Single Nucleotide Polymorphisms of CFAP43 and TEX14 Associated with Idiopathic Male Infertility in a Vietnamese Population

Overview

Journal Medicine (Baltimore)

Specialty General Medicine

Date 2024 Sep 27

PMID 39331878

Authors

Tran Huu Dinh

Nguyen Phuong Anh

Dinh Huong Thao

La Duc Duy

Nguyen Duy Bac

Pham Van Quyet

Trinh The Son

Luong Thi Lan Anh

Nguyen Xuan Canh

Nong Van Hai

Nguyen Thuy Duong

Affiliations

Soon will be listed here.

Abstract

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.

References

Fainberg J, Kashanian J . Recent advances in understanding and managing male infertility. F1000Res. 2019; 8. PMC: 6524745. DOI: 10.12688/f1000research.17076.1. View

Krausz C, Escamilla A, Chianese C . Genetics of male infertility: from research to clinic. Reproduction. 2015; 150(5):R159-74. DOI: 10.1530/REP-15-0261. View

Mahyari E, Guo J, Lima A, Lewinsohn D, Stendahl A, Vigh-Conrad K . Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome. Am J Hum Genet. 2021; 108(10):1924-1945. PMC: 8546046. DOI: 10.1016/j.ajhg.2021.09.001. View

Coutton C, Vargas A, Amiri-Yekta A, Kherraf Z, Ben Mustapha S, Le Tanno P . Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. Nat Commun. 2018; 9(1):686. PMC: 5814398. DOI: 10.1038/s41467-017-02792-7. View

Agarwal A, Mulgund A, Hamada A, Chyatte M . A unique view on male infertility around the globe. Reprod Biol Endocrinol. 2015; 13:37. PMC: 4424520. DOI: 10.1186/s12958-015-0032-1. View

Cioppi F, Rosta V, Krausz C . Genetics of Azoospermia. Int J Mol Sci. 2021; 22(6). PMC: 8004677. DOI: 10.3390/ijms22063264. View

Aston K, Krausz C, Laface I, Ruiz-Castane E, Carrell D . Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. Hum Reprod. 2010; 25(6):1383-97. DOI: 10.1093/humrep/deq081. View

Kelemen L, Wang X, Fredericksen Z, Pankratz V, Pharoah P, Ahmed S . Genetic variation in the chromosome 17q23 amplicon and breast cancer risk. Cancer Epidemiol Biomarkers Prev. 2009; 18(6):1864-8. PMC: 2729317. DOI: 10.1158/1055-9965.EPI-08-0486. View

Chung C, Kanetsky P, Wang Z, Hildebrandt M, Koster R, Skotheim R . Meta-analysis identifies four new loci associated with testicular germ cell tumor. Nat Genet. 2013; 45(6):680-5. PMC: 3723930. DOI: 10.1038/ng.2634. View

10.

Wang W, Tu C, Tan Y . Insight on multiple morphological abnormalities of sperm flagella in male infertility: what is new?. Asian J Androl. 2019; 22(3):236-245. PMC: 7275805. DOI: 10.4103/aja.aja_53_19. View

11.

Sha Y, Wang X, Xu X, Su Z, Cui Y, Mei L . Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF). Reprod Sci. 2017; 26(1):26-34. DOI: 10.1177/1933719117749756. View

12.

Krausz C, Riera-Escamilla A . Genetics of male infertility. Nat Rev Urol. 2018; 15(6):369-384. DOI: 10.1038/s41585-018-0003-3. View

13.

Fakhro K, Elbardisi H, Arafa M, Robay A, Rodriguez-Flores J, Al-Shakaki A . Point-of-care whole-exome sequencing of idiopathic male infertility. Genet Med. 2018; 20(11):1365-1373. DOI: 10.1038/gim.2018.10. View

14.

Pereira R, Sousa M . Morphological and Molecular Bases of Male Infertility: A Closer Look at Sperm Flagellum. Genes (Basel). 2023; 14(2). PMC: 9956255. DOI: 10.3390/genes14020383. View

15.

Zegers-Hochschild F, Adamson G, Dyer S, Racowsky C, de Mouzon J, Sokol R . The International Glossary on Infertility and Fertility Care, 2017. Fertil Steril. 2017; 108(3):393-406. DOI: 10.1016/j.fertnstert.2017.06.005. View

16.

Cannarella R, Condorelli R, Mongioi L, La Vignera S, Calogero A . Molecular Biology of Spermatogenesis: Novel Targets of Apparently Idiopathic Male Infertility. Int J Mol Sci. 2020; 21(5). PMC: 7084762. DOI: 10.3390/ijms21051728. View

17.

Graffelman J, Camarena J . Graphical tests for Hardy-Weinberg equilibrium based on the ternary plot. Hum Hered. 2007; 65(2):77-84. DOI: 10.1159/000108939. View

18.

Khan I, Shah B, Dil S, Ullah N, Zhou J, Zhao D . Novel biallelic loss-of-function mutations in cause multiple morphological abnormalities of the sperm flagellum in Pakistani families. Asian J Androl. 2021; 23(6):627-632. PMC: 8577262. DOI: 10.4103/aja.aja_26_21. View

19.

Tang S, Wang X, Li W, Yang X, Li Z, Liu W . Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. Am J Hum Genet. 2017; 100(6):854-864. PMC: 5473723. DOI: 10.1016/j.ajhg.2017.04.012. View

20.

Gershoni M, Hauser R, Yogev L, Lehavi O, Azem F, Yavetz H . A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes. Genet Med. 2017; 19(9):998-1006. DOI: 10.1038/gim.2016.225. View