中国东北人群中转化生长因子-α基因rs3771494单核苷酸多态性与非综合征唇腭裂的关系

Association of Single Nucleotide Polymorphism of rs3771494 in TGF-α Gene and Nonsyndromic Cleft Lip with or without Cleft Palate in Northeast China People

目的:探讨转化生长因子-α(TGF-α)基因rs3771494多态性与中国东北部人群非综合征唇腭裂的相关性。方法:收集2008-2012年东北地区非综合征唇腭裂患者236例作为病例组,正常对照者400例作为对照组,利用基因芯片检测两组基因型并进行分析比较。结果:病例组基因型TC、CC及TC+CC的频率均高于对照组,比较差异均有统计学意义(P<0.05)。结论:中国东北人群中TGF-α基因rs3771494位点基因型TC和CC与非综合征唇腭裂的发病密切相关。

Objective： To investigate the relationship between single nucleotide polymorphism （SNP）of rs3771494 in transforming growth factor-α （ TGF- α ） gene and nonsyndromic cleft lip with or without cleft palate （ NSCL/ P ） in northeast Chinese populations.Method： 236 cases of NSCUP and 400 health volunteers from northeast China were collected, the former were as the disease group and the latter were as the control group.The genotypes were detected by gene microarray, the genotypes were analyzed and compared between the two groups,Result： The frequencies of genotypes TC, CC .and TC＋CC in the disease group were higher than those in the control group, the differences were statistically significant （ P〈0.05 ） .Conclusion： The genotypes TC and CC at rs3771494 in TGF- α gene are related to the morbidity of NSCL/P in northeast Chinese populations.