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Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China
Xiaowei Qu1, Lingyi Li1, Chenchen Cui1
1Henan Provincial People's Hospital, Henan Provincial Reproductive Hospital, People's Hospital of Henan University, Zhengzhou, 450003, Henan, China.
Insights
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) variants are common in congenital absence of the vas deferens (CAVD) patients in China. Assisted reproductive technology (ART) outcomes showed no significant difference between patients with or without CFTR variants.
Area of Science:
- Genetics
- Reproductive Medicine
- Infertility
Background:
- Biallelic variants in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) are the primary cause of congenital absence of the vas deferens (CAVD).
- Limited data exists on the correlation between CFTR variants and assisted reproductive technology (ART) outcomes in Chinese CAVD patients.
Purpose of the Study:
- To investigate the prevalence of CFTR variants in Chinese CAVD patients.
- To evaluate the impact of CFTR variants on ART outcomes in CAVD patients.
Main Methods:
- Whole-exome sequencing was performed on 104 CAVD patients in Central China.
- ART outcomes (fertilization, cleavage, implantation, pregnancy, live birth rates) were compared between patients with and without CFTR variants.
Main Results:
- 69% of CAVD patients carried at least one CFTR variant.
- No significant differences in ART outcomes were observed between CAVD patients with and without CFTR variants.
- All offspring born after ART were healthy upon follow-up.
Conclusions:
- Rare CFTR variants are prevalent in CAVD patients in Central China, differing from other populations.
- CFTR variant status does not significantly affect ART success rates in CAVD patients.
- Further research with larger sample sizes and sperm quality analysis is warranted.
Abstract:
Biallelic variants in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) are the main pathogenic factor of congenital absence of the vas deferens (CAVD), including congenital bilateral absence of the vas deferens (CBAVD) and congenital unilateral absence of the vas deferens (CUAVD). However, there are few reports about the correlation between CFTR variant and outcomes of assisted reproductive technology (ART) in CAVD patients of China. In this study, 104 patients with CAVD were recruited in Central China, and provided gene detection by the whole-exome sequencing, among them 69% (72/104) carried at least one variant in CFTR and one carried adhesion G protein-coupled receptor G2 (ADGRG2) variant. A total of 81 CAVD patients were treated with ART, of which 21 and 60 carried none or at least one variant in CFTR, respectively. The fertilization rate, cleavage rate, effective embryo rate, implantation rate, clinical pregnancy rate and live birth rate per fresh embryo transfer were compared between patients with and without CFTR variants. It was found that the ART outcomes had no significant difference whether the patients carried the CFTR variant or not. In addition, all of the offspring were healthy after follow-up. In conclusion, rare CFTR variants may play a major role in patients with CAVD in Central China, which were greatly different from other descent. There was no significant difference in ART outcomes in CAVD patients with or without CFTR variants. The limitations of this study were that there was no statistical analysis of the sperm quality through TESA and conclusions were relatively limited due to the small sample size of the study.
