Sorokin I, Mamoulakis C, Miyazawa K, Rodgers A, Talati J, Lotan Y (2017) Epidemiology of stone disease across the world. World J Urol 35:1301–1320. https://doi.org/10.1007/s00345-017-2008-6
Thongprayoon C, Krambeck AE, Rule AD (2020) Determining the true burden of kidney stone disease. Nat Rev Nephrol 16:736–746. https://doi.org/10.1038/s41581-020-0320-7
Tasian GE, Kabarriti AE, Kalmus A, Furth SL (2017) Kidney stone recurrence among children and adolescents. J Urol 197:246–252. https://doi.org/10.1016/j.juro.2016.07.090
Howles SA, Thakker RV (2020) Genetics of kidney stone disease. Nat Rev Urol 17:407–421. https://doi.org/10.1038/s41585-020-0332-x
Sekula P, Del Greco FM, Pattaro C, Köttgen A (2016) Mendelian randomization as an approach to assess causality using observational data. J Am Soc Nephrol 27:3253–3265. https://doi.org/10.1681/ASN.2016010098
Article PubMed PubMed Central Google Scholar
Zhang N, Li Y, Sundquist J, Sundquist K, Ji J (2023) Identifying actionable druggable targets for breast cancer: Mendelian randomization and population-based analyses. EBioMedicine. https://doi.org/10.1016/j.ebiom.2023.104859
Article PubMed PubMed Central Google Scholar
Sun X, Chen B, Qi Y, Wei M, Chen W, Wu X, Wang Q, Li J, Lei X, Luo G (2024) Multi-omics Mendelian randomization integrating GWAS, eQTL and pQTL data revealed GSTM4 as a potential drug target for migraine. J Headache Pain 25:117. https://doi.org/10.1186/s10194-024-01828-w
Article CAS PubMed PubMed Central Google Scholar
Sun H, Li L, Yan J, Huang T (2024) Prioritization of drug targets for thyroid cancer: a multi-omics Mendelian randomization study. Endocrine. https://doi.org/10.1007/s12020-024-03933-x
Yang Y, Hu P, Zhang Q, Ma B, Chen J, Wang B, Ma J, Liu D, Hao J, Zhou X (2024) Single-cell and genome-wide Mendelian randomization identifies causative genes for gout. Arthritis Res Ther 26:114. https://doi.org/10.1186/s13075-024-03348-z
Article CAS PubMed PubMed Central Google Scholar
U. Võsa, A. Claringbould, H.-J. Westra, M.J. Bonder, P. Deelen, B. Zeng, H. Kirsten, A. Saha, R. Kreuzhuber, S. Yazar, H. Brugge, R. Oelen, D.H. de Vries, M.G.P. van der Wijst, S. Kasela, N. Pervjakova, I. Alves, M.-J. Favé, M. Agbessi, M.W. Christiansen, R. Jansen, I. Seppälä, L. Tong, A. Teumer, K. Schramm, G. Hemani, J. Verlouw, H. Yaghootkar, R. Sönmez Flitman, A. Brown, V. Kukushkina, A. Kalnapenkis, S. Rüeger, E. Porcu, J. Kronberg, J. Kettunen, B. Lee, F. Zhang, T. Qi, J.A. Hernandez, W. Arindrarto, F. Beutner, BIOS Consortium, i2QTL Consortium, J. Dmitrieva, M. Elansary, B.P. Fairfax, M. Georges, B.T. Heijmans, A.W. Hewitt, M. Kähönen, Y. Kim, J.C. Knight, P. Kovacs, K. Krohn, S. Li, M. Loeffler, U.M. Marigorta, H. Mei, Y. Momozawa, M. Müller-Nurasyid, M. Nauck, M.G. Nivard, B.W.J.H. Penninx, J.K. Pritchard, O.T. Raitakari, O. Rotzschke, E.P. Slagboom, C.D.A. Stehouwer, M. Stumvoll, P. Sullivan, P.A.C. ’t Hoen, J. Thiery, A. Tönjes, J. van Dongen, M. van Iterson, J.H. Veldink, U. Völker, R. Warmerdam, C. Wijmenga, M. Swertz, A. Andiappan, G.W. Montgomery, S. Ripatti, M. Perola, Z. Kutalik, E. Dermitzakis, S. Bergmann, T. Frayling, J. van Meurs, H. Prokisch, H. Ahsan, B.L. Pierce, T. Lehtimäki, D.I. Boomsma, B.M. Psaty, S.A. Gharib, P. Awadalla, L. Milani, W.H. Ouwehand, K. Downes, O. Stegle, A. Battle, P.M. Visscher, J. Yang, M. Scholz, J. Powell, G. Gibson, T. Esko, L. Franke, Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression, Nat Genet 53 (2021) 1300–1310. https://doi.org/10.1038/s41588-021-00913-z.
