Mark Chaffin
Broad Institute
Genome-wide association studyGeneticsDiabetes mellitusMedicineBiology
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Publications 62
#1James P. Pirruccello (Harvard University)H-Index: 11
#2Mark Chaffin (Broad Institute)H-Index: 12
Last. Lu-Chen Weng (Broad Institute)H-Index: 17
view all 26 authors...
The aorta is the largest blood vessel in the body, and enlargement or aneurysm of the aorta can predispose to dissection, an important cause of sudden death. While rare syndromes have been identified that predispose to aortic aneurysm, the common genetic basis for the size of the aorta remains largely unknown. By leveraging a deep learning architecture that was originally developed to recognize natural images, we trained a model to evaluate the dimensions of the ascending and descending thoracic...
#1James P. Pirruccello (Broad Institute)H-Index: 11
#2Alexander G. Bick (Broad Institute)H-Index: 19
Last. Wendy S. Post (Johns Hopkins University)H-Index: 62
view all 19 authors...
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...
#1Christoph Muus (Broad Institute)H-Index: 2
#2Malte D LueckenH-Index: 1
Last. Christopher Smillie (Broad Institute)H-Index: 15
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The COVID-19 pandemic, caused by the novel coronavirus SARS-CoV-2, creates an urgent need for identifying molecular mechanisms that mediate viral entry, propagation, and tissue pathology. Cell membrane bound angiotensin-converting enzyme 2 (ACE2) and associated proteases, transmembrane protease serine 2 (TMPRSS2) and Cathepsin L (CTSL), were previously identified as mediators of SARS-CoV2 cellular entry. Here, we assess the cell type-specific RNA expression of ACE2, TMPRSS2, and CTSL through an ...
6 CitationsSource
#1Nathan R. TuckerH-Index: 14
#2Mark Chaffin (Broad Institute)H-Index: 12
Last. Roby P. Bhattacharyya (Harvard University)H-Index: 12
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Coronavirus disease 2019 (COVID-19) is a global pandemic caused by a novel severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). SARS-CoV-2 infection of host cells occurs predominantly via binding of the viral surface spike protein to the human angiotensin-converting enzyme 2 (ACE2) receptor. Hypertension and pre-existing cardiovascular disease are risk factors for morbidity from COVID-19, and it remains uncertain whether the use of angiotensin converting enzyme inhibitors (ACEi) or angi...
3 CitationsSource
#1Connor A. Emdin (Broad Institute)H-Index: 16
#2Mary E. Haas (Broad Institute)H-Index: 10
Last. QiPing Feng (Vandy: Vanderbilt University)H-Index: 9
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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−...
#1Connor A. EmdinH-Index: 2
#2Mary E. HaasH-Index: 10
Last. QiPing FengH-Index: 9
view all 41 authors...
#1Connor A. EmdinH-Index: 2
#2Mary E. HaasH-Index: 10
Last. QiPing FengH-Index: 9
view all 41 authors...
#1Antoinette Felicia van Ouwerkerk (UvA: University of Amsterdam)H-Index: 1
#2Fernanda M. Bosada (UvA: University of Amsterdam)H-Index: 1
Last. Phil Barnett (UvA: University of Amsterdam)H-Index: 24
view all 12 authors...
Rationale: Genome-wide association studies (GWAS) have identified a large number of common variants (single nucleotide polymorphisms) associated with atrial fibrillation (AF). These variants are located mainly in non-coding regions of the genome and likely include variants that modulate the function of transcriptional regulatory elements (REs) such as enhancers. However, the actual REs modulated by variants as well as the target genes of such REs remain to be identified. Thus, the biological mec...
Truncating variants in the gene encoding titin (TTNtv) are the most commonly identified pathogenic variants in cross-sectional studies of patients with dilated cardiomyopathy or atrial fibrillation ([1][1],[2][2]). In principle, gene sequencing to identify individuals who harbor a TTNtv prior to
#1Sonia ShahH-Index: 36
#2Albert HenryH-Index: 1
Last. Mark ChaffinH-Index: 12
view all 202 authors...