7 results on '"Yaspan, B. L."'
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2. Leveraging global multi-ancestry meta-analysis in the study of idiopathic pulmonary fibrosis genetics
- Author
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Partanen, J. J. (Juulia J.), Häppölä, P. (Paavo), Zhou, W. (Wei), Lehisto, A. A. (Arto A.), Ainola, M. (Mari), Sutinen, E. (Eva), Allen, R. J. (Richard J.), Stockwell, A. D. (Amy D.), Leavy, O. C. (Olivia C.), Oldham, J. M. (Justin M.), Guillen-Guio, B. (Beatriz), Cox, N. J. (Nancy J.), Hirbo, J. B. (Jibril B.), Schwartz, D. A. (David A.), Fingerlin, T. E. (Tasha E.), Flores, C. (Carlos), Noth, I. (Imre), Yaspan, B. L. (Brian L.), Jenkins, R. G. (R. Gisli), Wain, L. V. (Louise V.), Ripatti, S. (Samuli), Pirinen, M. (Matti), I. I. (International IPF Genetics Consortium), G. B. (Global Biobank Meta-Analysis Initiative (GBMI)), Laitinen, T. (Tarja), Kaarteenaho, R. (Riitta), Myllärniemi, M. (Marjukka), Daly, M. J. (Mark J.), Koskela, J. T. (Jukka T.), Partanen, J. J. (Juulia J.), Häppölä, P. (Paavo), Zhou, W. (Wei), Lehisto, A. A. (Arto A.), Ainola, M. (Mari), Sutinen, E. (Eva), Allen, R. J. (Richard J.), Stockwell, A. D. (Amy D.), Leavy, O. C. (Olivia C.), Oldham, J. M. (Justin M.), Guillen-Guio, B. (Beatriz), Cox, N. J. (Nancy J.), Hirbo, J. B. (Jibril B.), Schwartz, D. A. (David A.), Fingerlin, T. E. (Tasha E.), Flores, C. (Carlos), Noth, I. (Imre), Yaspan, B. L. (Brian L.), Jenkins, R. G. (R. Gisli), Wain, L. V. (Louise V.), Ripatti, S. (Samuli), Pirinen, M. (Matti), I. I. (International IPF Genetics Consortium), G. B. (Global Biobank Meta-Analysis Initiative (GBMI)), Laitinen, T. (Tarja), Kaarteenaho, R. (Riitta), Myllärniemi, M. (Marjukka), Daly, M. J. (Mark J.), and Koskela, J. T. (Jukka T.)
- Abstract
Summary The research of rare and devastating orphan diseases, such as idiopathic pulmonary fibrosis (IPF) has been limited by the rarity of the disease itself. The prognosis is poor—the prevalence of IPF is only approximately four times the incidence, limiting the recruitment of patients to trials and studies of the underlying biology. Global biobanking efforts can dramatically alter the future of IPF research. We describe a large-scale meta-analysis of IPF, with 8,492 patients and 1,355,819 population controls from 13 biobanks around the globe. Finally, we combine this meta-analysis with the largest available meta-analysis of IPF, reaching 11,160 patients and 1,364,410 population controls. We identify seven novel genome-wide significant loci, only one of which would have been identified if the analysis had been limited to European ancestry individuals. We observe notable pleiotropy across IPF susceptibility and severe COVID-19 infection and note an unexplained sex-heterogeneity effect at the strongest IPF locus MUC5B.
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- 2022
3. DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma
- Author
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Loomis, S. J., Yaspan, B. L., Richards, J. E., Liu, Y., Pasquale, L. R., Budenz, D. L., Kang, J. H., Realini, A., Pericak-Vance, M. A., Gaasterland, D., Zhang, K., Christen, W. G., Lichter, P., Singh, K., Schuman, J. S., Ashley-Koch, A. E., Sit, A. J., Lee, R. K., Vollrath, D., Wollstein, G., Garrett, M. E., Brilliant, M., Fingert, J. H., Haines, J. L., Weinreb, R., Zack, D. J., Gaasterland, T., Allingham, R. R., Wiggs, J. L., Bailey, J. C., Moroi, S. E., and Scott, W. K.
- Subjects
endocrine system diseases ,genetic structures ,mental disorders ,sense organs ,eye diseases - Abstract
We examined the role of DNA copy number variants (CNVs) of known glaucoma genes in relation to primary open angle glaucoma (POAG).
