Meta-analyses of 4 CFTR variants associated with the risk of the congenital bilateral absence of the vas deferens

Journal of Clinical Bioinformatics

Shiwei Duan³  Huijuan Shi¹  Hongyan Xie³  Huiqing Zhu³  Qi Liao³  Jufen Zheng²  Xuting Xu³ 

[1] China National Population and Family Planning Key Laboratory of Contraceptive Drugs and Devices, Shanghai Institute of Planned Parenthood Research (SIPPR), Shanghai 200032, China;China National Population and Family Planning Key Laboratory of Contraceptive Drugs and Devices, SIPPR, Fudan University, Shanghai 200032, China;Zhejiang Provincial Key Laboratory of Pathophysiology, School of Medicine, Ningbo University, Ningbo, Zhejiang 315211, China

关键词: M470V;    ΔF508;    5T;    CFTR gene;    Meta-analysis;    Congenital bilateral absence of the vas deferens;   

Others  :  1133397
DOI  :  10.1186/2043-9113-4-11

 received in 2014-04-15, accepted in 2014-07-24,  发布年份 2014

【 摘 要 】

Aims

The aim of our study was to evaluate the relationship between four CFTR variations and the congenital bilateral absence of the vas deferens (CBAVD).

Methods

A systematic search was performed in the literature databases for the case–control studies of CFTR variations with the risk of CBAVD. A total of 29 studies among 1139 controls and 1562 CBAVD patients were gathered for the meta-analyses of three commonly tecsted variations (5T, ΔF508 and M470V) with CBAVD.

Results

Our meta-analyses observed significant associations between CBAVD and all the three variations, including 5T (P < 0.001, OR = 8.35, 95% CI = 6.68-10.43), M470V (P = 0.027, OR = 0.74, 95% CI = 0.60-0.91) and ΔF508 (P < 0.001, OR = 22.20, 95% CI = 7.49-65.79).

Conclusion

In the current study, we demonstrated a significant association between CFTR variations and CBAVD. Our results showed that the 5T variation was a risk factor of CBAVD in French, Spanish, Japanese, Chinese, Iranian, Indian, Mexican and Egyptian populations. CFTR ΔF508 was another important risk factor in Caucasians, including Slovenians, Canadians, Iranians, and Egyptians. In addition, M470V was a protective factor among French, Chinese, Italian and Iranian populations.

【 授权许可】

   
2014 Xu et al.; licensee BioMed Central Ltd.

【 图 表 】

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