GTEx Consortium (2015) Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science 348:648–660. https://doi.org/10.1126/science.1262110
Article CAS PubMed Central Google Scholar
Identification of 55,000 Replicated DNA Methylation QTL | Scientific Reports, (n.d.). https://www.nature.com/articles/s41598-018-35871-w (accessed August 11, 2024)
Integrative analysis of omics summary data reveals putative mechanisms underlying complex traits | Nature Communications, (n.d.). https://www.nature.com/articles/s41467-018-03371-0 (accessed August 11, 2024)
Sun BB, Maranville JC, Peters JE, Stacey D, Staley JR, Blackshaw J, Burgess S, Jiang T, Paige E, Surendran P, Oliver-Williams C, Kamat MA, Prins BP, Wilcox SK, Zimmerman ES, Chi A, Bansal N, Spain SL, Wood AM, Morrell NW, Bradley JR, Janjic N, Roberts DJ, Ouwehand WH, Todd JA, Soranzo N, Suhre K, Paul DS, Fox CS, Plenge RM, Danesh J, Runz H, Butterworth AS (2018) Genomic atlas of the human plasma proteome. Nature 558:73–79. https://doi.org/10.1038/s41586-018-0175-2
Article CAS PubMed PubMed Central Google Scholar
M.I. Kurki, J. Karjalainen, P. Palta, T.P. Sipilä, K. Kristiansson, K.M. Donner, M.P. Reeve, H. Laivuori, M. Aavikko, M.A. Kaunisto, A. Loukola, E. Lahtela, H. Mattsson, P. Laiho, P. Della Briotta Parolo, A.A. Lehisto, M. Kanai, N. Mars, J. Rämö, T. Kiiskinen, H.O. Heyne, K. Veerapen, S. Rüeger, S. Lemmelä, W. Zhou, S. Ruotsalainen, K. Pärn, T. Hiekkalinna, S. Koskelainen, T. Paajanen, V. Llorens, J. Gracia-Tabuenca, H. Siirtola, K. Reis, A.G. Elnahas, B. Sun, C.N. Foley, K. Aalto-Setälä, K. Alasoo, M. Arvas, K. Auro, S. Biswas, A. Bizaki-Vallaskangas, O. Carpen, C.-Y. Chen, O.A. Dada, Z. Ding, M.G. Ehm, K. Eklund, M. Färkkilä, H. Finucane, A. Ganna, A. Ghazal, R.R. Graham, E.M. Green, A. Hakanen, M. Hautalahti, Å.K. Hedman, M. Hiltunen, R. Hinttala, I. Hovatta, X. Hu, A. Huertas-Vazquez, L. Huilaja, J. Hunkapiller, H. Jacob, J.-N. Jensen, H. Joensuu, S. John, V. Julkunen, M. Jung, J. Junttila, K. Kaarniranta, M. Kähönen, R. Kajanne, L. Kallio, R. Kälviäinen, J. Kaprio, FinnGen, N. Kerimov, J. Kettunen, E. Kilpeläinen, T. Kilpi, K. Klinger, V.-M. Kosma, T. Kuopio, V. Kurra, T. Laisk, J. Laukkanen, N. Lawless, A. Liu, S. Longerich, R. Mägi, J. Mäkelä, A. Mäkitie, A. Malarstig, A. Mannermaa, J. Maranville, A. Matakidou, T. Meretoja, S.V. Mozaffari, M.E.K. Niemi, M. Niemi, T. Niiranen, C.J. O Donnell, M.E. Obeidat, G. Okafo, H.M. Ollila, A. Palomäki, T. Palotie, J. Partanen, D.S. Paul, M. Pelkonen, R.K. Pendergrass, S. Petrovski, A. Pitkäranta, A. Platt, D. Pulford, E. Punkka, P. Pussinen, N. Raghavan, F. Rahimov, D. Rajpal, N.A. Renaud, B. Riley-Gillis, R. Rodosthenous, E. Saarentaus, A. Salminen, E. Salminen, V. Salomaa, J. Schleutker, R. Serpi, H.-Y. Shen, R. Siegel, K. Silander, S. Siltanen, S. Soini, H. Soininen, J.H. Sul, I. Tachmazidou, K. Tasanen, P. Tienari, S. Toppila-Salmi, T. Tukiainen, T. Tuomi, J.A. Turunen, J.C. Ulirsch, F. Vaura, P. Virolainen, J. Waring, D. Waterworth, R. Yang, M. Nelis, A. Reigo, A. Metspalu, L. Milani, T. Esko, C. Fox, A.S. Havulinna, M. Perola, S. Ripatti, A. Jalanko, T. Laitinen, T.P. Mäkelä, R. Plenge, M. McCarthy, H. Runz, M.J. Daly, A. Palotie, FinnGen provides genetic insights from a well-phenotyped isolated population, Nature 613 (2023) 508–518. https://doi.org/10.1038/s41586-022-05473-8.