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- 2014
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4. DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma
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Liu, Y., primary, Garrett, M. E., additional, Yaspan, B. L., additional, Bailey, J. C., additional, Loomis, S. J., additional, Brilliant, M., additional, Budenz, D. L., additional, Christen, W. G., additional, Fingert, J. H., additional, Gaasterland, D., additional, Gaasterland, T., additional, Kang, J. H., additional, Lee, R. K., additional, Lichter, P., additional, Moroi, S. E., additional, Realini, A., additional, Richards, J. E., additional, Schuman, J. S., additional, Scott, W. K., additional, Singh, K., additional, Sit, A. J., additional, Vollrath, D., additional, Weinreb, R., additional, Wollstein, G., additional, Zack, D. J., additional, Zhang, K., additional, Pericak-Vance, M. A., additional, Haines, J. L., additional, Pasquale, L. R., additional, Wiggs, J. L., additional, Allingham, R. R., additional, Ashley-Koch, A. E., additional, and Hauser, M. A., additional
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- 2014
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5. Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma
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Kang, J H, primary, Loomis, S J, additional, Yaspan, B L, additional, Bailey, J C, additional, Weinreb, R N, additional, Lee, R K, additional, Lichter, P R, additional, Budenz, D L, additional, Liu, Y, additional, Realini, T, additional, Gaasterland, D, additional, Gaasterland, T, additional, Friedman, D S, additional, McCarty, C A, additional, Moroi, S E, additional, Olson, L, additional, Schuman, J S, additional, Singh, K, additional, Vollrath, D, additional, Wollstein, G, additional, Zack, D J, additional, Brilliant, M, additional, Sit, A J, additional, Christen, W G, additional, Fingert, J, additional, Forman, J P, additional, Buys, E S, additional, Kraft, P, additional, Zhang, K, additional, Allingham, R R, additional, Pericak-Vance, M A, additional, Richards, J E, additional, Hauser, M A, additional, Haines, J L, additional, Wiggs, J L, additional, and Pasquale, L R, additional
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- 2014
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6. A genome-wide scan for common alleles affecting risk for autism
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Anney, R., primary, Klei, L., additional, Pinto, D., additional, Regan, R., additional, Conroy, J., additional, Magalhaes, T. R., additional, Correia, C., additional, Abrahams, B. S., additional, Sykes, N., additional, Pagnamenta, A. T., additional, Almeida, J., additional, Bacchelli, E., additional, Bailey, A. J., additional, Baird, G., additional, Battaglia, A., additional, Berney, T., additional, Bolshakova, N., additional, Bolte, S., additional, Bolton, P. F., additional, Bourgeron, T., additional, Brennan, S., additional, Brian, J., additional, Carson, A. R., additional, Casallo, G., additional, Casey, J., additional, Chu, S. H., additional, Cochrane, L., additional, Corsello, C., additional, Crawford, E. L., additional, Crossett, A., additional, Dawson, G., additional, de Jonge, M., additional, Delorme, R., additional, Drmic, I., additional, Duketis, E., additional, Duque, F., additional, Estes, A., additional, Farrar, P., additional, Fernandez, B. A., additional, Folstein, S. E., additional, Fombonne, E., additional, Freitag, C. M., additional, Gilbert, J., additional, Gillberg, C., additional, Glessner, J. T., additional, Goldberg, J., additional, Green, J., additional, Guter, S. J., additional, Hakonarson, H., additional, Heron, E. A., additional, Hill, M., additional, Holt, R., additional, Howe, J. L., additional, Hughes, G., additional, Hus, V., additional, Igliozzi, R., additional, Kim, C., additional, Klauck, S. M., additional, Kolevzon, A., additional, Korvatska, O., additional, Kustanovich, V., additional, Lajonchere, C. M., additional, Lamb, J. A., additional, Laskawiec, M., additional, Leboyer, M., additional, Le Couteur, A., additional, Leventhal, B. L., additional, Lionel, A. C., additional, Liu, X.