@article {8532,
	title = {{Omega-3 Fatty Acids and Genome-Wide Interaction Analyses Reveal DPP10-Pulmonary Function Association},
	journal = {Am J Respir Crit Care Med},
	volume = {199},
	year = {2019},
	month = {03},
	pages = {631{\textendash}642},
	abstract = {Omega-3 polyunsaturated fatty acids (n-3 PUFAs) have anti-inflammatory properties that could benefit adults with comprised pulmonary health.\ To investigate n-3 PUFA associations with spirometric measures of pulmonary function tests (PFTs) and determine underlying genetic susceptibility.\ Associations of n-3 PUFA biomarkers ({\^I}{\textpm}-linolenic acid, eicosapentaenoic acid, docosapentaenoic acid [DPA], and docosahexaenoic acid [DHA]) were evaluated with PFTs (FEV1, FVC, and FEV1/FVC) in meta-analyses across seven cohorts from the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (N = 16,134 of European or African ancestry). PFT-associated n-3 PUFAs were carried forward to genome-wide interaction analyses in the four largest cohorts (N = 11,962) and replicated in one cohort (N = 1,687). Cohort-specific results were combined using joint 2 degree-of-freedom (2df) meta-analyses of SNP associations and their interactions with n-3 PUFAs.\ DPA and DHA were positively associated with FEV1 and FVC (P < 0.025), with evidence for effect modification by smoking and by sex. Genome-wide analyses identified a novel association of rs11693320-an intronic DPP10 SNP-with FVC when incorporating an interaction with DHA, and the finding was replicated (P2df = 9.4 {\~A}{\textemdash} 10-9 across discovery and replication cohorts). The rs11693320-A allele (frequency, {\^a}{\textasciicircum}{\textonequarter}80\%) was associated with lower FVC (PSNP = 2.1 {\~A}{\textemdash} 10-9; {\^I}{\texttwosuperior}SNP = -161.0 ml), and the association was attenuated by higher DHA levels (PSNP{\~A}{\textemdash}DHA interaction = 2.1 {\~A}{\textemdash} 10-7; {\^I}{\texttwosuperior}SNP{\~A}{\textemdash}DHA interaction = 36.2 ml).\ We corroborated beneficial effects of n-3 PUFAs on pulmonary function. By modeling genome-wide n-3 PUFA interactions, we identified a novel DPP10 SNP association with FVC that was not detectable in much larger studies ignoring this interaction.},
	author = {Xu, J. and Gaddis, N. C. and Bartz, T. M. and Hou, R. and Manichaikul, A. W. and Pankratz, N. and Smith, A. V. and Sun, F. and Terzikhan, N. and Markunas, C. A. and Patchen, B. K. and Schu, M. and Beydoun, M. A. and Brusselle, G. G. and Eiriksdottir, G. and Zhou, X. and Wood, A. C. and Graff, M. and Harris, T. B. and Ikram, M. A. and Jacobs, D. R. and Launer, L. J. and Lemaitre, R. N. and O{\textquoteright}Connor, G. T. and Oelsner, E. C. and Psaty, B. M. and Vasan, R. S. and Rohde, R. R. and Rich, S. S. and Rotter, J. I. and Seshadri, S. and Smith, L. J. and Tiemeier, H. and Tsai, M. Y. and Uitterlinden, A. G. and Voruganti, V. S. and Xu, H. and Zilh?o, N. R. and Fornage, M. and Zillikens, M. C. and London, S. J. and Barr, R. G. and Dupuis, J. and Gharib, S. A. and Gudnason, V. and Lahousse, L. and North, K. E. and Steffen, L. M. and Cassano, P. A. and Hancock, D. B.}
}
@article {8783,
	title = {{Epigenome-wide association meta-analysis of DNA methylation with coffee and tea consumption},
	journal = {Nat Commun},
	volume = {12},
	year = {2021},
	month = {05},
	pages = {2830},
	abstract = {10.1038/s41467-021-22752-6Coffee and tea are extensively consumed beverages worldwide which have received considerable attention regarding health. Intake of these beverages is consistently linked to, among others, reduced risk of diabetes and liver diseases; however, the mechanisms of action remain elusive. Epigenetics is suggested as a mechanism mediating the effects of dietary and lifestyle factors on disease onset. Here we report the results from epigenome-wide association studies (EWAS) on coffee and tea consumption in 15,789 participants of European and African-American ancestries from 15 cohorts. EWAS meta-analysis of coffee consumption reveals 11 CpGs surpassing the epigenome-wide significance threshold (P-value <1.1{\texttimes}10-7), which annotated to the AHRR, F2RL3, FLJ43663, HDAC4, GFI1 and PHGDH genes. Among them, cg14476101 is significantly associated with expression of the PHGDH and risk of fatty liver disease. Knockdown of PHGDH expression in liver cells shows a correlation with expression levels of genes associated with circulating lipids, suggesting a role of PHGDH in hepatic-lipid metabolism. EWAS meta-analysis on tea consumption reveals no significant association, only two CpGs annotated to CACNA1A and PRDM16 genes show suggestive association (P-value <5.0{\texttimes}10-6). These findings indicate that coffee-associated changes in DNA methylation levels may explain the mechanism of action of coffee consumption in conferring risk of diseases.},
