CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis

Yu, Jianmin; Chen, Zhanghui; Ni, Ya; Li, Zhongxiang

doi:10.1093/humrep/der377

Cited by 191 publications

(131 citation statements)

References 73 publications

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“…7 On the other hand, a large number of reports have described the CFTR mutation in infertile patients with CBAVD, but their results were not completely consistent. 22 The main objectives of this study were to determine the possible involvement of CFTR dysfunction in CBAVD males from China, a country with a …”

Section: Discussionmentioning

confidence: 99%

The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens

Ni¹,

Jiang²,

Fei³

et al. 2012

Asian J Androl

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Congenital bilateral absence of the vas deferens (CBAVD) is a frequent cause of obstructive azoospermia, and mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene have also been frequently identified in patients with CBAVD. However, the distribution of the CFTR polymorphisms M470V, poly-T, TG-repeats and F508del mutation in the Chinese CBAVD population with presumed low cystic fibrosis (CF) frequency remains to be evaluated. Samples obtained from 109 Chinese infertile males with CBAVD and 104 normal controls were analyzed for the presence of CFTR (TG)m(T)n, M470V and F508del by PCR amplification followed by direct sequencing. Our study showed that the F508del mutation was not found in our patients. The 5T mutation was present with high frequency in Chinese CBAVD patients and IVS8-5T linked to either 12 or 13 TG repeats was highly prevalent among CBAVD patients (97.22% of 72 cases and 96.91% of 97 alleles with IVS8-5T). Moreover, a statistically significant relationship between TG12-5T-V470 haplotype and CBAVD was detected. This study indicated that the CFTR polymorphisms poly-T, TG-repeats and M470V might affect the process of CBAVD in the Chinese population.

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Section: Discussionmentioning

confidence: 99%

The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens

Ni¹,

Jiang²,

Fei³

et al. 2012

Asian J Androl

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show abstract

“…CF affects the function of several organs, in particular the trachea, lung, pancreas and several tissues of the reproductive system (Chan et al, 2009;Guggino and Stanton, 2006;O'Sullivan and Freedman, 2009;Quinton, 1999;Rowe et al, 2005). Almost all male CF patients are diagnosed with congenital bilateral absence of the vas deferens (CBAVD) and concurrent absence or atrophy of a large portion of the epididymis (Anguiano et al, 1992;Cuppens and Cassiman, 2004;Oates and Amos, 1994;Patrizio and Zielenski, 1996;Yu et al, 2012). These organs are located downstream of the testis; they are required for sperm maturation, storage and transport, and are thus essential for the establishment of male fertility (Chen et al, 2012b;Cornwall, 2009;Robaire et al, 2006;Shum et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

CFTR interacts with ZO-1 to regulate tight junction assembly and epithelial differentiation via the ZONAB pathway

Ruan

Wang

Silva

et al. 2014

Journal of Cell Science

102

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Mutations in CFTR lead to dysfunction of tubular organs, which is currently attributed to impairment of its conductive properties. We now show that CFTR regulates tight junction assembly and epithelial cell differentiation through modulation of the ZO-1-ZONAB pathway. CFTR colocalizes with ZO-1 at the tight junctions of trachea and epididymis, and is expressed before ZO-1 in Wolffian ducts. CFTR interacts with ZO-1 through the CTFR PDZ-binding domain. In a three-dimensional (3D) epithelial cell culture model, CFTR regulates tight junction assembly and is required for tubulogenesis. CFTR inhibition or knockdown reduces ZO-1 expression and induces the translocation of the transcription factor ZONAB (also known as YBX3) from tight junctions to the nucleus, followed by upregulation of the transcription of CCND1 and downregulation of ErbB2 transcription. The epididymal tubules of cftr 2/2 and cftr DF508 mice have reduced ZO-1 levels, increased ZONAB nuclear expression, and decreased epithelial cell differentiation, illustrated by the reduced expression of apical AQP9 and V-ATPase. This study provides a new paradigm for the etiology of diseases associated with CFTR mutations, including cystic fibrosis.

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“…However, the reproductive tract can also be negatively impacted, resulting in infertility. Ninety-seven percent of men affected with CF have congenital bilateral absence of the vas deferens (CBAVD), and women with CF are often infertile owing to thickened cervical mucus, disruption of the uterine environment, delayed puberty, and ovulatory dysfunction (12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22).…”

mentioning

confidence: 99%

“…In addition, male CF carriers have been shown to be at higher risk for fertility issues. Twenty-five percent of men with CBAVD only have one CFTR mutation, and there is an increased CFTR mutation frequency in groups of men with non-CBAVD infertility such as those with nonobstructive azoospermia, oligospermia, and asthenospermia (16,17,32,33). Most recently, a study by Lu et al in 2014 demonstrated an increase in the frequency of miscarriages/still births and prevalence of CBAVD in male CF carriers (34).…”

mentioning

confidence: 99%

Female cystic fibrosis mutation carriers and assisted reproductive technology: does carrier status affect reproductive outcomes?

VanWort

Lee

Karvir³

et al. 2014

Fertility and Sterility

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CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis

Cited by 191 publications

References 73 publications

The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens

The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens

CFTR interacts with ZO-1 to regulate tight junction assembly and epithelial differentiation via the ZONAB pathway

Female cystic fibrosis mutation carriers and assisted reproductive technology: does carrier status affect reproductive outcomes?

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