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Your search keyword '"McCauley, Jacob L"' showing total 5 results
Start Over Author "McCauley, Jacob L" Journal human molecular genetics
5 results on '"McCauley, Jacob L"'

1. Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA–CLEC16A–SOCS1 gene complex

Author

Zuvich, Rebecca L., Bush, William S., McCauley, Jacob L., Beecham, Ashley H., De Jager, Philip L., Ivinson, Adrian J., Compston, Alastair, Hafler, David A., Hauser, Stephen L., Sawcer, Stephen J., Pericak-Vance, Margaret A., Barcellos, Lisa F., Mortlock, Douglas P., and Haines, Jonathan L.

Published
2011
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2. Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12 566 individuals

Author

Briggs, Farren B.S., Bartlett, Selena E., Goldstein, Benjamin A., Wang, Joanne, McCauley, Jacob L., Zuvich, Rebecca L., De Jager, Philip L., Rioux, John D., Ivinson, Adrian J., Compston, Alastair, Hafler, David A., Hauser, Stephen L., Oksenberg, Jorge R., Sawcer, Stephen J., Pericak-Vance, Margaret A., Haines, Jonathan L., and Barcellos, Lisa F.

Published
2010
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4. Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci

Author

McCauley, Jacob L., Zuvich, Rebecca L., Beecham, Ashley H., De Jager, Philip L., Konidari, Ioanna, Whitehead, Patrice L., Aubin, Cristin, Ban, Maria, Pobywajlo, Susan, Briskin, Rebeccah, Romano, Susan, Aggarwal, Neelum T., Piccio, Laura, McArdle, Wendy L., Strachan, David P., Evans, Denis, Cross, Anne H., Cree, Bruce, Rioux, John D., Barcellos, Lisa F., Ivinson, Adrian J., Compston, Alastair, Hafler, David A., Hauser, Stephen L., Oksenberg, Jorge R., Sawcer, Stephen J., Pericak-Vance, Margaret A., and Haines, Jonathan L.

Published
2010

5. Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12,566 individuals.

Author

Briggs FB, Bartlett SE, Goldstein BA, Wang J, McCauley JL, Zuvich RL, De Jager PL, Rioux JD, Ivinson AJ, Compston A, Hafler DA, Hauser SL, Oksenberg JR, Sawcer SJ, Pericak-Vance MA, Haines JL, and Barcellos LF

Subjects
Case-Control Studies, Humans, Mass Spectrometry, Polymorphism, Single Nucleotide, Multiple Sclerosis genetics, Receptors, Corticotropin-Releasing Hormone genetics
Abstract

The primary genetic risk factor in multiple sclerosis (MS) is the HLA-DRB1*1501 allele; however, much of the remaining genetic contribution to MS has yet to be elucidated. Several lines of evidence support a role for neuroendocrine system involvement in autoimmunity which may, in part, be genetically determined. Here, we comprehensively investigated variation within eight candidate hypothalamic-pituitary-adrenal (HPA) axis genes and susceptibility to MS. A total of 326 SNPs were investigated in a discovery dataset of 1343 MS cases and 1379 healthy controls of European ancestry using a multi-analytical strategy. Random Forests, a supervised machine-learning algorithm, identified eight intronic SNPs within the corticotrophin-releasing hormone receptor 1 or CRHR1 locus on 17q21.31 as important predictors of MS. On the basis of univariate analyses, six CRHR1 variants were associated with decreased risk for disease following a conservative correction for multiple tests. Independent replication was observed for CRHR1 in a large meta-analysis comprising 2624 MS cases and 7220 healthy controls of European ancestry. Results from a combined meta-analysis of all 3967 MS cases and 8599 controls provide strong evidence for the involvement of CRHR1 in MS. The strongest association was observed for rs242936 (OR = 0.82, 95% CI = 0.74-0.90, P = 9.7 × 10(-5)). Replicated CRHR1 variants appear to exist on a single associated haplotype. Further investigation of mechanisms involved in HPA axis regulation and response to stress in MS pathogenesis is warranted.

Published
2010
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