@article {8515,
	title = {{Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls},
	journal = {Nature},
	volume = {570},
	year = {2019},
	month = {06},
	pages = {71{\textendash}76},
	abstract = {Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals with type 2 diabetes (T2D) and 24,440 non-diabetic control participants from 5 ancestries. We identify gene-level associations of rare variants (with minor allele frequencies of less than 0.5\%) in 4 genes at exome-wide significance, including a series of more than 30 SLC30A8 alleles that conveys protection against T2D, and in 12 gene sets, including those corresponding to T2D drug targets (P = 6.1 {\~A}{\textemdash} 10-3) and candidate genes from knockout mice (P = 5.2 {\~A}{\textemdash} 10-3). Within our study, the strongest T2D gene-level signals for rare variants explain at most 25\% of the heritability of the strongest common single-variant signals, and the gene-level effect sizes of the rare variants that we observed in established T2D drug targets will require 75,000-185,000 sequenced cases to achieve exome-wide significance. We propose a method to interpret these modest rare-variant associations and to incorporate these associations into future target or gene prioritization efforts.},
	author = {Flannick, J. and Mercader, J. M. and Fuchsberger, C. and Udler, M. S. and Mahajan, A. and Wessel, J. and Teslovich, T. M. and Caulkins, L. and Koesterer, R. and Barajas-Olmos, F. and Blackwell, T. W. and Boerwinkle, E. and Brody, J. A. and Centeno-Cruz, F. and Chen, L. and Chen, S. and Contreras-Cubas, C. and C?rdova, E. and Correa, A. and Cortes, M. and DeFronzo, R. A. and Dolan, L. and Drews, K. L. and Elliott, A. and Floyd, J. S. and Gabriel, S. and Garay-Sevilla, M. E. and Garc?a-Ortiz, H. and Gross, M. and Han, S. and Heard-Costa, N. L. and Jackson, A. U. and J?rgensen, M. E. and Kang, H. M. and Kelsey, M. and Kim, B. J. and Koistinen, H. A. and Kuusisto, J. and Leader, J. B. and Linneberg, A. and Liu, C. T. and Liu, J. and Lyssenko, V. and Manning, A. K. and Marcketta, A. and Malacara-Hernandez, J. M. and Mart?nez-Hern?ndez, A. and Matsuo, K. and Mayer-Davis, E. and Mendoza-Caamal, E. and Mohlke, K. L. and Morrison, A. C. and Ndungu, A. and Ng, M. C. Y. and O{\textquoteright}Dushlaine, C. and Payne, A. J. and Pihoker, C. and Post, W. S. and Preuss, M. and Psaty, B. M. and Vasan, R. S. and Rayner, N. W. and Reiner, A. P. and Revilla-Monsalve, C. and Robertson, N. R. and Santoro, N. and Schurmann, C. and So, W. Y. and Sober?n, X. and Stringham, H. M. and Strom, T. M. and Tam, C. H. T. and Thameem, F. and Tomlinson, B. and Torres, J. M. and Tracy, R. P. and van Dam, R. M. and Vujkovic, M. and Wang, S. and Welch, R. P. and Witte, D. R. and Wong, T. Y. and Atzmon, G. and Barzilai, N. and Blangero, J. and Bonnycastle, L. L. and Bowden, D. W. and Chambers, J. C. and Chan, E. and Cheng, C. Y. and Cho, Y. S. and Collins, F. S. and de Vries, P. S. and Duggirala, R. and Glaser, B. and Gonzalez, C. and Gonzalez, M. E. and Groop, L. and Kooner, J. S. and Kwak, S. H. and