实用医学杂志2012，Vol.28Issue(5)：745-747,3.DOI:10.3969/j.issn.1006-5725.2012.05.022
内皮一氧化氮合酶基因多态性与先天性心脏病易感性的研究
Relationship between eNOS rs1799983 G》T polymorphism and risk of congenital heart disease
摘要
Abstract
Objective To elucidate the association between eNOS rs1799983 G>T polymorphism and the susceptibility to congenital heart disease in a Chinese Han population. Methods Genotypes were determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) method in 120 tetralogy of fallot cases (TOF group), 124 transposition of the great arteries cases (TGA group) and 136 controls. Results The eNOS rs1799983 G>T genotype frequencies were 77.1%(GG), 21.2%(GT), 1.7%(TT); 80.5% (GG), 19.5%(GT), 0%(TT) in the TOF group and TGA group and 82.2%(GG), 17.8%(GT), 0%(TT) in the controls respectively. Logistic regression analysis revealed that the correlation of eNOS rs1799983 G>T variant genotype and eNOS rs1799983 GT was 1.27 (95% CI = 0.68 ~ 2.37) compared with its wild-type homozygote for TOF and 1.12 (95% CI = 0.60 ~ 2.10) for TGA. Conclusions eNOS rs1799983 polymorphism may not be a risk factor of congenital heart disease susceptibility. Further functional studies are needed to verify our findings.关键词
心脏缺损,先天性/eNOS/基质辅助激光解吸电离飞行时间质谱/单核苷酸多态性Key words
Heart defects,congenital/eNOS/Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry/Single nucleotide polymorphism引用本文复制引用
黄伟聪,顾海勇,旷文安,张辉,刘瑞平,孙成超..内皮一氧化氮合酶基因多态性与先天性心脏病易感性的研究[J].实用医学杂志,2012,28(5):745-747,3.基金项目
温州市科技局对外合作项目(编号:h20090019) （编号:h20090019）
