@article {9501,
	title = {Multi-ancestry genome-wide study identifies effector genes and druggable pathways for coronary artery calcification.},
	journal = {Nat Genet},
	volume = {55},
	year = {2023},
	month = {2023 Oct},
	pages = {1651-1664},
	abstract = {<p>Coronary artery calcification (CAC), a measure of subclinical atherosclerosis, predicts future symptomatic coronary artery disease (CAD). Identifying genetic risk factors for CAC may point to new therapeutic avenues for prevention. Currently, there are only four known risk loci for CAC identified from genome-wide association studies (GWAS) in the general population. Here we conducted the largest multi-ancestry GWAS meta-analysis of CAC to date, which comprised 26,909 individuals of European ancestry and 8,867 individuals of African ancestry. We identified 11 independent risk loci, of which eight were new for CAC and five had not been reported for CAD. These new CAC loci are related to bone mineralization, phosphate catabolism and hormone metabolic pathways. Several new loci harbor candidate causal genes supported by multiple lines of functional evidence and are regulators of smooth muscle cell-mediated calcification ex vivo and in vitro. Together, these findings help refine the genetic architecture of CAC and extend our understanding of the biological and potential druggable pathways underlying CAC.</p>},
	issn = {1546-1718},
	doi = {10.1038/s41588-023-01518-4},
	author = {Kavousi, Maryam and Bos, Maxime M and Barnes, Hanna J and Lino Cardenas, Christian L and Wong, Doris and Lu, Haojie and Hodonsky, Chani J and Landsmeer, Lennart P L and Turner, Adam W and Kho, Minjung and Hasbani, Natalie R and de Vries, Paul S and Bowden, Donald W and Chopade, Sandesh and Deelen, Joris and Benavente, Ernest Diez and Guo, Xiuqing and Hofer, Edith and Hwang, Shih-Jen and Lutz, Sharon M and Lyytik{\"a}inen, Leo-Pekka and Slenders, Lotte and Smith, Albert V and Stanislawski, Maggie A and van Setten, Jessica and Wong, Quenna and Yanek, Lisa R and Becker, Diane M and Beekman, Marian and Budoff, Matthew J and Feitosa, Mary F and Finan, Chris and Hilliard, Austin T and Kardia, Sharon L R and Kovacic, Jason C and Kral, Brian G and Langefeld, Carl D and Launer, Lenore J and Malik, Shaista and Hoesein, Firdaus A A Mohamed and Mokry, Michal and Schmidt, Reinhold and Smith, Jennifer A and Taylor, Kent D and Terry, James G and van der Grond, Jeroen and van Meurs, Joyce and Vliegenthart, Rozemarijn and Xu, Jianzhao and Young, Kendra A and Zilh{\~a}o, Nuno R and Zweiker, Robert and Assimes, Themistocles L and Becker, Lewis C and Bos, Daniel and Carr, J Jeffrey and Cupples, L Adrienne and de Kleijn, Dominique P V and de Winther, Menno and den Ruijter, Hester M and Fornage, Myriam and Freedman, Barry I and Gudnason, Vilmundur and Hingorani, Aroon D and Hokanson, John E and Ikram, M Arfan and I{\v s}gum, Ivana and Jacobs, David R and K{\"a}h{\"o}nen, Mika and Lange, Leslie A and Lehtim{\"a}ki, Terho and Pasterkamp, Gerard and Raitakari, Olli T and Schmidt, Helena and Slagboom, P Eline and Uitterlinden, Andr{\'e} G and Vernooij, Meike W and Bis, Joshua C and Franceschini, Nora and Psaty, Bruce M and Post, Wendy S and Rotter, Jerome I and Bj{\"o}rkegren, Johan L M and O{\textquoteright}Donnell, Christopher J and Bielak, Lawrence F and Peyser, Patricia A and Malhotra, Rajeev and van der Laan, Sander W and Miller, Clint L}
}
@article {9707,
	title = {Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification.},
	journal = {Nat Cardiovasc Res},
	volume = {2},
	year = {2023},
	month = {2023 Dec},
	pages = {1159-1172},
	abstract = {<p>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 ( and ), with evidence of significant associations in replication analyses for both novel loci. Functional assays of  and  in human vascular smooth muscle cells (VSMCs) demonstrate that  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  with reduced CAC is likely explained by reduced  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.</p>},
	issn = {2731-0590},
	doi = {10.1038/s44161-023-00375-y},
	author = {de Vries, Paul S and Conomos, Matthew P and Singh, Kuldeep and Nicholson, Christopher J and Jain, Deepti and Hasbani, Natalie R and Jiang, Wanlin and Lee, Sujin and Lino Cardenas, Christian L and Lutz, Sharon M and Wong, Doris and Guo, Xiuqing and Yao, Jie and Young, Erica P and Tcheandjieu, Catherine and Hilliard, Austin T and Bis, Joshua C and Bielak, Lawrence F and Brown, Michael R and Musharoff, Shaila and Clarke, Shoa L and Terry, James G and Palmer, Nicholette D and Yanek, Lisa R and Xu, Huichun and Heard-Costa, Nancy and Wessel, Jennifer and Selvaraj, Margaret Sunitha and Li, Rebecca H and Sun, Xiao and Turner, Adam W and Stilp, Adrienne M and Khan, Alyna and Newman, Anne B and Rasheed, Asif and Freedman, Barry I and Kral, Brian G and McHugh, Caitlin P and Hodonsky, Chani and Saleheen, Danish and Herrington, David M and Jacobs, David R and Nickerson, Deborah A and Boerwinkle, Eric and Wang, Fei Fei and Heiss, Gerardo and Jun, Goo and Kinney, Greg L and Sigurslid, Haakon H and Doddapaneni, Harshavardhan and Hall, Ira M and Bensenor, Isabela M and Broome, Jai and Crapo, James D and Wilson, James G and Smith, Jennifer A and Blangero, John and Vargas, Jose D and Mosquera, Jose Verdezoto and Smith, Joshua D and Viaud-Martinez, Karine A and Ryan, Kathleen A and Young, Kendra A and Taylor, Kent D and Lange, Leslie A and Emery, Leslie S and Bittencourt, Marcio S and Budoff, Matthew J and Montasser, May E and Yu, Miao and Mahaney, Michael C and Mahamdeh, Mohammed S and Fornage, Myriam and Franceschini, Nora and Lotufo, Paulo A and Natarajan, Pradeep and Wong, Quenna and Mathias, Rasika A and Gibbs, Richard A and Do, Ron and Mehran, Roxana and Tracy, Russell P and Kim, Ryan W and Nelson, Sarah C and Damrauer, Scott M and Kardia, Sharon L R and Rich, Stephen S and Fuster, Valentin and Napolioni, Valerio and Zhao, Wei and Tian, Wenjie and Yin, Xianyong and Min, Yuan-I and Manning, Alisa K and Peloso, Gina and Kelly, Tanika N and O{\textquoteright}Donnell, Christopher J and Morrison, Alanna C and Curran, Joanne E and Zapol, Warren M and Bowden, Donald W and Becker, Lewis C and Correa, Adolfo and Mitchell, Braxton D and Psaty, Bruce M and Carr, John Jeffrey and Pereira, Alexandre C and Assimes, Themistocles L and Stitziel, Nathan O and Hokanson, John E and Laurie, Cecelia A and Rotter, Jerome I and Vasan, Ramachandran S and Post, Wendy S and Peyser, Patricia A and Miller, Clint L and Malhotra, Rajeev}
}
