ASSOCIATION OF SOX5 rs10842262 WITH MALE INFERTILITY  IN 325 VIETNAMESE INDIVIDUALS

Dương Thị Thu Hà; Đinh Hương Thảo; Nguyễn Thuỳ Dương

doi:10.34238/tnu-jst.4930

ASSOCIATION OF SOX5 rs10842262 WITH MALE INFERTILITY IN 325 VIETNAMESE INDIVIDUALS

About this article

Received: 27/08/21 Revised: 08/04/22 Published: 13/04/22

Authors

1. Duong Thi Thu Ha , Institute of Genome Research - Vietnam Academy of Science and Technology
2. Dinh Huong Thao, Institute of Genome Research - Vietnam Academy of Science and Technology
3. Nguyen Thuy Duong, Institute of Genome Research - Vietnam Academy of Science and Technology; Graduate University Science and Technology - Vietnam Academy of Science and Technology

Abstract

Male infertility is becoming increasingly prevalent. Numerous studies demonstrated the association of single nucleotide polymorphisms and increasing male infertility. To assess the relationship between SOX5 rs10842262 and the risk of male infertility in Vietnamese population, 140 male infertility patients diagnosed with non-obstructive azoospermia or oligozoospermia and 185 healthy controls were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Statistical analysis demonstrated that the allele frequencies of SOX5 rs10842262 followed Hardy-Weinberg equilibrium (HWE) (p-value > 0.05). The Chi-square test revealed no correlation between the polymorphism and male infertility in this study (p-value > 0.05). Our finding was the first study on the association between single nucleotide polymorphism in SOX5 gene and male infertility in the Vietnamese population. To confirm the results on the association of SOX5 rs10842262 and male infertility in the Vietnamese population, further studies with larger sample size should be conducted.

Keywords

PCR-RFLP; rs10842262; SOX5; Vietnamese; Male infertility

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References

[1] J. Poongothai, T. S. Gopenath, S. Manonayaki, and S. Poongothai, “Genetics of human male infertility,” Singapore Medical Journal, vol. 50, no. 4, pp. 336-47, 2009.

[2] S. A. Yatsenko and A. Rajkovic, “Genetics of human female infertility,” Biology of Reproduction, vol. 101, no. 3, pp. 549-566, 2019.

[3] M. Grynberg et al., “Fertility preservation in Turner syndrome,” Fertility and Sterility, vol. 105, no. 1, pp. 13-19, 2016.

[4] L. Huang et al., “Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrest,” Hum. Reprod., vol. 33, no. 6, pp. 1183-1190, 2018.

[5] F. T. L. Neto, P. V. Bach, B. B. Najari, P. S. Li, and M. Goldstein, “Genetics of Male Infertility,” Curr. Urol. Rep., vol. 17, no. 10, pp. 1-12, 2016.

[6] S. Colaco and D. Modi, “Consequences of Y chromosome microdeletions beyond male infertility,” Journal of Assisted Reproduction and Genetics, vol. 36, no. 7, pp. 1329-1337, 2019.

[7] S. Colaco and D. Modi, “Genetics of the human Y chromosome and its association with male infertility,” Reproductive Biology and Endocrinology, vol. 16, no. 1, pp. 1-24, 2018.

[8] F. Dehghanpour, F. Fesahat, F. Yazdinejad, L. Motamedzadeh, and A. R. Talebi, “Is there any relationship between human sperm parameters and protamine deficiency in different groups of infertile men?,” Rev. Int. Androl., vol. 18, no. 4, pp. 137-143, 2020.

[9] U. A. Mau-Holzmann, “Somatic chromosomal abnormalities in infertile men and women,” Cytogenetic and Genome Research, vol. 111, no. 3-4, pp. 317-336, 2005.

[10] W. Liu et al., “Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice,” Am. J. Hum. Genet., vol. 104, no. 4, pp. 738-748, 2019.

[11] K. I. Aston, “Genetic susceptibility to male infertility: News from genome-wide association studies,” Andrology, vol. 2, no. 3, pp. 315-321, 2014.

[12] V. Singh et al., “SNPs in ERCC1, ERCC2, and XRCC1 genes of the DNA repair pathway and risk of male infertility in the Asian populations: association study, meta-analysis, and trial sequential analysis,” J. Assist. Reprod. Genet., vol. 36, no. 1, pp. 79-90, 2019.

[13] J. -F. Nsota Mbango, C. Coutton, C. Arnoult, P. F. Ray, and A. Touré, “Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum,” Basic Clin. Androl., vol. 29, no. 1, p. 2, Dec. 2019.

[14] X. Gu et al., “PEX10, SIRPA-SIRPG, and SOX5 gene polymorphisms are strongly associated with nonobstructive azoospermia susceptibility,” J. Assist. Reprod. Genet., vol. 36, no.4, pp. 759-768, 2019.

[15] S. Zou et al., “Association study between polymorphisms of PRMT6, PEX10, SOX5, and nonobstructive azoospermia in the Han Chinese population,” Biol. Reprod., vol. 90, no. 5, pp. 1-4, 2014.

[16] R. W. Y. Lee, J. Bodurtha, J. Cohen, A. Fatemi, and D. Batista, “Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features,” Pediatr. Neurol., vol. 48, no. 4, pp. 317-320, 2013.

[17] N. Takamatsu et al., “A gene that is related to SRY and is expressed in the testes encodes a leucine zipper-containing protein,” Mol. Cell. Biol., vol. 15, no. 7, pp. 3759-3766, 1995.

[18] T. Jiang, C. C. Hou, Z. Y. She, and W. X. Yang, “The SOX gene family: Function and regulation in testis determination and male fertility maintenance,” Mol. Biol. Rep., vol. 40, no. 3, pp. 2187-2194, 2013.

[19] V. Nemanja et al., “Association study between single-nucleotide variants rs12097821, rs2477686, and rs10842262 and idiopathic male infertility risk in Serbian population with meta-analysis,” J. Assist. Reprod. Genet., vol. 37, no. 11, pp. 2839-2852, 2020.

[20] Y. Sato et al., “Replication study and meta-analysis of human nonobstructive azoospermia in Japanese populations,” Biol. Reprod., vol. 88, no. 4, pp. 1-4, 2013.

[21] R. Core Team, “R: A language and environment for statistical computing.,” R Foundation for Statistical Computing, vol. 1, pp. 79318, 2019.

[22] W. Tu et al., “Genome-wide loci linked to non-obstructive azoospermia susceptibility may be independent of reduced sperm production in males with normozoospermia,” Biol. Reprod., vol. 92, no. 2, pp. 1-6, 2015.

[23] M. K. Skinner, Encyclopedia of reproduction. 2018.

[24] Z. Hu et al., “A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia,” Nat. Genet., vol. 44, no. 2, pp.183-186, 2012.

[25] S. Y. Liu et al., “Strong association of SLC1A1 and DPF3 gene variants with idiopathic male infertility in Han Chinese,” Asian J. Androl., vol. 18, pp. 486, 2016.

DOI: https://doi.org/10.34238/tnu-jst.4930

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