	author = {Karabegovi{\'c}, I. and Portilla-Fernandez, E. and Li, Y. and Ma, J. and Maas, S. C. E. and Sun, D. and Hu, E. A. and K{\"u}hnel, B. and Zhang, Y. and Ambatipudi, S. and Fiorito, G. and Huang, J. and Castillo-Fernandez, J. E. and Wiggins, K. L. and de Klein, N. and Grioni, S. and Swenson, B. R. and Polidoro, S. and Treur, J. L. and Cuenin, C. and Tsai, P. C. and Costeira, R. and Chajes, V. and Braun, K. and Verweij, N. and Kretschmer, A. and Franke, L. and van Meurs, J. B. J. and Uitterlinden, A. G. and de Knegt, R. J. and Ikram, M. A. and Dehghan, A. and Peters, A. and Sch{\"o}ttker, B. and Gharib, S. A. and Sotoodehnia, N. and Bell, J. T. and Elliott, P. and Vineis, P. and Relton, C. and Herceg, Z. and Brenner, H. and Waldenberger, M. and Rebholz, C. M. and Voortman, T. and Pan, Q. and Fornage, M. and Levy, D. and Kayser, M. and Ghanbari, M.}
}
@article {8917,
	title = {{Rare and low-frequency exonic variants and gene-by-smoking interactions in pulmonary function},
	journal = {Sci Rep},
	volume = {11},
	year = {2021},
	month = {09},
	pages = {19365},
	abstract = {. This study investigates the utility of assessing gene-by-smoking interactions and underscores their effects on potential pulmonary function.},
	author = {Yang, T. and Jackson, V. E. and Smith, A. V. and Chen, H. and Bartz, T. M. and Sitlani, C. M. and Psaty, B. M. and Gharib, S. A. and O{\textquoteright}Connor, G. T. and Dupuis, J. and Xu, J. and Lohman, K. and Liu, Y. and Kritchevsky, S. B. and Cassano, P. A. and Flexeder, C. and Gieger, C. and Karrasch, S. and Peters, A. and Schulz, H. and Harris, S. E. and Starr, J. M. and Deary, I. J. and Manichaikul, A. and Oelsner, E. C. and Barr, R. G. and Taylor, K. D. and Rich, S. S. and Bonten, T. N. and Mook-Kanamori, D. O. and Noordam, R. and Li-Gao, R. and Jarvelin, M. R. and Wielscher, M. and Terzikhan, N. and Lahousse, L. and Brusselle, G. and Weiss, S. and Ewert, R. and Gl{\"a}ser, S. and Homuth, G. and Shrine, N. and Hall, I. P. and Tobin, M. and London, S. J. and Wei, P. and Morrison, A. C.}
}
@article {9186,
	title = {{Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways},
	journal = {Nat Commun},
	volume = {13},
	year = {2022},
	month = {09},
	pages = {5144},
	abstract = {250,000 individuals) we identify 177, 156 and 121 independent loci for QT, JT and QRS, respectively, including a male-specific X-chromosome locus. Using gene-based rare-variant methods, we identify associations with Mendelian disease genes. Enrichments are observed in established pathways for QT and JT, and previously unreported genes indicated in insulin-receptor signalling and cardiac energy metabolism. In contrast for QRS, connective tissue components and processes for cell growth and extracellular matrix interactions are significantly enriched. We demonstrate polygenic risk score associations with atrial fibrillation, conduction disease and sudden cardiac death. Prioritization of druggable genes highlight potential therapeutic targets for arrhythmia. Together, these results substantially advance our understanding of the genetic architecture of ventricular depolarization and repolarization.},