J.D. Backman, A.H. Li, A. Marcketta, D. Sun, J. Mbatchou, M.D. Kessler, C. Benner, D. Liu, A.E. Locke, S. Balasubramanian, A. Yadav, N. Banerjee, C.E. Gillies, A. Damask, S. Liu, X. Bai, A. Hawes, E. Maxwell, L. Gurski, K. Watanabe, J.A. Kosmicki, V. Rajagopal, J. Mighty, Regeneron Genetics Center, DiscovEHR, M. Jones, L. Mitnaul, E. Stahl, G. Coppola, E. Jorgenson, L. Habegger, W.J. Salerno, A.R. Shuldiner, L.A. Lotta, J.D. Overton, M.N. Cantor, J.G. Reid, G. Yancopoulos, H.M. Kang, J. Marchini, A. Baras, G.R. Abecasis, M.A.R. Ferreira, Exome sequencing and analysis of 454,787 UK Biobank participants, Nature 599 (2021) 628–634. https://doi.org/10.1038/s41586-021-04103-z.
Trinchieri A, Croppi E, Montanari E (2017) Obesity and urolithiasis: evidence of regional influences. Urolithiasis 45:271–278. https://doi.org/10.1007/s00240-016-0908-3
Liu C-C, Huang S-P, Wu W-J, Chou Y-H, Juo SH, Tsai L-Y, Huang C-H, Wu M-T (2009) The impact of cigarette smoking, alcohol drinking and betel quid chewing on the risk of calcium urolithiasis. Ann Epidemiol 19:539–545. https://doi.org/10.1016/j.annepidem.2009.02.006
Besiroglu H, Ozbek E (2019) Association between blood lipid profile and urolithiasis: a systematic review and meta-analysis of observational studies. Int J Urol 26:7–17. https://doi.org/10.1111/iju.13781
Article CAS PubMed Google Scholar
Wang H, Fan J, Yu C, Guo Y, Pei P, Yang L, Chen Y, Du H, Meng F, Chen J, Chen Z, Lv J, Li L (2021) null On Behalf Of The China Kadoorie Biobank Collaborative Group, Consumption of Tea, Alcohol, and Fruits and Risk of Kidney Stones: A Prospective Cohort Study in 0.5 Million Chinese Adults. Nutrients 13:1119. https://doi.org/10.3390/nu13041119
Article CAS PubMed PubMed Central Google Scholar
Zhu S, Fan Y, Hu X, Shao M (2023) Insights into risk factors for urolithiasis: a mendelian randomization study. BMC Urol 23:76. https://doi.org/10.1186/s12894-023-01243-4
Article CAS PubMed PubMed Central Google Scholar
Weinberg AE, Patel CJ, Chertow GM, Leppert JT (2014) Diabetic severity and risk of kidney stone disease. Eur Urol 65:242–247. https://doi.org/10.1016/j.eururo.2013.03.026
Jian Z, Huang Y, He Y, Jin X, Li H, Li S, Wang K (2022) Genetically predicted lifelong circulating 25(OH)D levels are associated with serum calcium levels and kidney stone risk. J Clin Endocrinol Metab 107:e1159–e1166. https://doi.org/10.1210/clinem/dgab758
Yuan S, Yu L, Gou W, Wang L, Sun J, Li D, Lu Y, Cai X, Yu H, Yuan C, Zheng J-S, Larsson SC, Theodoratou E, Li X (2022) Health effects of high serum calcium levels: Updated phenome-wide Mendelian randomisation investigation and review of Mendelian randomisation studies. EBioMedicine. https://doi.org/10.1016/j.ebiom.2022.103865
Article PubMed PubMed Central Google Scholar
Mantan M, Goel R, Gupta D, Mahajan B, Sethi M (2022) Diet, fluid intake, urine output and urinary sodium/potassium ratios in children with urolithiasis. Indian Pediatr 59:719–721. https://doi.org/10.1007/s13312-022-2603-5
Article PubMed PubMed Central Google Scholar
Zhu Z, Zhang F, Hu H, Bakshi A, Robinson MR, Powell JE, Montgomery GW, Goddard ME, Wray NR, Visscher PM, Yang J (2016) Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets. Nat Genet 48:481–487. https://doi.org/10.1038/ng.3538
Article CAS PubMed Google Scholar
Hemani G, Zheng J, Elsworth B, Wade KH, Haberland V, Baird D, Laurin C, Burgess S, Bowden J, Langdon R, Tan VY, Yarmolinsky J, Shihab HA, Timpson NJ, Evans DM, Relton C, Martin RM, Davey Smith G, Gaunt TR, Haycock PC (2018) The MR-Base platform supports systematic causal inference across the human phenome. Elife. https://doi.org/10.7554/eLife.34408
Article PubMed PubMed Central Google Scholar
Burgess S, Davey Smith G, Davies NM, Dudbridge F, Gill D, Glymour MM, Hartwig FP, Kutalik Z, Holmes MV, Minelli C, Morrison JV, Pan W, Relton CL, Theodoratou E (2019) Guidelines for performing Mendelian randomization investigations: update for summer 2023. Wellcome Open Res 4:186
Bowden J, Davey Smith G, Burgess S (2015) Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression. Int J Epidemiol 44:512–525. https://doi.org/10.1093/ije/dyv080
Article PubMed PubMed Central Google Scholar
Giambartolomei C, Vukcevic D, Schadt EE, Franke L, Hingorani AD, Wallace C, Plagnol V (2014) Bayesian test for colocalisation between pairs of genetic association studies using summary statistics. PLoS Genet. https://doi.org/10.1371/journal.pgen.1004383
Comments (0)