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Showing 13 to 24 of 122 entries
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Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes.

American journal of human genetics

Hindy G, Dornbos P, Chaffin MD, Liu DJ, Wang M, Selvaraj MS, Zhang D, Park J, Aguilar-Salinas CA, Antonacci-Fulton L, Ardissino D, Arnett DK, Aslibekyan S, Atzmon G, Ballantyne CM, Barajas-Olmos F, Barzilai N, Becker LC, Bielak LF, Bis JC, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Bown MJ, Brody JA, Broome JG, Burtt NP, Cade BE, Centeno-Cruz F, Chan E, Chang YC, Chen YI, Cheng CY, Choi WJ, Chowdhury R, Contreras-Cubas C, Córdova EJ, Correa A, Cupples LA, Curran JE, Danesh J, de Vries PS, DeFronzo RA, Doddapaneni H, Duggirala R, Dutcher SK, Ellinor PT, Emery LS, Florez JC, Fornage M, Freedman BI, Fuster V, Garay-Sevilla ME, García-Ortiz H, Germer S, Gibbs RA, Gieger C, Glaser B, Gonzalez C, Gonzalez-Villalpando ME, Graff M, Graham SE, Grarup N, Groop LC, Guo X, Gupta N, Han S, Hanis CL, Hansen T, He J, Heard-Costa NL, Hung YJ, Hwang MY, Irvin MR, Islas-Andrade S, Jarvik GP, Kang HM, Kardia SLR, Kelly T, Kenny EE, Khan AT, Kim BJ, Kim RW, Kim YJ, Koistinen HA, Kooperberg C, Kuusisto J, Kwak SH, Laakso M, Lange LA, Lee J, Lee J, Lee S, Lehman DM, Lemaitre RN, Linneberg A, Liu J, Loos RJF, Lubitz SA, Lyssenko V, Ma RCW, Martin LW, Martínez-Hernández A, Mathias RA, McGarvey ST, McPherson R, Meigs JB, Meitinger T, Melander O, Mendoza-Caamal E, Metcalf GA, Mi X, Mohlke KL, Montasser ME, Moon JY, Moreno-Macías H, Morrison AC, Muzny DM, Nelson SC, Nilsson PM, O'Connell JR, Orho-Melander M, Orozco L, Palmer CNA, Palmer ND, Park CJ, Park KS, Pedersen O, Peralta JM, Peyser PA, Post WS, Preuss M, Psaty BM, Qi Q, Rao DC, Redline S, Reiner AP, Revilla-Monsalve C, Rich SS, Samani N, Schunkert H, Schurmann C, Seo D, Seo JS, Sim X, Sladek R, Small KS, So WY, Stilp AM, Tai ES, Tam CHT, Taylor KD, Teo YY, Thameem F, Tomlinson B, Tsai MY, Tuomi T, Tuomilehto J, Tusié-Luna T, Udler MS, van Dam RM, Vasan RS, Viaud Martinez KA, Wang FF, Wang X, Watkins H, Weeks DE, Wilson JG, Witte DR, Wong TY, Yanek LR, Kathiresan S, Rader DJ, Rotter JI, Boehnke M, McCarthy MI, Willer CJ, Natarajan P, Flannick JA, Khera AV, Peloso GM.
PMID: 34932938
Am J Hum Genet. 2022 Jan 06;109(1):81-96. doi: 10.1016/j.ajhg.2021.11.021. Epub 2021 Dec 20.

Large-scale gene sequencing studies for complex traits have the potential to identify causal genes with therapeutic implications. We performed gene-based association testing of blood lipid levels with rare (minor allele frequency < 1%) predicted damaging coding variation by using...

Association of Rare Genetic Variants and Early-Onset Atrial Fibrillation in Ethnic Minority Individuals.

JAMA cardiology

Chalazan B, Mol D, Darbar FA, Ornelas-Loredo A, Al-Azzam B, Chen Y, Tofovic D, Sridhar A, Alzahrani Z, Ellinor P, Darbar D.
PMID: 33950154
JAMA Cardiol. 2021 Jul 01;6(7):811-819. doi: 10.1001/jamacardio.2021.0994.