Laakso, M. and Lehman, D. M. and Nilsson, P. and Spector, T. D. and Tai, E. S. and Tuomi, T. and Tuomilehto, J. and Wilson, J. G. and Aguilar-Salinas, C. A. and Bottinger, E. and Burke, B. and Carey, D. J. and Chan, J. C. N. and Dupuis, J. and Frossard, P. and Heckbert, S. R. and Hwang, M. Y. and Kim, Y. J. and Kirchner, H. L. and Lee, J. Y. and Lee, J. and Loos, R. J. F. and Ma, R. C. W. and Morris, A. D. and O{\textquoteright}Donnell, C. J. and Palmer, C. N. A. and Pankow, J. and Park, K. S. and Rasheed, A. and Saleheen, D. and Sim, X. and Small, K. S. and Teo, Y. Y. and Haiman, C. and Hanis, C. L. and Henderson, B. E. and Orozco, L. and Tusi?-Luna, T. and Dewey, F. E. and Baras, A. and Gieger, C. and Meitinger, T. and Strauch, K. and Lange, L. and Grarup, N. and Hansen, T. and Pedersen, O. and Zeitler, P. and Dabelea, D. and Abecasis, G. and Bell, G. I. and Cox, N. J. and Seielstad, M. and Sladek, R. and Meigs, J. B. and Rich, S. S. and Rotter, J. I. and Altshuler, D. and Burtt, N. P. and Scott, L. J. and Morris, A. P. and Florez, J. C. and McCarthy, M. I. and Boehnke, M.}
}
@article {8527,
	title = {{Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels},
	journal = {Circulation},
	volume = {139},
	year = {2019},
	month = {01},
	pages = {620{\textendash}635},
	abstract = {Factor VIII (FVIII) and its carrier protein von Willebrand factor (VWF) are associated with risk of arterial and venous thrombosis and with hemorrhagic disorders. We aimed to identify and functionally test novel genetic associations regulating plasma FVIII and VWF.\ We meta-analyzed genome-wide association results from 46 354 individuals of European, African, East Asian, and Hispanic ancestry. All studies performed linear regression analysis using an additive genetic model and associated {\^a}{\textperthousand}{\textasciicircum}35 million imputed variants with natural log-transformed phenotype levels. In vitro gene silencing in cultured endothelial cells was performed for candidate genes to provide additional evidence on association and function. Two-sample Mendelian randomization analyses were applied to test the causal role of FVIII and VWF plasma levels on the risk of arterial and venous thrombotic events.\ We identified 13 novel genome-wide significant ( P{\^a}{\textperthousand}¤2.5{\~A}{\textemdash}10-8) associations, 7 with FVIII levels ( FCHO2/TMEM171/TNPO1, HLA, SOX17/RP1, LINC00583/NFIB, RAB5C-KAT2A, RPL3/TAB1/SYNGR1, and ARSA) and 11 with VWF levels ( PDHB/PXK/KCTD6, SLC39A8, FCHO2/TMEM171/TNPO1, HLA, GIMAP7/GIMAP4, OR13C5/NIPSNAP, DAB2IP, C2CD4B, RAB5C-KAT2A, TAB1/SYNGR1, and ARSA), beyond 10 previously reported associations with these phenotypes. Functional validation provided further evidence of association for all loci on VWF except ARSA and DAB2IP. Mendelian randomization suggested causal effects of plasma FVIII activity levels on venous thrombosis and coronary artery disease risk and plasma VWF levels on ischemic stroke risk.\ The meta-analysis identified 13 novel genetic loci regulating FVIII and VWF plasma levels, 10 of which we validated functionally. We provide some evidence for a causal role of these proteins in thrombotic events.},
