@article {9103,
	title = {{Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases},
	journal = {JCI Insight},
	volume = {7},
	year = {2022},
	month = {05},
	abstract = {Uromodulin (UMOD) is a major risk gene for monogenic and complex forms of kidney disease. The encoded kidney-specific protein uromodulin is highly abundant in urine and related to chronic kidney disease, hypertension, and pathogen defense. To gain insights into potential systemic roles, we performed genome-wide screens of circulating uromodulin using complementary antibody-based and aptamer-based assays. We detected 3 and 10 distinct significant loci, respectively. Integration of antibody-based results at the UMOD locus with functional genomics data (RNA-Seq, ATAC-Seq, Hi-C) of primary human kidney tissue highlighted an upstream variant with differential accessibility and transcription in uromodulin-synthesizing kidney cells as underlying the observed cis effect. Shared association patterns with complex traits, including chronic kidney disease and blood pressure, placed the PRKAG2 locus in the same pathway as UMOD. Experimental validation of the third antibody-based locus, B4GALNT2, showed that the p.Cys466Arg variant of the encoded N-acetylgalactosaminyltransferase had a loss-of-function effect leading to higher serum uromodulin levels. Aptamer-based results pointed to enzymes writing glycan marks present on uromodulin and to their receptors in the circulation, suggesting that this assay permits investigating uromodulin{\textquoteright}s complex glycosylation rather than its quantitative levels. Overall, our study provides insights into circulating uromodulin and its emerging functions.},
	author = {Li, Y. and Cheng, Y. and Consolato, F. and Schiano, G. and Chong, M. R. and Pietzner, M. and Nguyen, N. Q. H. and Scherer, N. and Biggs, M. L. and Kleber, M. E. and Haug, S. and G{\"o}{\c c}men, B. and Pigeyre, M. and Sekula, P. and Steinbrenner, I. and Schlosser, P. and Joseph, C. B. and Brody, J. A. and Grams, M. E. and Hayward, C. and Schultheiss, U. T. and Kr{\"a}mer, B. K. and Kronenberg, F. and Peters, A. and Seissler, J. and Steubl, D. and Then, C. and Wuttke, M. and M{\"a}rz, W. and Eckardt, K. U. and Gieger, C. and Boerwinkle, E. and Psaty, B. M. and Coresh, J. and Oefner, P. J. and Pare, G. and Langenberg, C. and Scherberich, J. E. and Yu, B. and Akilesh, S. and Devuyst, O. and Rampoldi, L. and K{\"o}ttgen, A.}
}
@article {9546,
	title = {{Identification of circulating proteins associated with general cognitive function among middle-aged and older adults},
	journal = {Commun Biol},
	volume = {6},
	year = {2023},
	month = {Nov},
	pages = {1117},
	abstract = {2.0E-4). Proteins implicated as causes or consequences of AD susceptibility may provide new insight into the potential relationship between immunity and AD susceptibility as well as potential therapeutic targets.},
	author = {Tin, A. and Fohner, A. E. and Yang, Q. and Brody, J. A. and Davies, G. and Yao, J. and Liu, D. and Caro, I. and Lindbohm, J. V. and Duggan, M. R. and Meirelles, O. and Harris, S. E. and Gudmundsdottir, V. and Taylor, A. M. and Henry, A. and Beiser, A. S. and Shojaie, A. and Coors, A. and Fitzpatrick, A. L. and Langenberg, C. and Satizabal, C. L. and Sitlani, C. M. and Wheeler, E. and Tucker-Drob, E. M. and Bressler, J. and Coresh, J. and Bis, J. C. and Candia, J. and Jennings, L. L. and Pietzner, M. and Lathrop, M. and Lopez, O. L. and Redmond, P. and Gerszten, R. E. and Rich, S. S. and Heckbert, S. R. and Austin, T. R. and Hughes, T. M. and Tanaka, T. and Emilsson, V. and Vasan, R. S. and Guo, X. and Zhu, Y. and Tzourio, C. and Rotter, J. I. and Walker, K. A. and Ferrucci, L. and ki, M. and Breteler, M. M. B. and Cox, S. R. and Debette, S. and Mosley, T. H. and Gudnason, V. G. and Launer, L. J. and Psaty, B. M. and Seshadri, S. and Fornage, M.}