IMPORTANCE: Although rare variants in cardiac ion channels, transcription factors, and myocardial structural proteins are associated with early-onset atrial fibrillation (AF) in White individuals of European descent, it remains unclear whether genetic variation also contributes to the cause of...

Deep Learning of the Retina Enables Phenome- and Genome-wide Analyses of the Microvasculature.

Circulation

Zekavat SM, Raghu VK, Trinder M, Ye Y, Koyama S, Honigberg MC, Yu Z, Pampana A, Urbut S, Haidermota S, O'Regan DP, Zhao H, Ellinor PT, Segrè AV, Elze T, Wiggs JL, Martone J, Adelman RA, Zebardast N, Del Priore L, Wang JC, Natarajan P.
PMID: 34743558
Circulation. 2021 Nov 08; doi: 10.1161/CIRCULATIONAHA.121.057709. Epub 2021 Nov 08.

No abstract available.

Selection of 51 predictors from 13,782 candidate multimodal features using machine learning improves coronary artery disease prediction.

Patterns (New York, N.Y.)

Agrawal S, Klarqvist MDR, Emdin C, Patel AP, Paranjpe MD, Ellinor PT, Philippakis A, Ng K, Batra P, Khera AV.
PMID: 34950898
Patterns (N Y). 2021 Oct 04;2(12):100364. doi: 10.1016/j.patter.2021.100364. eCollection 2021 Dec 10.

Current cardiovascular risk assessment tools use a small number of predictors. Here, we study how machine learning might: (1) enable principled selection from a large multimodal set of candidate variables and (2) improve prediction of incident coronary artery disease...

A rapid and low-cost method for genomic DNA extraction from the cyanobacterium .

Biology methods & protocols

Harrison DJA, Thompson EP.
PMID: 32913895
Biol Methods Protoc. 2020 Jun 13;5(1):bpaa011. doi: 10.1093/biomethods/bpaa011. eCollection 2020.

A two-step method is reported for preparation of genomic DNA from the model cyanobacterium

Comparative Clinical Effectiveness of Population-Based Atrial Fibrillation Screening Using Contemporary Modalities: A Decision-Analytic Model.

Journal of the American Heart Association

Khurshid S, Chen W, Singer DE, Atlas SJ, Ashburner JM, Choi JG, Hur C, Ellinor PT, McManus DD, Chhatwal J, Lubitz SA.
PMID: 34476979
J Am Heart Assoc. 2021 Sep 21;10(18):e020330. doi: 10.1161/JAHA.120.020330. Epub 2021 Sep 03.

Background Atrial fibrillation (AF) screening is endorsed by certain guidelines for individuals aged ≥65 years. Yet many AF screening strategies exist, including the use of wrist-worn wearable devices, and their comparative effectiveness is not well-understood. Methods and Results We...

Clinical Characteristics in Older, Middle-Aged and Young Adults Who Present With Suicide Attempts at Psychiatric Emergency Departments: A Multisite Study.

The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry

Wiktorsson S, Strömsten L, Renberg ES, Runeson B, Waern M.
PMID: 34470715
Am J Geriatr Psychiatry. 2021 Aug 09; doi: 10.1016/j.jagp.2021.08.001. Epub 2021 Aug 09.

OBJECTIVES: To study age group differences in clinical characteristics in older, middle-aged and younger adults with actual suicide attempts (SA).DESIGN: Cross-sectional cohort study.SETTING: 3 Swedish university hospitals.PARTICIPANTS: 821 persons who presented with self-harm at psychiatric emergency departments participated. Those...

Association of Rare Genetic Variants and Early-Onset Atrial Fibrillation in Ethnic Minority Individuals.

JAMA cardiology

Chalazan B, Mol D, Darbar FA, Ornelas-Loredo A, Al-Azzam B, Chen Y, Tofovic D, Sridhar A, Alzahrani Z, Ellinor P, Darbar D.
PMID: 33950154
JAMA Cardiol. 2021 Jul 01;6(7):811-819. doi: 10.1001/jamacardio.2021.0994.