	author = {Sabater-Lleal, M. and Huffman, J. E. and de Vries, P. S. and Marten, J. and Mastrangelo, M. A. and Song, C. and Pankratz, N. and Ward-Caviness, C. K. and Yanek, L. R. and Trompet, S. and Delgado, G. E. and Guo, X. and Bartz, T. M. and Martinez-Perez, A. and Germain, M. and de Haan, H. G. and Ozel, A. B. and Polasek, O. and Smith, A. V. and Eicher, J. D. and Reiner, A. P. and Tang, W. and Davies, N. M. and Stott, D. J. and Rotter, J. I. and Tofler, G. H. and Boerwinkle, E. and de Maat, M. P. M. and Kleber, M. E. and Welsh, P. and Brody, J. A. and Chen, M. H. and Vaidya, D. and Soria, J. M. and Suchon, P. and van Hylckama Vlieg, A. and Desch, K. C. and Kolcic, I. and Joshi, P. K. and Launer, L. J. and Harris, T. B. and Campbell, H. and Rudan, I. and Becker, D. M. and Li, J. Z. and Rivadeneira, F. and Uitterlinden, A. G. and Hofman, A. and Franco, O. H. and Cushman, M. and Psaty, B. M. and Morange, P. E. and McKnight, B. and Chong, M. R. and Fernandez-Cadenas, I. and Rosand, J. and Lindgren, A. and Gudnason, V. and Wilson, J. F. and Hayward, C. and Ginsburg, D. and Fornage, M. and Rosendaal, F. R. and Souto, J. C. and Becker, L. C. and Jenny, N. S. and M?rz, W. and Jukema, J. W. and Dehghan, A. and Tr?gou?t, D. A. and Morrison, A. C. and Johnson, A. D. and O{\textquoteright}Donnell, C. J. and Strachan, D. P. and Lowenstein, C. J. and Smith, N. L.}
}
@article {8776,
	title = {{Association between ABO haplotypes and the risk of venous thrombosis: impact on disease risk estimation},
	journal = {Blood},
	volume = {137},
	year = {2021},
	month = {Apr},
	pages = {2394{\textendash}2402},
	abstract = {10.1182/blood.2020008997Genetic risk score (GRS) analysis is a popular approach to derive individual risk prediction models for complex diseases. In venous thrombosis (VT), such type of analysis shall integrate information at the ABO blood group locus, which is one of the major susceptibility loci. However, there is no consensus about which single nucleotide polymorphisms (SNPs) must be investigated when properly assessing association between ABO locus and VT risk. Using comprehensive haplotype analyses of ABO blood group tagging SNPs in 5425 cases and 8445 controls from 6 studies, we demonstrate that using only rs8176719 (tagging O1) to correctly assess the impact of ABO locus on VT risk is suboptimal, because 5\% of rs8176719-delG carriers do not have an increased risk of developing VT. Instead, we recommend the use of 4 SNPs, rs2519093 (tagging A1), rs1053878 (A2), rs8176743 (B), and rs41302905 (O2), when assessing the impact of ABO locus on VT risk to avoid any risk misestimation. Compared with the O1 haplotype, the A2 haplotype is associated with a modest increase in VT risk (odds ratio, \~{}1.2), the A1 and B haplotypes are associated with an \~{}1.8-fold increased risk, whereas the O2 haplotype tends to be slightly protective (odds ratio, \~{}0.80). In addition, although the A1 and B blood groups are associated with increased von Willebrand factor and factor VIII plasma levels, only the A1 blood group is associated with ICAM levels, but in an opposite direction, leaving additional avenues to be explored to fully understand the spectrum of biological effects mediated by ABO locus on cardiovascular traits.},
