Jilu Lang1, Weichen Tian, Xian Sun. 1. Cardiac Surgery Department, Second Affiliated Hospital of Harbin Medical University, 246 Xuefu, Nangang District, Harbin, Heilongjiang, China. drlangjilu@yahoo.cn
Abstract
AIM: It has previously been reported that ISLET1 (ISL1) plays a fundamental role in cardiac morphogenesis. This study investigated the possible association between variants in the ISL LIM homeobox 1 (ISL1) gene and congenital ventricular septal defect (VSD) in a Chinese cohort. METHODS: A total of 512 congenital VSD patients and 612 unrelated age- and sex-matched healthy control subjects were enrolled in this study. Genotypes for three variants in ISL1 (rs3762977, IVS1+17C>T, and rs1017) were determined. RESULTS: We found that the rs3762977 and IVS+17C>T variants were closely associated with the risk of developing VSD. Carriers of the GG genotype of rs3762977 and the TT genotype of IVS+17C>T were less likely to have VSD, whereas variants in rs1701 did not affect the VSD risk. The haplotypes rs3762977G-rs1017A-IVS+17T and rs3762977G-rs1017T-IVS+17T represented a protective effect against VSD. None of these ISL1 variants showed any association with VSD type according to defect location and VSD severity according to defect size. CONCLUSION: These findings suggest that ISL1 genetic polymorphisms are associated with occurrence of VSD, thus they may be useful as molecular markers for prediction of VSD.
AIM: It has previously been reported that ISLET1 (ISL1) plays a fundamental role in cardiac morphogenesis. This study investigated the possible association between variants in the ISL LIM homeobox 1 (ISL1) gene and congenital ventricular septal defect (VSD) in a Chinese cohort. METHODS: A total of 512 congenital VSDpatients and 612 unrelated age- and sex-matched healthy control subjects were enrolled in this study. Genotypes for three variants in ISL1 (rs3762977, IVS1+17C>T, and rs1017) were determined. RESULTS: We found that the rs3762977 and IVS+17C>T variants were closely associated with the risk of developing VSD. Carriers of the GG genotype of rs3762977 and the TT genotype of IVS+17C>T were less likely to have VSD, whereas variants in rs1701 did not affect the VSD risk. The haplotypes rs3762977G-rs1017A-IVS+17T and rs3762977G-rs1017T-IVS+17T represented a protective effect against VSD. None of these ISL1 variants showed any association with VSD type according to defect location and VSD severity according to defect size. CONCLUSION: These findings suggest that ISL1 genetic polymorphisms are associated with occurrence of VSD, thus they may be useful as molecular markers for prediction of VSD.
Authors: Kristen N Stevens; Hakon Hakonarson; Cecilia E Kim; Pieter A Doevendans; Bobby P C Koeleman; Seema Mital; Jennifer Raue; Joseph T Glessner; John G Coles; Victor Moreno; Anne Granger; Stephen B Gruber; Peter J Gruber Journal: PLoS One Date: 2010-05-26 Impact factor: 3.240
Authors: Kazuko Koshiba-Takeuchi; Alessandro D Mori; Bogac L Kaynak; Judith Cebra-Thomas; Tatyana Sukonnik; Romain O Georges; Stephany Latham; Laurel Beck; Laural Beck; R Mark Henkelman; Brian L Black; Eric N Olson; Juli Wade; Jun K Takeuchi; Mona Nemer; Scott F Gilbert; Benoit G Bruneau Journal: Nature Date: 2009-09-03 Impact factor: 49.962
Authors: Zhaohong Ding; Wenke Yang; Kang Yi; Yunhan Ding; Dan Zhou; Xiaodong Xie; Tao You Journal: Medicine (Baltimore) Date: 2020-01 Impact factor: 1.817