GENETIC POLYMORPHISMS OF CRISP2 GENE IN ASSOCIATION WITH INFERTILITY IN IRAQI PATIENTS

Authors

  • Zaid A. H
  • Abdulkareem A. Al-Kazaz

DOI:

https://doi.org/10.36103/ijas.v54i3.1743

Keywords:

Genotyping, allele frequencies, SNPs, Asthenozoospermia.

Abstract

The objective of this study was to evaluate the association and effect of CRISP2 variants on the risk of asthenozoospermia, a male infertility condition marked by absent or diminished sperm motility. There are numerous reasons why individuals develop asthenozoospermia. Therefore, it is crucial to understand the molecular mechanisms underlying this condition of infertility. Furthermore, seminal plasma, a rich source of sperm quality-related biomarkers, transports the many spermatozoa pools that make up human ejaculate down the epididymis. These spermatozoa vary in size, shape, and motility. The morphology and mobility of male ejaculated spermatozoa are affected by a number of genes, including CRISP2. In seminal samples from 120 Iraqi infertile male patients and 40 healthy males who were matched for age, gender, and ethnicity as a control group, the connection of the CRISP2 gene single nucleotide polymorphisms L56V, M176I, and C196R with infertility was investigated. According to statistical analysis of the genotype distribution of these three nsSNPs of the CRISP2 gene in patients with the asthenozoospermia subgroup and the control group, there weren't detectable differences in genotype distribution between AS, OAS, OTA, and fertile men in the Iraqi research sample. Based on allele frequencies, C, T, and G were determined to be protective alleles, with OR values of 0.74, 0.64, and 2.0, respectively.

References

Agarwal, A., Mulgund, A., Hamada, A., and M. R. Chyatte. 2015. A unique view on male infertility around the globe. Reproductive Biology and Endocrinology. 13(37): 24-36.

Akhtar, M., Jamal, T., Jamal, H., Din, J.U., Jamal, M., Arif, M., Arshad, M. and F. Jalil .2019. Identification of most damaging nsSNPs in human CCR6 gene: In silico analyses. International Journal of Immunogenetics. 4: 459-471.

Akhtar, M., Khan, S., Ali, Y., Haider, S., Din, J.U., Islam, Z.-U. and F. Jalil. 2020. association study of CCR6 rs3093024 with rheumatoid arthritis in a Pakistani cohort. Saudi Journal of Biological Sciences. 27: 3354–3358.

An Bracke. 2018. A search for molecular mechanisms underlying male idiopathic infertility. Reproductive Biomedicine Online Journal. 36 (3): 327–339.

Bjartell A, Johansson R, Bjork T, Gadaleanu V, Lundwall A, Lilja H, Kjeldsen L. and L. Udby. 2006. Immunohistochemical detection of cysteine-rich secretory protein 3 in tissue and in serum from men with cancer or benign enlargement of the prostate gland. The Prostate - Wiley Online Library. 66:591–603.

Brukman, N.G., Miyata, H., Torres, P., Lombardo, D., Caramelo, J.J., Ikawa, M., Da Ros, V.G. and P.S. Cuasnicú. 2016. Fertilization defects in sperm from Cysteine-rich secretory protein 2 (risp2) knockout mice: Implications for fertility disorders. Molecular Human Reproduction.22: 240–251.

Calogero, A. E., Condorelli, R. A., Russo, G. I., & La Vignera, S. 2017. Conservative nonhormonal options for the treatment of male infertility: Antibiotics, anti-inflammatory drugs, and antioxidants. BioMed Research International, 2017, 1–17. doi:10.1155/2017/4650182

Candenas, L., and R. Chianese, 2020. Exosome composition and seminal plasma proteome: A promising source of biomarkers of male infertility. International journal of molecular sciences, 21(19), 7022.

Coutton, C., R. A., Fissore, G. D., Palermo, K., Stouffs, and A. Touré, 2016. Male Infertility: Genetics, Mechanism, and Therapies. Bio Med Research International, 2016, 7372362. https://doi.org/10.1155/2016/7372362

Dakal, TC., Kala, D., Dhiman, G., Yadav, V., Krokhotin, A. and NV. Dokholyan. 2017. Predicting the functional consequences of non-synonymous single nucleotide polymorphisms in IL8 gene. Scientific Reports. 7 (1):6525.

Djureinovic, D., Fagerberg, L., Hallström, B., Danielsson, A., Lindskog, C., Uhlén, M., and F. Pontén. 2014. The human testis-specific proteome defined by transcriptomics and antibody-based profiling. Molecular Human Reproduction. 20(6): 476-488.