	author = {Goumidi, L. and Thibord, F. and Wiggins, K. L. and Li-Gao, R. and Brown, M. R. and van Hylckama Vlieg, A. and Souto, J. C. and Soria, J. M. and Ibrahim-Kosta, M. and Saut, N. and Daian, D. and Olaso, R. and Amouyel, P. and Debette, S. and Boland, A. and Bailly, P. and Morrison, A. C. and Mook-Kanamori, D. O. and Deleuze, J. F. and Johnson, A. and de Vries, P. S. and Sabater-Lleal, M. and Chiaroni, J. and Smith, N. L. and Rosendaal, F. R. and Chasman, D. I. and Tr{\'e}gou{\"e}t, D. A. and Morange, P. E.}
}
@article {8992,
	title = {{The power of genetic diversity in genome-wide association studies of lipids},
	journal = {Nature},
	volume = {600},
	year = {2021},
	month = {Dec},
	pages = {675{\textendash}679},
	abstract = {application of polygenic scores in clinical practice.},
	author = {Graham, S. E. and Clarke, S. L. and Wu, K. H. and Kanoni, S. and Zajac, G. J. M. and Ramdas, S. and Surakka, I. and Ntalla, I. and Vedantam, S. and Winkler, T. W. and Locke, A. E. and Marouli, E. and Hwang, M. Y. and Han, S. and Narita, A. and Choudhury, A. and Bentley, A. R. and Ekoru, K. and Verma, A. and Trivedi, B. and Martin, H. C. and Hunt, K. A. and Hui, Q. and Klarin, D. and Zhu, X. and Thorleifsson, G. and Helgadottir, A. and Gudbjartsson, D. F. and Holm, H. and Olafsson, I. and Akiyama, M. and Sakaue, S. and Terao, C. and Kanai, M. and Zhou, W. and Brumpton, B. M. and Rasheed, H. and Ruotsalainen, S. E. and Havulinna, A. S. and Veturi, Y. and Feng, Q. and Rosenthal, E. A. and Lingren, T. and Pacheco, J. A. and Pendergrass, S. A. and Haessler, J. and Giulianini, F. and Bradford, Y. and Miller, J. E. and Campbell, A. and Lin, K. and Millwood, I. Y. and Hindy, G. and Rasheed, A. and Faul, J. D. and Zhao, W. and Weir, D. R. and Turman, C. and Huang, H. and Graff, M. and Mahajan, A. and Brown, M. R. and Zhang, W. and Yu, K. and Schmidt, E. M. and Pandit, A. and Gustafsson, S. and Yin, X. and Luan, J. and Zhao, J. H. and Matsuda, F. and Jang, H. M. and Yoon, K. and Medina-Gomez, C. and Pitsillides, A. and Hottenga, J. J. and Willemsen, G. and Wood, A. R. and Ji, Y. and Gao, Z. and Haworth, S. and Mitchell, R. E. and Chai, J. F. and Aadahl, M. and Yao, J. and Manichaikul, A. and Warren, H. R. and Ramirez, J. and Bork-Jensen, J. and K{\r a}rhus, L. L. and Goel, A. and Sabater-Lleal, M. and Noordam, R. and Sidore, C. and Fiorillo, E. and McDaid, A. F. and Marques-Vidal, P. and Wielscher, M. and Trompet, S. and Sattar, N. and M{\o}llehave, L. T. and Thuesen, B. H. and Munz, M. and Zeng, L. and Huang, J. and Yang, B. and Poveda, A. and Kurbasic, A. and Lamina, C. and Forer, L. and Scholz, M. and Galesloot, T. E. and Bradfield, J. P. and Daw, E. W. and Zmuda, J. M. and Mitchell, J. S. and