Associations between two genetic variants in NKX2-5 and risk of congenital heart disease in Chinese population: a meta-analysis.
BACKGROUND
NKX2-5 is a transcriptional factor, which plays an important role in heart formation and development. Two genetic variants in the coding region of NKX2-5, 63A>G (rs2277923) and 606G>C (rs3729753), have been investigated in the risk of congenital heart disease (CHD), although with inconsistent results. Thus, a meta-analysis was performed to clarify the associations between the two variants and CHD risk in the Chinese population.


RESULTS
Relevant studies were identified by searching PubMed, ISI Web of Science and CNKI databases and by reviewing the reference lists of retrieved articles. Then, the data from eligible studies were combined in an allelic model. A total of 7 and 4 studies were ultimately included for 63A>G and 606G>C, respectively. The results of overall meta-analyses showed that significant association was detected for 63A>G (OR = 1.26, 95% CI = 1.02-1.56, P(heterogeneity )= 0.009, I (2) = 65.1%), but not for 606G>C (OR = 1.22, 95% CI = 0.75-1.96, P(heterogeneity )=  0.412, I (2) = 0.0%). Regarding 63A>G variant, positive results were also obtained in the subgroups of atrial septal defect and large-sample-size study. Besides, the sensitivity analysis indicated that significant association was still detected after deletion of the individual studies with positive result and striking heterogeneity.


CONCLUSIONS
Our results revealed that the 63A>G variant in NKX2-5, but not the 606G>C, may contribute to CHD risk for Chinese.
Department of Epidemiology and Biostatistics and State Key Laboratory of Environment Health (Incubation), Ministry of Environmental Protection Key Laboratory of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Zhenling
Z
Wang
Li
L
Zou
Rong
R
Zhong
Beibei
B
Zhu
Wei
W
Chen
Na
N
Shen
Juntao
J
Ke
Jiao
J
Lou
Ranran
R
Song
Xiao-Ping
XP
Miao
D044466:Asian People / Q000235:genetics*; D002681:China / Q000453:epidemiology; D020022:Genetic Predisposition to Disease; D006330:Heart Defects, Congenital / Q000453:epidemiology / Q000209:etiology*; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D014157:Transcription Factors / Q000235:genetics*
D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; C095552:NKX2-5 protein, human; D014157:Transcription Factors