-Q., additional, Lord, C., additional, Lotspeich, L., additional, Lund, S. C., additional, Maestrini, E., additional, Mahoney, W., additional, Mantoulan, C., additional, Marshall, C. R., additional, McConachie, H., additional, McDougle, C. J., additional, McGrath, J., additional, McMahon, W. M., additional, Melhem, N. M., additional, Merikangas, A., additional, Migita, O., additional, Minshew, N. J., additional, Mirza, G. K., additional, Munson, J., additional, Nelson, S. F., additional, Noakes, C., additional, Noor, A., additional, Nygren, G., additional, Oliveira, G., additional, Papanikolaou, K., additional, Parr, J. R., additional, Parrini, B., additional, Paton, T., additional, Pickles, A., additional, Piven, J., additional, Posey, D. J., additional, Poustka, A., additional, Poustka, F., additional, Prasad, A., additional, Ragoussis, J., additional, Renshaw, K., additional, Rickaby, J., additional, Roberts, W., additional, Roeder, K., additional, Roge, B., additional, Rutter, M. L., additional, Bierut, L. J., additional, Rice, J. P., additional, Salt, J., additional, Sansom, K., additional, Sato, D., additional, Segurado, R., additional, Senman, L., additional, Shah, N., additional, Sheffield, V. C., additional, Soorya, L., additional, Sousa, I., additional, Stoppioni, V., additional, Strawbridge, C., additional, Tancredi, R., additional, Tansey, K., additional, Thiruvahindrapduram, B., additional, Thompson, A. P., additional, Thomson, S., additional, Tryfon, A., additional, Tsiantis, J., additional, Van Engeland, H., additional, Vincent, J. B., additional, Volkmar, F., additional, Wallace, S., additional, Wang, K., additional, Wang, Z., additional, Wassink, T. H., additional, Wing, K., additional, Wittemeyer, K., additional, Wood, S., additional, Yaspan, B. L., additional, Zurawiecki, D., additional, Zwaigenbaum, L., additional, Betancur, C., additional, Buxbaum, J. D., additional, Cantor, R. M., additional, Cook, E. H., additional, Coon, H., additional, Cuccaro, M. L., additional, Gallagher, L., additional, Geschwind, D. H., additional, Gill, M., additional, Haines, J. L., additional, Miller, J., additional, Monaco, A. P., additional, Nurnberger, J. I., additional, Paterson, A. D., additional, Pericak-Vance, M. A., additional, Schellenberg, G. D., additional, Scherer, S. W., additional, Sutcliffe, J. S., additional, Szatmari, P., additional, Vicente, A. M., additional, Vieland, V. J., additional, Wijsman, E. M., additional, Devlin, B., additional, Ennis, S., additional, and Hallmayer, J., additional
- Published
- 2010
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7. Estrogen pathway polymorphisms in relation to primary open angle glaucoma: An analysis accounting for gender from the United States
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Pasquale, L. R., Loomis, S. J., Weinreb, R. N., Kang, J. H., Yaspan, B. L., Cooke Bailey, J., Gaasterland, D., Gaasterland, T., Lee, R. K., Scott, W. K., Lichter, P. R., Budenz, D. L., Liu, Y., Realini, T., Friedman, D. S., Catherine McCarty, Moroi, S. E., Olson, L., Schuman, J. S., Singh, K., Vollrath, D., Wollstein, G., Zack, D. J., Brilliant, M., Sit, A. J., Christen, W. G., Fingert, J., Kraft, P., Zhang, K., Allingham, R. R., Pericak-Vance, M. A., Richards, J. E., Hauser, M. A., Haines, J. L., and Wiggs, J. L.
- Subjects
Male ,Aging ,genetic structures ,Neurodegenerative ,Ophthalmology & Optometry ,Polymorphism, Single Nucleotide ,Opthalmology and Optometry ,Genetics ,Humans ,Genetic Predisposition to Disease ,Polymorphism ,Eye Disease and Disorders of Vision ,Intraocular Pressure ,Sex Characteristics ,Neurosciences ,Glaucoma ,Estrogens ,Single Nucleotide ,Estrogen ,eye diseases ,United States ,Open-Angle ,Case-Control Studies ,Female ,sense organs ,Glaucoma, Open-Angle ,Metabolic Networks and Pathways ,Research Article ,Signal Transduction - Abstract
Purpose: Circulating estrogen levels are relevant in glaucoma phenotypic traits. We assessed the association between an estrogen metabolism single nucleotide polymorphism (SNP) panel in relation to primary open angle glaucoma (POAG), accounting for gender. Methods: We included 3,108 POAG cases and 3,430 controls of both genders from the Glaucoma Genes and Environment (GLAUGEN) study and the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium genotyped on the Illumina 660W-Quad platform. We assessed the relation between the SNP panels representative of estrogen metabolism and POAG using pathway-and gene-based approaches with the Pathway Analysis by Randomization Incorporating Structure (PARIS) software. PARIS executes a permutation algorithm to assess statistical significance relative to the pathways and genes of comparable genetic architecture. These analyses were performed using the metaanalyzed results from the GLAUGEN and NEIGHBOR data sets. We evaluated POAG overall as well as two subtypes of POAG defined as intraocular pressure (IOP) ≥22mmHg (high-pressure glaucoma [HPG]) or IOP 0.99). Among women, gene-based analyses revealed that the catechol-O-methyltransferase gene showed strong associations with HTG (permuted gene p≤0.001) and NPG (permuted gene p=0.01). Conclusions: The estrogen SNP pathway was associated with POAG among women. © 2013 Molecular Vision.
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