Fuchsberger, C. and Christensen, H. and Brody, J. A. and Feitosa, M. F. and Wojczynski, M. K. and Preuss, M. and Mangino, M. and Christofidou, P. and Verweij, N. and Benjamins, J. W. and Engmann, J. and Kember, R. L. and Slieker, R. C. and Lo, K. S. and Zilhao, N. R. and Le, P. and Kleber, M. E. and Delgado, G. E. and Huo, S. and Ikeda, D. D. and Iha, H. and Yang, J. and Liu, J. and Leonard, H. L. and Marten, J. and Schmidt, B. and Arendt, M. and Smyth, L. J. and Ca{\~n}adas-Garre, M. and Wang, C. and Nakatochi, M. and Wong, A. and Hutri-K{\"a}h{\"o}nen, N. and Sim, X. and Xia, R. and Huerta-Chagoya, A. and Fernandez-Lopez, J. C. and Lyssenko, V. and Ahmed, M. and Jackson, A. U. and Irvin, M. R. and Oldmeadow, C. and Kim, H. N. and Ryu, S. and Timmers, P. R. H. J. and Arbeeva, L. and Dorajoo, R. and Lange, L. A. and Chai, X. and Prasad, G. and Lor{\'e}s-Motta, L. and Pauper, M. and Long, J. and Li, X. and Theusch, E. and Takeuchi, F. and Spracklen, C. N. and Loukola, A. and Bollepalli, S. and Warner, S. C. and Wang, Y. X. and Wei, W. B. and Nutile, T. and Ruggiero, D. and Sung, Y. J. and Hung, Y. J. and Chen, S. and Liu, F. and Yang, J. and Kentistou, K. A. and Gorski, M. and Brumat, M. and Meidtner, K. and Bielak, L. F. and Smith, J. A. and Hebbar, P. and Farmaki, A. E. and Hofer, E. and Lin, M. and Xue, C. and Zhang, J. and Concas, M. P. and Vaccargiu, S. and van der Most, P. J. and Pitk{\"a}nen, N. and Cade, B. E. and Lee, J. and van der Laan, S. W. and Chitrala, K. N. and Weiss, S. and Zimmermann, M. E. and Lee, J. Y. and Choi, H. S. and Nethander, M. and Freitag-Wolf, S. and Southam, L. and Rayner, N. W. and Wang, C. A. and Lin, S. Y. and Wang, J. S. and Couture, C. and Lyytik{\"a}inen, L. P. and Nikus, K. and Cuellar-Partida, G. and Vestergaard, H. and Hildalgo, B. and Giannakopoulou, O. and Cai, Q. and Obura, M. O. and van Setten, J. and Li, X. and Schwander, K. and Terzikhan, N. and Shin, J. H. and Jackson, R. D. and Reiner, A. P. and Martin, L. W. and Chen, Z. and Li, L. and Highland, H. M. and Young, K. L. and Kawaguchi, T. and Thiery, J. and Bis, J. C. and Nadkarni, G. N. and Launer, L. J. and Li, H. and Nalls, M. A. and Raitakari, O. T. and Ichihara, S. and Wild, S. H. and Nelson, C. P. and Campbell, H. and J{\"a}ger, S. and Nabika, T. and Al-Mulla, F. and Niinikoski, H. and Braund, P. S. and Kolcic, I. and Kovacs, P. and Giardoglou, T. and Katsuya, T. and Bhatti, K. F. and de Kleijn, D. and de Borst, G. J. and Kim, E. K. and Adams, H. H. H. and Ikram, M. A. and Zhu, X. and Asselbergs, F. W. and Kraaijeveld, A. O. and Beulens, J. W. J. and Shu, X. O. and Rallidis, L. S. and Pedersen, O. and Hansen, T. and Mitchell, P. and Hewitt, A. W. and K{\"a}h{\"o}nen, M. and P{\'e}russe, L. and Bouchard, C. and Tonjes, A. and Chen, Y. I. and Pennell, C. E. and Mori, T. A. and Lieb, W. and Franke, A. and Ohlsson, C. and Mellstr{\"o}m, D. and Cho, Y. S. and Lee, H. and Yuan, J. M. and Koh, W. P. and Rhee, S. Y. and Woo, J. T. and Heid, I. M. and Stark, K. J. and V{\"o}lzke, H. and Homuth, G. and Evans, M. K. and