IMPORTANCE: Although rare variants in cardiac ion channels, transcription factors, and myocardial structural proteins are associated with early-onset atrial fibrillation (AF) in White individuals of European descent, it remains unclear whether genetic variation also contributes to the cause of...

Myocyte Specific Upregulation of ACE2 in Cardiovascular Disease: Implications for SARS-CoV-2 mediated myocarditis.

medRxiv : the preprint server for health sciences

Tucker NR, Chaffin M, Bedi KC, Papangeli I, Akkad AD, Arduini A, Hayat S, Eraslan G, Muus C, Bhattacharyya R, Stegmann CM, Margulies KB, Ellinor PT.
PMID: 32511660
medRxiv. 2020 Apr 14; doi: 10.1101/2020.04.09.20059204.

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...

Deep Learning of the Retina Enables Phenome- and Genome-Wide Analyses of the Microvasculature.

Circulation

Zekavat SM, Raghu VK, Trinder M, Ye Y, Koyama S, Honigberg MC, Yu Z, Pampana A, Urbut S, Haidermota S, O'Regan DP, Zhao H, Ellinor PT, Segrè AV, Elze T, Wiggs JL, Martone J, Adelman RA, Zebardast N, Del Priore L, Wang JC, Natarajan P.
PMID: 34743558
Circulation. 2022 Jan 11;145(2):134-150. doi: 10.1161/CIRCULATIONAHA.121.057709. Epub 2021 Nov 08.

BACKGROUND: The microvasculature, the smallest blood vessels in the body, has key roles in maintenance of organ health and tumorigenesis. The retinal fundus is a window for human in vivo noninvasive assessment of the microvasculature. Large-scale complementary machine learning-based...

Clinical Application of a Novel Genetic Risk Score for Ischemic Stroke in Patients With Cardiometabolic Disease.

Circulation

Marston NA, Patel PN, Kamanu FK, Nordio F, Melloni GM, Roselli C, Gurmu Y, Weng LC, Bonaca MP, Giugliano RP, Scirica BM, O'Donoghue ML, Cannon CP, Anderson CD, Bhatt DL, Gabriel Steg P, Cohen M, Storey RF, Sever P, Keech AC, Raz I, Mosenzon O, Antman EM, Braunwald E, Ellinor PT, Lubitz SA, Sabatine MS, Ruff CT.
PMID: 33185476
Circulation. 2021 Feb 02;143(5):470-478. doi: 10.1161/CIRCULATIONAHA.120.051927. Epub 2020 Nov 13.

BACKGROUND: Genome-wide association studies have identified single-nucleotide polymorphisms that are associated with an increased risk of stroke. We sought to determine whether a genetic risk score (GRS) could identify subjects at higher risk for ischemic stroke after accounting for...

Epigenetic Age and the Risk of Incident Atrial Fibrillation.

Circulation

Roberts JD, Vittinghoff E, Lu AT, Alonso A, Wang B, Sitlani CM, Mohammadi-Shemirani P, Fornage M, Kornej J, Brody JA, Arking DE, Lin H, Heckbert SR, Prokic I, Ghanbari M, Skanes AC, Bartz TM, Perez MV, Taylor KD, Lubitz SA, Ellinor PT, Lunetta KL, Pankow JS, Paré G, Sotoodehnia N, Benjamin EJ, Horvath S, Marcus GM.
PMID: 34587750
Circulation. 2021 Dec 14;144(24):1899-1911. doi: 10.1161/CIRCULATIONAHA.121.056456. Epub 2021 Sep 30.

BACKGROUND: The most prominent risk factor for atrial fibrillation (AF) is chronological age; however, underlying mechanisms are unexplained. Algorithms using epigenetic modifications to the human genome effectively predict chronological age. Chronological and epigenetic predicted ages may diverge in a...

Showing 13 to 24 of 122 entries