Single nucleotide polymorphisms of CFAP43 and TEX14 associated with idiopathic male infertility in a Vietnamese population

Medicine (United States) - Tập 103 Số 39 - Trang e39839 - 2024
Trần Hữu Định1, Phuong Anh Nguyen1, Dinh Huong Thao1, La Duc Duy1, Nguyen Duy Bac2, Pham Van Quyet1,3, Son Trinh The3, Lương Thị Lan Anh4, Nguyen Xuan Canh5, Nong Van Hai1, Nguyễn Thùy Dương1
1Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam
2Department of Human Anatomy, Vietnam Military Medical University, Hanoi, Vietnam
3Military Institute of Clinical Embryology and Histology, Vietnam Military Medical University, Hanoi, Vietnam
4Department of Medical Biology and Genetics, Hanoi Medical University, Ministry of Health, Hanoi, Vietnam
5Department of Microbial Biotechnology, Faculty of Biotechnology, Vietnam National University of Agriculture, Hanoi, Vietnam.

Tóm tắt

Male infertility is a multifactorial disease due to spermatogenesis impairment, with etiology remaining unknown for roughly one-third of infertile cases. Several studies have demonstrated that genetic variants are male infertility risk factors. CFAP43 and TEX14 are involved in the spermatogenesis process. The present study aimed to assess the association between single-nucleotide polymorphisms (SNPs) in CFAP43 (rs17116635 and rs10883979) and TEX14 (rs79813370 and rs34818467) and idiopathic male infertility in a Vietnamese population. A cohort of 206 infertile men and 195 controls were recruited for the study. CFAP43 and TEX14 SNPs were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Genotypes of randomly selected samples, accounting for 10% of the total, were confirmed using Sanger sequencing. The obtained data were analyzed using statistical methods. The results showed that 4 SNPs (rs17116635, rs10883979, rs79813370, and rs34818467) were in accordance with Hardy-Weinberg Equilibrium (HWE; P > .05). CFAP43 rs10883979 and TEX14 rs79813370 were associated with male infertility. For CFAP43 rs10883979, in the recessive model, the combination AA + AG was associated with male infertility when compared to the GG genotype (OR = 0.26; 95% CI: 0.06–0.85; P = .02). For TEX14 rs79813370, a protective effect against infertility risk was identified in the presence of the T allele of rs79813370 when compared to the G allele (OR = 0.48; 95% CI: 0.32–0.72; P < .001). Our results suggest that CFAP43 rs10883979 and TEX14 rs79813370 are likely associated with male infertility in the Vietnamese population, in which the G allele of rs79813370 may be a risk factor for male infertility.

Từ khóa


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Medicine (United States)

Tập 103 Số 39

e39839

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