NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke.

Humans Receptor, Notch3 / genetics Asian People / genetics Male Stroke / genetics Female Genetic Predisposition to Disease Pakistan United Kingdom / epidemiology Middle Aged Gene Frequency Exome Sequencing Aged Magnetic Resonance Imaging Polymorphism, Single Nucleotide Mutation, Missense South Asian People

Journal

Nature communications

ISSN: 2041-1723

Titre abrégé: Nat Commun

Pays: England

ID NLM: 101528555

Informations de publication

Date de publication:
13 Sep 2024

Historique:

received: 09 11 2023

accepted: 19 08 2024

medline: 14 9 2024

pubmed: 14 9 2024

entrez: 13 9 2024

Statut: epublish

Résumé

The genetic factors of stroke in South Asians are largely unexplored. Exome-wide sequencing and association analysis (ExWAS) in 75 K Pakistanis identified NM_000435.3(NOTCH3):c.3691 C > T, encoding the missense amino acid substitution p.Arg1231Cys, enriched in South Asians (alternate allele frequency = 0.58% compared to 0.019% in Western Europeans), and associated with subcortical hemorrhagic stroke [odds ratio (OR) = 3.39, 95% confidence interval (CI) = [2.26, 5.10], p = 3.87 × 10

Identifiants

DOI: 10.1038/s41467-024-51819-3 PMID: 39271666

pubmed: 39271666

doi: 10.1038/s41467-024-51819-3

pii: 10.1038/s41467-024-51819-3

doi:

Substances chimiques

Receptor, Notch3 0

NOTCH3 protein, human 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

Pagination

8029

Investigateurs

Gonçalo Abecasis (G)

Adolfo Ferrando (A)

Michael Cantor (M)

Andrew Deubler (A)

John D Overton (JD)

Katherine Siminovitch (K)

Jason Portnoy (J)

Marcus B Jones (MB)

Lyndon Mitnaul (L)

Alison Fenney (A)

Manuel Allen Revez Ferreira (MAR)

Maya Ghoussaini (M)

Mona Nafde (M)

William Salerno (W)

Christina Beechert (C)

Erin D Brian (ED)

Laura M Cremona (LM)

Hang Du (H)

Caitlin Forsythe (C)

Zhenhua Gu (Z)

Kristy Guevara (K)

Michael Lattari (M)

Alexander Lopez (A)

Kia Manoochehri (K)

Prathyusha Challa (P)

Manasi Pradhan (M)

Raymond Reynoso (R)

Ricardo Schiavo (R)

Maria Sotiropoulos Padilla (MS)

Chenggu Wang (C)

Sarah E Wolf (SE)

Amelia Averitt (A)

Dadong Li (D)

Sameer Malhotra (S)

Justin Mower (J)

Mudasar Sarwar (M)

Sean Yu (S)

Xingmin Aaron Zhang (XA)

Muhammad Aqeel (M)

Manan Goyal (M)

George Mitra (G)

Sanjay Sreeram (S)

Rouel Lanche (R)

Vrushali Mahajan (V)

Sai Lakshmi Vasireddy (SL)

Gisu Eom (G)

Krishna Pawan Punuru (KP)

Sujit Gokhale (S)

Benjamin Sultan (B)

Pooja Mule (P)

Eliot Austin (E)

Xiaodong Bai (X)

Lance Zhang (L)

Sean O'Keeffe (S)

Razvan Panea (R)

Evan Edelstein (E)

Ayesha Rasool (A)

Evan K Maxwell (EK)

Boris Boutkov (B)

Alexander Gorovits (A)

Ju Guan (J)

Lukas Habegger (L)

Alicia Hawes (A)

Olga Krasheninina (O)

Samantha Zarate (S)

Adam J Mansfield (AJ)

Kathy Burch (K)

Adrian Campos (A)

Liron Ganel (L)

Sheila Gaynor (S)

Benjamin Geraghty (B)

Arkopravo Ghosh (A)

Salvador Romero Martinez (SR)

Christopher Gillies (C)

Lauren Gurski (L)

Joseph Herman (J)

Eric Jorgenson (E)

Tyler Joseph (T)

Michael Kessler (M)

Jack Kosmicki (J)

Adam Locke (A)

Priyanka Nakka (P)

Karl Landheer (K)

Olivier Delaneau (O)

Anthony Marcketta (A)

Joelle Mbatchou (J)

Arden Moscati (A)

Aditeya Pandey (A)

Anita Pandit (A)

Jonathan Ross (J)

Carlo Sidore (C)

Eli Stahl (E)

Timothy Thornton (T)

Peter VandeHaar (P)

Sailaja Vedantam (S)

Rujin Wang (R)

Kuan-Han Wu (KH)

None Bin Ye

Blair Zhang (B)

Andrey Ziyatdinov (A)

Yuxin Zou (Y)

Jingning Zhang (J)

Kyoko Watanabe (K)

Mira Tang (M)

Frank Wendt (F)

Suganthi Balasubramanian (S)

Suying Bao (S)

Kathie Sun (K)

Chuanyi Zhang (C)

Brian Hobbs (B)

Jon Silver (J)

William Palmer (W)

Rita Guerreiro (R)

Amit Joshi (A)

Antoine Baldassari (A)

Cristen Willer (C)

Sarah Graham (S)

Ernst Mayerhofer (E)

Mary Haas (M)

George Hindy (G)

Jonas Bovijn (J)

Parsa Akbari (P)

Luanluan Sun (L)

Olukayode Sosina (O)

Arthur Gilly (A)

Peter Dornbos (P)

Moeen Riaz (M)

Momodou W Jallow (MW)

Anna Alkelai (A)

Ariane Ayer (A)

Veera Rajagopal (V)

Vijay Kumar (V)

Jacqueline Otto (J)

Aysegul Guvenek (A)

Jose Bras (J)

Silvia Alvarez (S)

Jessie Brown (J)

Jing He (J)

Hossein Khiabanian (H)

Joana Revez (J)

Kimberly Skead (K)

Valentina Zavala (V)

Jae Soon Sul (JS)

Lei Chen (L)

Sam Choi (S)

Amy Damask (A)

Nan Lin (N)

Charles Paulding (C)

Esteban Chen (E)

Michelle G LeBlanc (MG)

Jason Mighty (J)

Jennifer Rico-Varela (J)

Nirupama Nishtala (N)

Nadia Rana (N)

Jaimee Hernandez (J)

Randi Schwartz (R)

Jody Hankins (J)

Anna Han (A)

Samuel Hart (S)

Ann Perez-Beals (A)

Gina Solari (G)

Johannie Rivera-Picart (J)

Michelle Pagan (M)

Sunilbe Siceron (S)

Informations de copyright

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