Pathway-based analysis of rare and common variants to test for association with blood pressure

BMC Proceedings

Volumn 8, Issue , 2014, Pages

  Alsulami, Huda ^a,b,c   Liu, Xiaofeng ^c   Beyene, Joseph ^b,c  

^a KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^b MCMASTER UNIVERSITY   (Canada)

^c MCMASTER UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CD47 ANTIGEN;

ADULT; CD47 GENE; CONFERENCE PAPER; DIASTOLIC BLOOD PRESSURE; FEMALE; GENE; GENE SET ENRICHMENT ANALYSIS; GENETIC ANALYSIS; GENOTYPE; HUMAN; MALE; MEAN ARTERIAL PRESSURE; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTOLIC BLOOD PRESSURE;

EID: 85018193467     PISSN: None     EISSN: 17536561     Source Type: Journal    
DOI: 10.1186/1753-6561-8-S1-S101     Document Type: Conference Paper

References (13)

1. Levy D, Ehret GB, Rice K, Verwoert GC, Launer LJ, Dehghan A, Glazer NL, Morrison AC, Johnson AD, Aspelund T, et al: Genome-wide association study of blood pressure and hypertension. Nat Genet. 2009, 41: 677-687. 10.1038/ng.384.
2. Lin Y, Lai X, Chen B, Xu Y, Huang B, Chen Z, Zhu S, Yao J, Jiang Q, Huang H, Wen J, Chen G: Genetic variations in CYP17A1, CACNB2 and PLEKHA7 are associated with blood pressure and/or hypertension in She ethnic minority of China. Atherosclerosis. 2011, 219: 709-714. 10.1016/j.atherosclerosis.2011.09.006.
3. Adeyemo A, Gerry N, Chen G, Herbert A, Doumatey A, Huang H, Zhou J, Lashley K, Chen Y, Christman M, Rotimi C: A genome-wide association study of hypertension and blood pressure in African Americans. PLoS Genet. 2009, 5: e1000564-10.1371/journal.pgen.1000564.
4. Wang K, Li M, Bucan M: Pathway-based approaches for analysis of genomewide association studies. Am J Hum Genet. 2007, 81: 1278-1283. 10.1086/522374.
5. Beyene J, Hu P, Hamid J, Parkhomenko E, Paterson A, Tritchler D: Pathway-based analysis of a genome-wide case-control association study of rheumatoid arthritis. BMC Proc. 2009, 3 (Suppl 7): S128-10.1186/1753-6561-3-s7-s128.
6. Subramanian A, Tamayo P, Mootha VK, Mukherjee S, Ebert BL, Gillette MA, Paulovich A, Pomeroy SL, Golub TR, Lander ES, Mesirov JP: Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci U S A. 2005, 102: 15545-15550. 10.1073/pnas.0506580102.
7. Mootha VK, Lindgren CM, Eriksson KF, Subramanian A, Sihag S, Lehar J, Puigserver P, Carlsson E, Ridderstråle M, Laurila E, et al: PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet. 2003, 34: 267-273. 10.1038/ng1180.
8. Sha Q, Wang X, Wang X, Zhang S: Detecting association of rare and common variants by testing an optimally weighted combination of variants. Genet Epidemiol. 2012, 36: 561-571. 10.1002/gepi.21649.
9. GSEA:Gene Set Enrichment Analysis. MSigDB. [ http://www.broadinstitute.org/gsea/msigdb/collection-details.jsp#C2 ]
10. Marsit CJ, Wiencke JK, Liu M, Kelsey KT: The race associated allele of Semaphorin 3B (SEMA3B) T415I and its role in lung cancer in African-Americans and Latino-Americans. Carcinogenesis. 2005, 26: 1446-1449. 10.1093/carcin/bgi098.
11. Joseph D, Ho SM, Syed V: Hormonal regulation and distinct functions of semaphorin-3B and semaphorin-3F in ovarian cancer. Mol Cancer Ther. 2010, 9: 499-509. 10.1158/1535-7163.MCT-09-0664.
12. Isenberg JS, Qin Y, Maxhimer JB, Sipes JM, Despres D, Schnermann J, Frazier WA, Roberts DD: Thrombospondin-1 and CD47 regulate blood pressure and cardiac responses to vasoactive stress. Matrix Biol. 2009, 28: 110-119. 10.1016/j.matbio.2009.01.002.
13. Bauer EM, Qin Y, Miller TW, Bandle RW, Csanyi G, Pagano PJ, Bauer PM, Schnermann J, Roberts DD, Isenberg JS: Thrombospondin-1 supports blood pressure by limiting eNOS activation and endothelial-dependent vasorelaxation. Cardiovasc Res. 2010, 88: 471-781. 10.1093/cvr/cvq218.