Details

Autor(en) / Beteiligte

• Tomppo, Liisa
• Rannikmae, Kristiina
• Stanne, Tara M.
• Putaala, Jukka
• Strbian, Daniel
• Jern, Christina
• de Leeuw, Frank Erik
• Cadenas, Israel Fernandez
• Slowik, Agnieszka M.
• Boncoraglio, Giorgio
• Lindgren, Arne
• Conde, Jordi J.
• Schmidt, Reinhold
• Sharma, Pankaj
• Lemmens, Robin
• Melander, Olle
• Rothwell, Peter
• Levi, Christopher
• Sudlow, Catherine
• Debette, Stephanie
• Metso, Tiina
• Pare, Guillaume
• Markus, Hugh
• Saleheen, Danish
• Danesh, John
• Zand, Ramin
• Worrall, Bradford B.
• Meschia, James F.
• Rundek, Tatjana
• Woo, Daniel
• Lee, Jin Moo
• Irvin, Marguerite R.
• Mcdonough, Caitrin W.
• Rexrode, Kathryn M.
• Wassertheil-Smoller, Sylvia W.
• Rosand, Jonathan
• Gieger, Christian
• Muller-Nurasyid, Martina
• Salomaa, Veikko V.
• Kamatani, Yoichiro
• Walters, Robin
• Chen, Zhengming
• Dichgans, Martin
• Malik, Rainer
• Gaynor, Brady
• Cole, John
• Xu, Huichun
• Mitchell, Braxton D.
• Kittner, Steven J.
• Early-Onset Stroke, Consortium

Titel

Sex-specific Genome Wide Association Study Of Early-onset Ischemic Stroke

Ist Teil von

• Stroke (1970), 2022-02, Vol.53 (Suppl_1)

Ort / Verlag

American Heart Association

Erscheinungsjahr

2022

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• Introduction: Genetic studies of early-onset disease have been an effective strategy to identify novel pathways and drug targets generalizable also to later-onset disease. Few studies have investigated the sex-specific genetic associations with early-onset ischemic stroke even though several features of ischemic stroke differ between males and females. We hypothesized that stratifying the GWAS by sex would reveal novel stroke loci. Methods: We performed a transethnic ischemic stroke GWAS of 3,056 female cases and 4,462 male cases < 60 years-old and 16,192 and 16,048 sex-matched controls, respectively, from the Early Onset Stroke Genetics Consortium. Results: We identified a significant association in women with a locus in close proximity to TMX1, a transmembrane platelet protein that inhibits platelet function. Additionally, we identified 2 other suggestive (P < 5 x 10-6) loci in females (see Table), i.e., at APOH, which encodes beta2-glycoprotein I, an established GWAS locus for lipoprotein(a), and LRFN2 which has been previously reported to associate with obesity-related measures and type II diabetes. We observed suggestive evidence for association in males with MMP3/MMP12, a known stroke susceptibility locus. Conclusions: Despite a very modest sample size, sex-specific analyses identified suggestive associations at biologically important novel loci in females and a known stroke locus in males. Further studies of sex-specific associations in both early- and later-onset ischemic stroke are needed.