Abstract：OBJECTIVE: Recent studies have found that the variation of G894T on the region of T786C and 7th exon promoted by endothelial nitric oxide synthase (eNOS) gene is associated with cardiovascular disease. This research explored possible correlations between eNOS gene polymorphisms and orthostatic intolerance (OI) in children through linkage disequilibrium analysis between eNOS genes T786C and G894T and OI. METHODS: PCR, Macrorestriction Map and other molecular biotechnology were used to determine the genotypes of eNOS/T786C and G894T in 60 OI probands and their parents. Correlation analysis and transmission disequilibrium test (TDT) between T786C, G894T and OI were performed. RESULTS: There was linkage disequilibrium of eNOS/T786C and G894T gene polymorphisms in the occurrence of childhood OI (P<0.05). CONCLUSIONS: eNOS genes T786C and G894T may be associated with the pathogenesis of OI.
XIONG Zhen-Yu,HAN Zi-Yan,HAN Zhen-Hui et al. A family-based transmission disequilibrium test of polymorphisms of endothelial nitric oxide synthase gene in children with orthostatic intolerance[J]. CJCP, 2012, 14(12): 960-963.
［12］Nussinovitch N, Nussinovitch M, Peleg E, Rosenthal T. 24-hour ambulatory blood pressure monitoring in children with familial dysautonomia［J］. Pediatr Nephrol, 2005, 20(4): 507-511.
［14］Spielman RS, McGinnis RE, Evens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM)［J］.Am J Hum Genet, 1993, 52(3): 506-516.
［16］Morsy MF, Kobayashi J, Nagasaka H, Kobayashi T, Senzaki H, Sasaki N, et al. Endothelial constitutive nitric oxide synthase gene polymorphism and Kawasaki disease: a preliminary study［J］. Int Pediatr, 2003, 18(1): 36-40.
［17］Garland EM, Winker R, Williams SM, Jiang L, Stanton K, Byrne DW, et al. Endothelial NO synthase polymorphisms and postural tachycardia syndrome［J］. Hypertension, 2005, 46(5): 1103-1110.
［18］Hyndman ME, Parsons HG, Verma S, Bridge PJ, Edworthy S, Jones C, et al. The T-786-C mutation in endothelial nitric oxide synthase is associated with hypertension［J］. Hypertension, 2002, 39: 919-922.
［19］Yoon S, Shin C, Park HY, Moon J, Kim E, Kim HT, et al. Endothelial nitric oxide synthase geneis associated with vessel stenosisin Korean population［J］. Clin Chim Acta, 2005, 353(1-2): 177-185.
［23］Luo F, Wang Y, Wang X, Sun K, Zhou X, Hui R. A functional variant of NEDD4L is associated with hypotension, antihypertensive response, and orthostatice hypotension［J］. Hypotension, 2009, 54(4): 796-801.