Zonderman, A. B. and Polasek, O. and Pasterkamp, G. and Hoefer, I. E. and Redline, S. and Pahkala, K. and Oldehinkel, A. J. and Snieder, H. and Biino, G. and Schmidt, R. and Schmidt, H. and Chen, Y. E. and Bandinelli, S. and Dedoussis, G. and Thanaraj, T. A. and Kardia, S. L. R. and Kato, N. and Schulze, M. B. and Girotto, G. and Jung, B. and B{\"o}ger, C. A. and Joshi, P. K. and Bennett, D. A. and De Jager, P. L. and Lu, X. and Mamakou, V. and Brown, M. and Caulfield, M. J. and Munroe, P. B. and Guo, X. and Ciullo, M. and Jonas, J. B. and Samani, N. J. and Kaprio, J. and Pajukanta, P. and Adair, L. S. and Bechayda, S. A. and de Silva, H. J. and Wickremasinghe, A. R. and Krauss, R. M. and Wu, J. Y. and Zheng, W. and den Hollander, A. I. and Bharadwaj, D. and Correa, A. and Wilson, J. G. and Lind, L. and Heng, C. K. and Nelson, A. E. and Golightly, Y. M. and Wilson, J. F. and Penninx, B. and Kim, H. L. and Attia, J. and Scott, R. J. and Rao, D. C. and Arnett, D. K. and Walker, M. and Koistinen, H. A. and Chandak, G. R. and Yajnik, C. S. and Mercader, J. M. and Tusi{\'e}-Luna, T. and Aguilar-Salinas, C. A. and Villalpando, C. G. and Orozco, L. and Fornage, M. and Tai, E. S. and van Dam, R. M. and Lehtim{\"a}ki, T. and Chaturvedi, N. and Yokota, M. and Liu, J. and Reilly, D. F. and McKnight, A. J. and Kee, F. and J{\"o}ckel, K. H. and McCarthy, M. I. and Palmer, C. N. A. and Vitart, V. and Hayward, C. and Simonsick, E. and van Duijn, C. M. and Lu, F. and Qu, J. and Hishigaki, H. and Lin, X. and M{\"a}rz, W. and Parra, E. J. and Cruz, M. and Gudnason, V. and Tardif, J. C. and Lettre, G. and {\textquoteright}t Hart, L. M. and Elders, P. J. M. and Damrauer, S. M. and Kumari, M. and Kivimaki, M. and van der Harst, P. and Spector, T. D. and Loos, R. J. F. and Province, M. A. and Psaty, B. M. and Brandslund, I. and Pramstaller, P. P. and Christensen, K. and Ripatti, S. and Wid{\'e}n, E. and Hakonarson, H. and Grant, S. F. A. and Kiemeney, L. A. L. M. and de Graaf, J. and Loeffler, M. and Kronenberg, F. and Gu, D. and Erdmann, J. and Schunkert, H. and Franks, P. W. and Linneberg, A. and Jukema, J. W. and Khera, A. V. and M{\"a}nnikk{\"o}, M. and Jarvelin, M. R. and Kutalik, Z. and Cucca, F. and Mook-Kanamori, D. O. and van Dijk, K. W. and Watkins, H. and Strachan, D. P. and Grarup, N. and Sever, P. and Poulter, N. and Rotter, J. I. and Dantoft, T. M. and Karpe, F. and Neville, M. J. and Timpson, N. J. and Cheng, C. Y. and Wong, T. Y. and Khor, C. C. and Sabanayagam, C. and Peters, A. and Gieger, C. and Hattersley, A. T. and Pedersen, N. L. and Magnusson, P. K. E. and Boomsma, D. I. and de Geus, E. J. C. and Cupples, L. A. and van Meurs, J. B. J. and Ghanbari, M. and Gordon-Larsen, P. and Huang, W. and Kim, Y. J. and Tabara, Y. and Wareham, N. J. and Langenberg, C. and Zeggini, E. and Kuusisto, J. and Laakso, M. and Ingelsson, E. and Abecasis, G. and Chambers, J. C. and Kooner, J. S. and de Vries, P. S. and Morrison, A. C. and North, K. E. and Daviglus, M. and Kraft, P. and Martin, N. G. and Whitfield, J. B. and