	author = {Young, W. J. and Lahrouchi, N. and Isaacs, A. and Duong, T. and Foco, L. and Ahmed, F. and Brody, J. A. and Salman, R. and Noordam, R. and Benjamins, J. W. and Haessler, J. and Lyytik{\"a}inen, L. P. and Repetto, L. and Concas, M. P. and van den Berg, M. E. and Weiss, S. and Baldassari, A. R. and Bartz, T. M. and Cook, J. P. and Evans, D. S. and Freudling, R. and Hines, O. and Isaksen, J. L. and Lin, H. and Mei, H. and Moscati, A. and M{\"u}ller-Nurasyid, M. and Nursyifa, C. and Qian, Y. and Richmond, A. and Roselli, C. and Ryan, K. A. and Tarazona-Santos, E. and Th{\'e}riault, S. and van Duijvenboden, S. and Warren, H. R. and Yao, J. and Raza, D. and Aeschbacher, S. and Ahlberg, G. and Alonso, A. and Andreasen, L. and Bis, J. C. and Boerwinkle, E. and Campbell, A. and Catamo, E. and Cocca, M. and Cutler, M. J. and Darbar, D. and De Grandi, A. and De Luca, A. and Ding, J. and Ellervik, C. and Ellinor, P. T. and Felix, S. B. and Froguel, P. and Fuchsberger, C. and G{\"o}gele, M. and Graff, C. and Graff, M. and Guo, X. and Hansen, T. and Heckbert, S. R. and Huang, P. L. and Huikuri, H. V. and Hutri-K{\"a}h{\"o}nen, N. and Ikram, M. A. and Jackson, R. D. and Junttila, J. and Kavousi, M. and Kors, J. A. and Leal, T. P. and Lemaitre, R. N. and Lin, H. J. and Lind, L. and Linneberg, A. and Liu, S. and Macfarlane, P. W. and Mangino, M. and Meitinger, T. and Mezzavilla, M. and Mishra, P. P. and Mitchell, R. N. and Mononen, N. and Montasser, M. E. and Morrison, A. C. and Nauck, M. and Nauffal, V. and Navarro, P. and Nikus, K. and Pare, G. and Patton, K. K. and Pelliccione, G. and Pittman, A. and Porteous, D. J. and Pramstaller, P. P. and Preuss, M. H. and Raitakari, O. T. and Reiner, A. P. and Ribeiro, A. L. P. and Rice, K. M. and Risch, L. and Schlessinger, D. and Schotten, U. and Schurmann, C. and Shen, X. and Shoemaker, M. B. and Sinagra, G. and Sinner, M. F. and Soliman, E. Z. and Stoll, M. and Strauch, K. and Tarasov, K. and Taylor, K. D. and Tinker, A. and Trompet, S. and Uitterlinden, A. and V{\"o}lker, U. and V{\"o}lzke, H. and Waldenberger, M. and Weng, L. C. and Whitsel, E. A. and Wilson, J. G. and Avery, C. L. and Conen, D. and Correa, A. and Cucca, F. and D{\"o}rr, M. and Gharib, S. A. and Girotto, G. and Grarup, N. and Hayward, C. and Jamshidi, Y. and Jarvelin, M. R. and Jukema, J. W. and K{\"a}{\"a}b, S. and K{\"a}h{\"o}nen, M. and Kanters, J. K. and Kooperberg, C. and Lehtim{\"a}ki, T. and Lima-Costa, M. F. and Liu, Y. and Loos, R. J. F. and Lubitz, S. A. and Mook-Kanamori, D. O. and Morris, A. P. and O{\textquoteright}Connell, J. R. and Olesen, M. S. and Orini, M. and Padmanabhan, S. and Pattaro, C. and Peters, A. and Psaty, B. M. and Rotter, J. I. and Stricker, B. and van der Harst, P. and van Duijn, C. M. and Verweij, N. and Wilson, J. F. and Arking, D. E. and Ramirez, J. and Lambiase, P. D. and Sotoodehnia, N. and Mifsud, B. and Newton-Cheh, C. and Munroe, P. B.}
}
@article {9576,
	title = {{Genome-wide association study of preserved ratio impaired spirometry (PRISm)},
	journal = {Eur Respir J},
	volume = {63},
	year = {2024},
	month = {Jan},
	abstract = {{0.70. PRISm is associated with respiratory symptoms and comorbidities. Our objective was to discover novel genetic signals for PRISm and see if they provide insight into the pathogenesis of PRISm and associated comorbidities.\ We undertook a genome-wide association study (GWAS) of PRISm in UK Biobank participants (Stage 1), and selected single nucleotide polymorphisms (SNPs) reaching genome-wide significance for replication in 13 cohorts (Stage 2). A combined meta-analysis of Stage 1 and Stage 2 was done to determine top SNPs. We used cross-trait linkage disequilibrium score regression to estimate genome-wide genetic correlation between PRISm and pulmonary and extrapulmonary traits. Phenome-wide association studies of top SNPs were performed.\ =0.12},
	author = {Higbee, D. H. and Lirio, A. and Hamilton, F. and Granell, R. and Wyss, A. B. and London, S. J. and Bartz, T. M. and Gharib, S. A. and Cho, M. H. and Wan, E. and Silverman, E. and Crapo, J. D. and Lominchar, J. V. T. and Hansen, T. and Grarup, N. and Dantoft, T. and rhus, L. and Linneberg, A. and O{\textquoteright}Connor, G. T. and Dupuis, J. and Xu, H. and De Vries, M. M. and Hu, X. and Rich, S. S. and Barr, R. G. and Manichaikul, A. and Wijnant, S. R. A. and Brusselle, G. G. and Lahousse, L. and Li, X. and ndez Cordero, A. I. and Obeidat, M. and Sin, D. D. and Harris, S. E. and Redmond, P. and Taylor, A. M. and Cox, S. R. and Williams, A. T. and Shrine, N. and John, C. and Guyatt, A. L. and Hall, I. P. and Davey Smith, G. and Tobin, M. D. and Dodd, J. W.}
}
