Медицинская библиотека · Nature cardiovascular research · 2023

Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification.

de Vries Paul S, Conomos Matthew P, Singh Kuldeep, Nicholson Christopher J, Jain Deepti, Hasbani Natalie R, Jiang Wanlin, Lee Sujin, Lino Cardenas Christian L, Lutz Sharon M, Wong Doris, Guo Xiuqing, Yao Jie, Young Erica P, Tcheandjieu Catherine, Hilliard Austin T, Bis Joshua C, Bielak Lawrence F, Brown Michael R, Musharoff Shaila, Clarke Shoa L, Terry James G, Palmer Nicholette D, Yanek Lisa R, Xu Huichun, Heard-Costa Nancy, Wessel Jennifer, Selvaraj Margaret Sunitha, Li Rebecca H, Sun Xiao, Turner Adam W, Stilp Adrienne M, Khan Alyna, Newman Anne B, Rasheed Asif, Freedman Barry I, Kral Brian G, McHugh Caitlin P, Hodonsky Chani, Saleheen Danish, Herrington David M, Jacobs David R, Nickerson Deborah A, Boerwinkle Eric, Wang Fei Fei, Heiss Gerardo, Jun Goo, Kinney Greg L, Sigurslid Haakon H, Doddapaneni HarshaVardhan, Hall Ira M, Bensenor Isabela M, Broome Jai, Crapo James D, Wilson James G, Smith Jennifer A, Blangero John, Vargas Jose D, Mosquera Jose Verdezoto, Smith Joshua D, Viaud-Martinez Karine A, Ryan Kathleen A, Young Kendra A, Taylor Kent D, Lange Leslie A, Emery Leslie S, Bittencourt Marcio S, Budoff Matthew J, Montasser May E, Yu Miao, Mahaney Michael C, Mahamdeh Mohammed S, Fornage Myriam, Franceschini Nora, Lotufo Paulo A, Natarajan Pradeep, Wong Quenna, Mathias Rasika A, Gibbs Richard A, Do Ron, Mehran Roxana, Tracy Russell P, Kim Ryan W, Nelson Sarah C, Damrauer Scott M, Kardia Sharon L R, Rich Stephen S, Fuster Valentin, Napolioni Valerio, Zhao Wei, Tian Wenjie, Yin Xianyong, Min Yuan-I, Manning Alisa K, Peloso Gina, Kelly Tanika N, O'Donnell Christopher J, Morrison Alanna C, Curran Joanne E, Zapol Warren M, Bowden Donald W, Becker Lewis C, Correa Adolfo, Mitchell Braxton D, Psaty Bruce M, Carr John Jeffrey, Pereira Alexandre C, Assimes Themistocles L, Stitziel Nathan O, Hokanson John E, Laurie Cecelia A, Rotter Jerome I, Vasan Ramachandran S, Post Wendy S, Peyser Patricia A, Miller Clint L, Malhotra Rajeev

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Аннотация

Coronary artery calcification (CAC) is a measure of atherosclerosis and a well-established predictor of coronary artery disease (CAD) events. Here we describe a genome-wide association study (GWAS) of CAC in 22,400 participants from multiple ancestral groups. We confirmed associations with four known loci and identified two additional loci associated with CAC (ARSE and MMP16), with evidence of significant associations in replication analyses for both novel loci. Functional assays of ARSE and MMP16 in human vascular smooth muscle cells (VSMCs) demonstrate that ARSE is a promoter of VSMC calcification and VSMC phenotype switching from a contractile to a calcifying or osteogenic phenotype. Furthermore, we show that the association of variants near ARSE with reduced CAC is likely explained by reduced ARSE expression with the G allele of enhancer variant rs5982944. Our study highlights ARSE as an important contributor to atherosclerotic vascular calcification, and a potential drug target for vascular calcific disease.

Для цитирования: de Vries Paul S, Conomos Matthew P, Singh Kuldeep, Nicholson Christopher J, Jain Deepti, Hasbani Natalie R, Jiang Wanlin, Lee Sujin, Lino Cardenas Christian L, Lutz Sharon M, Wong Doris, Guo Xiuqing, Yao Jie, Young Erica P, Tcheandjieu Catherine, Hilliard Austin T, Bis Joshua C, Bielak Lawrence F, Brown Michael R, Musharoff Shaila, Clarke Shoa L, Terry James G, Palmer Nicholette D, Yanek Lisa R, Xu Huichun, Heard-Costa Nancy, Wessel Jennifer, Selvaraj Margaret Sunitha, Li Rebecca H, Sun Xiao, Turner Adam W, Stilp Adrienne M, Khan Alyna, Newman Anne B, Rasheed Asif, Freedman Barry I, Kral Brian G, McHugh Caitlin P, Hodonsky Chani, Saleheen Danish, Herrington David M, Jacobs David R, Nickerson Deborah A, Boerwinkle Eric, Wang Fei Fei, Heiss Gerardo, Jun Goo, Kinney Greg L, Sigurslid Haakon H, Doddapaneni HarshaVardhan, Hall Ira M, Bensenor Isabela M, Broome Jai, Crapo James D, Wilson James G, Smith Jennifer A, Blangero John, Vargas Jose D, Mosquera Jose Verdezoto, Smith Joshua D, Viaud-Martinez Karine A, Ryan Kathleen A, Young Kendra A, Taylor Kent D, Lange Leslie A, Emery Leslie S, Bittencourt Marcio S, Budoff Matthew J, Montasser May E, Yu Miao, Mahaney Michael C, Mahamdeh Mohammed S, Fornage Myriam, Franceschini Nora, Lotufo Paulo A, Natarajan Pradeep, Wong Quenna, Mathias Rasika A, Gibbs Richard A, Do Ron, Mehran Roxana, Tracy Russell P, Kim Ryan W, Nelson Sarah C, Damrauer Scott M, Kardia Sharon L R, Rich Stephen S, Fuster Valentin, Napolioni Valerio, Zhao Wei, Tian Wenjie, Yin Xianyong, Min Yuan-I, Manning Alisa K, Peloso Gina, Kelly Tanika N, O'Donnell Christopher J, Morrison Alanna C, Curran Joanne E, Zapol Warren M, Bowden Donald W, Becker Lewis C, Correa Adolfo, Mitchell Braxton D, Psaty Bruce M, Carr John Jeffrey, Pereira Alexandre C, Assimes Themistocles L, Stitziel Nathan O, Hokanson John E, Laurie Cecelia A, Rotter Jerome I, Vasan Ramachandran S, Post Wendy S, Peyser Patricia A, Miller Clint L, Malhotra Rajeev. Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification.. Nature cardiovascular research. 2023. DOI: 10.1038/s44161-023-00375-y.

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