Abbas, S. and Saleheen, D. and Walters, R. G. and Holmes, M. V. and Black, C. and Smith, B. H. and Justice, A. E. and Baras, A. and Buring, J. E. and Ridker, P. M. and Chasman, D. I. and Kooperberg, C. and Wei, W. Q. and Jarvik, G. P. and Namjou, B. and Hayes, M. G. and Ritchie, M. D. and Jousilahti, P. and Salomaa, V. and Hveem, K. and {\r A}svold, B. O. and Kubo, M. and Kamatani, Y. and Okada, Y. and Murakami, Y. and Thorsteinsdottir, U. and Stefansson, K. and Ho, Y. L. and Lynch, J. A. and Rader, D. J. and Tsao, P. S. and Chang, K. M. and Cho, K. and O{\textquoteright}Donnell, C. J. and Gaziano, J. M. and Wilson, P. and Rotimi, C. N. and Hazelhurst, S. and Ramsay, M. and Trembath, R. C. and van Heel, D. A. and Tamiya, G. and Yamamoto, M. and Kim, B. J. and Mohlke, K. L. and Frayling, T. M. and Hirschhorn, J. N. and Kathiresan, S. and Boehnke, M. and Natarajan, P. and Peloso, G. M. and Brown, C. D. and Morris, A. P. and Assimes, T. L. and Deloukas, P. and Sun, Y. V. and Willer, C. J.}
}
@article {9250,
	title = {{Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis},
	journal = {Genome Biol},
	volume = {23},
	year = {2022},
	month = {Dec},
	pages = {268},
	abstract = {Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.\ 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3-5\% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism.\ Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.},
	author = {Kanoni, S. and Graham, S. E. and Wang, Y. and Surakka, I. and Ramdas, S. and Zhu, X. and Clarke, S. L. and Bhatti, K. F. and Vedantam, S. and Winkler, T. W. and Locke, A. E. and Marouli, E. and Zajac, G. J. M. and Wu, K. H. and Ntalla, I. and Hui, Q. and Klarin, D. and Hilliard, A. T. and Wang, Z. and Xue, C. and Thorleifsson, G. and Helgadottir, A. and Gudbjartsson, D. F. and Holm, H. and Olafsson, I. and Hwang, M. Y. and Han, S. and Akiyama, M. and Sakaue, S. and Terao, C. and Kanai, M. and Zhou, W. and Brumpton, B. M. and Rasheed, H. and Havulinna, A. S. and Veturi, Y. and Pacheco, J. A. and Rosenthal, E. A. and Lingren, T. and Feng, Q. and Kullo, I. J. and Narita, A. and Takayama, J. and Martin, H. C. and Hunt, K. A. and Trivedi, B. and Haessler, J. and Giulianini, F. and Bradford, Y. and Miller, J. E. and Campbell, A. and Lin, K. and Millwood, I. Y. and Rasheed, A. and Hindy, G. and Faul, J. D. and Zhao, W. and Weir, D. R. and Turman, C. and Huang, H. and Graff, M. and Choudhury, A. and Sengupta, D. and Mahajan, A. and Brown, M. R. and Zhang, W. and Yu, K. and Schmidt, E. M. and Pandit, A. and Gustafsson, S. and Yin, X. and Luan, J. and Zhao, J. H. and Matsuda, F. and Jang, H. M. and Yoon, K. and Medina-Gomez, C. and Pitsillides, A. and Hottenga, J. J. and Wood, A. R. and Ji, Y. and Gao, Z. and Haworth, S. and Yousri, N. A. and Mitchell, R. E. and Chai, J. F. and Aadahl, M. and Bjerregaard, A. A. and Yao, J. and Manichaikul, A. and Hwu, C. M. and Hung, Y. J. and Warren, H. R. and Ramirez, J. and Bork-Jensen, J. and rhus, L. L. and Goel, A. and Sabater-Lleal, M. and Noordam, R. and Mauro, P. and Matteo, F. and McDaid, A. F. and Marques-Vidal, P. and Wielscher, M. and Trompet, S. and Sattar, N. and llehave, L. T. and Munz, M. and Zeng, L. and Huang, J. and Yang, B. and Poveda, A. and Kurbasic, A. and Lamina, C. and Forer, L. and Scholz, M. and Galesloot, T. E. and Bradfield, J. P. and Ruotsalainen, S. 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}