}
@article {9618,
	title = {{Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications},
	journal = {Nat Commun},
	volume = {15},
	year = {2024},
	month = {Jan},
	pages = {888},
	abstract = {T3, whereas the FT4 associations represent the thyroid hormone metabolism. Polygenic risk score and Mendelian randomization analyses showed the effects of genetically determined variation in thyroid function on various clinical outcomes, including cardiovascular risk factors and diseases, autoimmune diseases, and cancer. In conclusion, our results improve the understanding of thyroid hormone physiology and highlight the pleiotropic effects of thyroid function on various diseases.},
	author = {Sterenborg, R. B. T. M. and Steinbrenner, I. and Li, Y. and Bujnis, M. N. and Naito, T. and Marouli, E. and Galesloot, T. E. and Babajide, O. and Andreasen, L. and Astrup, A. and svold, B. O. and Bandinelli, S. and Beekman, M. and Beilby, J. P. and Bork-Jensen, J. and Boutin, T. and Brody, J. A. and Brown, S. J. and Brumpton, B. and Campbell, P. J. and Cappola, A. R. and Ceresini, G. and Chaker, L. and Chasman, D. I. and Concas, M. P. and Coutinho de Almeida, R. and Cross, S. M. and Cucca, F. and Deary, I. J. and Kjaergaard, A. D. and Echouffo Tcheugui, J. B. and Ellervik, C. and Eriksson, J. G. and Ferrucci, L. and Freudenberg, J. and Fuchsberger, C. and Gieger, C. and Giulianini, F. and gele, M. and Graham, S. E. and Grarup, N. and {\"a}, I. and Hansen, T. and Harding, B. N. and Harris, S. E. and {\o}, S. and Hayward, C. and Hui, J. and Ittermann, T. and Jukema, J. W. and Kajantie, E. and Kanters, J. K. and rhus, L. L. and Kiemeney, L. A. L. M. and Kloppenburg, M. and hnel, B. and Lahti, J. and Langenberg, C. and Lapauw, B. and Leese, G. and Li, S. and Liewald, D. C. M. and Linneberg, A. and Lominchar, J. V. T. and Luan, J. and Martin, N. G. and Matana, A. and Meima, M. E. and Meitinger, T. and Meulenbelt, I. and Mitchell, B. D. and llehave, L. T. and Mora, S. and Naitza, S. and Nauck, M. and Netea-Maier, R. T. and Noordam, R. and Nursyifa, C. and Okada, Y. and Onano, S. and Papadopoulou, A. and Palmer, C. N. A. and Pattaro, C. and Pedersen, O. and Peters, A. and Pietzner, M. and ek, O. and Pramstaller, P. P. and Psaty, B. M. and Punda, A. and Ray, D. and Redmond, P. and Richards, J. B. and Ridker, P. M. and Russ, T. C. and Ryan, K. A. and Olesen, M. S. and Schultheiss, U. T. and Selvin, E. and Siddiqui, M. K. and Sidore, C. and Slagboom, P. E. and rensen, T. I. A. and Soto-Pedre, E. and Spector, T. D. and Spedicati, B. and Srinivasan, S. and Starr, J. M. and Stott, D. J. and Tanaka, T. and Torlak, V. and Trompet, S. and Tuhkanen, J. and Uitterlinden, A. G. and van den Akker, E. B. and van den Eynde, T. and van der Klauw, M. M. and van Heemst, D. and Verroken, C. and Visser, W. E. and Vojinovic, D. and lzke, H. and Waldenberger, M. and Walsh, J. P. and Wareham, N. J. and Weiss, S. and Willer, C. J. and Wilson, S. G. and Wolffenbuttel, B. H. R. and Wouters, H. J. C. M. and Wright, M. J. and Yang, Q. and Zemunik, T. and Zhou, W. and Zhu, G. and llner, S. and Smit, J. W. A. and Peeters, R. P. and ttgen, A. and Teumer, A. and Medici, M.}
}
