matthew J and Samani, Nilesh J and Baber, Usman and Erdmann, Jeanette and Gupta, Namrata and Danesh, John and Saleheen, Danish and Chang, Kyong-Mi and Vujkovic, Marijana and Voight, Ben and Damrauer, Scott and Lynch, Julie and Kaplan, David and Serper, Marina and Tsao, Philip and Mercader, Josep and Hanis, Craig and Daly, Mark and Denny, Joshua and Gabriel, Stacey and Kathiresan, Sekar}
}
@article {868,
	title = {Titin Truncating Variants in Adults Without Known Congestive Heart~Failure.},
	journal = {J Am Coll Cardiol},
	volume = {75},
	year = {2020},
	month = {2020 03 17},
	pages = {1239-1241},
	keywords = {Adult, Aged, Asymptomatic Diseases, Connectin, Female, Genetic Variation, Heart Failure, Humans, Male, Middle Aged},
	issn = {1558-3597},
	doi = {10.1016/j.jacc.2020.01.013},
	author = {Pirruccello, James P and Bick, Alexander and Chaffin, Mark and Aragam, Krishna G and Choi, Seung Hoan and Lubitz, Steven A and Ho, Carolyn Y and Ng, Kenney and Philippakis, Anthony and Ellinor, Patrick T and Kathiresan, Sekar and Khera, Amit V}
}