@article {9644,
	title = {{A genetic association study of circulating coagulation Factor VIII and von Willebrand Factor levels},
	journal = {Blood},
	year = {2024},
	month = {Feb},
	abstract = {10-9) at seven new loci for FVIII (ST3GAL4, CLEC4M, B3GNT2, ASGR1, F12, KNG1, and TREM1/NCR2) and one for VWF (B3GNT2). VWF, ABO, and STAB2 were associated with FVIII and VWF in gene-based analyses. Multi-phenotype analysis of FVIII and VWF identified another three new loci, including PDIA3. Silencing of B3GNT2 and the previously reported CD36 gene decreased release of FVIII by HLECs, while silencing of B3GNT2, CD36, and PDIA3 decreased release of VWF by HVECs. Mendelian randomization supports causal association of higher FVIII and VWF with increased risk of thrombotic outcomes. Seven new loci were identified for FVIII and one for VWF, with evidence supporting causal associations of FVIII and VWF with thrombotic outcomes. B3GNT2, CD36, and PDIA3 modulate the release of FVIII and/or VWF in vitro.},
	author = {de Vries, P. S. and Reventun, P. and Brown, M. R. and Heath, A. S. and Huffman, J. E. and Le, N. Q. and Bebo, A. and Brody, J. A. and Temprano-Sagrera, G. and Raffield, L. M. and Ozel, A. B. and Thibord, F. and Jain, D. and Lewis, J. P. and Rodriguez, B. A. T. and Pankratz, N. and Taylor, K. D. and Polasek, O. and Chen, M. H. and Yanek, L. R. and Carrasquilla, G. D. and Marioni, R. and Kleber, M. E. and t, D. A. and Yao, J. and Li-Gao, R. and Joshi, P. K. and Trompet, S. and Martinez-Perez, A. and Ghanbari, M. and Howard, T. E. and Reiner, A. P. and Arvanitis, M. and Ryan, K. A. and Bartz, T. M. and Rudan, I. and Faraday, N. and Linneberg, A. and Ekunwe, L. and Davies, G. and Delgado, G. E. and Suchon, P. and Guo, X. and Rosendaal, F. R. and Klaric, L. and Noordam, R. and van Rooij, F. and Curran, J. E. and Wheeler, M. M. and Osburn, W. O. and O{\textquoteright}Connell, J. R. and Boerwinkle, E. and Beswick, A. and Psaty, B. M. and Kolcic, I. and Souto, J. C. and Becker, L. C. and Hansen, T. and Doyle, M. F. and Harris, S. E. and Moissl, A. P. and Deleuze, J. F. and Rich, S. S. and van Hylckama Vlieg, A. and Campbell, H. and Stott, D. J. and Soria, J. M. and de Maat, M. P. M. and Almasy, L. and Brody, L. C. and Auer, P. L. and Mitchell, B. D. and Ben-Shlomo, Y. and Fornage, M. and Hayward, C. and Mathias, R. A. and inen, T. O. and Lange, L. A. and Cox, S. R. and rz, W. and Morange, P. E. and Rotter, J. I. and Mook-Kanamori, D. O. and Wilson, J. F. and van der Harst, P. and Jukema, J. W. and Ikram, M. A. and Blangero, J. and Kooperberg, C. and Desch, K. C. and Johnson, A. D. and Sabater-Lleal, M. and Lowenstein, C. J. and Smith, N. L. and Morrison, A. C.}
}