Fry, B. G., Vidal, N., Norman, J. A., Vonk, F. J., Scheib, H., Ramjan, S. F., Kuruppu, S., Fung, K., Hedges, S. B., Richardson, M. K., Hodgson, W. C., Ignjatovic, V., Summerhayes, R., & Kochva, E. (2006). Early evolution of the venom system in lizards and snakes. Nature, 439(7076), 584–588. https://doi.org/10.1038/nature04328.

Gibbs, GM., Bianco, DM., Jamsai, D., Herlihy, A., Ristevski, S., Aitken, RJ., Kretser, DM. and M K. O’Bryan. 2007. Cysteine-rich secretory protein 2 binds to mitogen-activated protein kinase kinase kinase 11 in mouse sperm. Biology of Reproduction. 77:108–114.

Gibbs, GM., Lo, JCY., Nixon, B., Jamsai, D., O’Connor, AE., Rijal, S., Sanchez-Partida, LG., Hearn, MTW., Bianco, DM. and MK. O’Bryan. 2010. Glioma pathogenesis-related 1-like 1 is testis enriched, dynamically modified, and redistributed during male germ cell maturation and has a potential role in sperm-oocyte binding. Endocrinology. 151:2331–2342.

Gibbs, GM. and MK. O’Bryan. 2007. Cysteine rich secretory proteins in reproduction and venom. Society for Reproduction and Fertility. 65:261–267.

Gibbs, GM., Roelants, K. and MK O’Bryan. 2008. The CAP superfamily: Cysteine-RIch Secretory Proteins, antigen 5, and pathogenesis-related 1 protein—roles in reproduction, cancer, and immune defense. Endocrine Reviews. 29:865–897.

Gibbs, G.M., Scanlon, M.J., Swarbrick, J., Curtis, S., Gallant, E., Dulhunty, A.F. and M.K. O’Bryan. 2006. The cysteine-rich secretory protein domain of Tpx-1 is related to ion channel toxins and regulates ryanodine receptor Ca2+ signaling. Journal of Biological Chemistry. 281:4156–4163.

Gunes, S., Sengupta, P., Henkel, R., Alguraigari, A., Sinigaglia, M. M., Kayal, M. and A. Agarwal. 2018. Microtubular dysfunction and male infertility. The World Journal of Mens Health. 36: e38.

Guo, M., Teng, M., Niu, L., Liu, Q., Huang, Q. and Q. Hao. 2005. Crystal structure of the cysteine-rich secretory protein stecrisp reveals that the cysteine-rich domain has a K‏ channel inhibitor-like fold. Journal of Biological Chemistry. 280:12405–12412.

Hamann, H., Jude, R., Sieme, H., Mertens, U., Topfer-Petersen, E., Distl, O. and T. Leeb. 2007. A polymorphism within the equine CRISP3 gene is associated with stallion fertility in Hanoverian warmblood horses. Animal Genetics.38: 259–264.

Heidary, Z., Zaki-Dizaji, M., Saliminejad, K. and H.R. Khorramkhorshid. 2019. Expression Analysis of the CRISP2, CATSPER1, PATE1 and SEMG1 in the Sperm of Men with Idiopathic Asthenozoospermia. Journal of Reproduction & Infertility. 20: 70–75.

Ito, N., Mita, M., Takahashi, Y., Matsushima, A., Watanabe, YG., Hirano, S. and S.Odani. 2007. Novel cysteine-rich secretory protein in the buccal gland secretion of the parasitic lamprey, Lethenteron japonicum. Biochemical and Biophysical Research Communications. 358:35–40.

Jamsai, D., Bianco, DM., Smith, SJ., Merriner, DJ., Ly-Huynh, JD., Herlihy, A., Niranjan, B., Gibbs, GM. and MK. O’Bryan. 2008. Characterization of gametogenetin 1 (GGN1) and its potential role in male fertility through the interaction with the ion channel regulator, cysteine-rich secretory protein 2 (CRISP2) in the sperm tail. Reproduction. 135:751–759.

Jamsai, D., Reilly, A., Smith, SJ., Gibbs, GM., HWGG, B., RI ML., De Kretser, DM. and MK. O’Bryan. 2008. Polymorphisms in the human cysteine rich secretory protein 2 (CRISP2) gene in Australian men. Human Reproduction. 23:2151–2159.

Jamsai, D., Rijal, S., Bianco, DM., O’Connor, AE., Merriner, DJ., Smith, SJ., Gibbs, GM. and MK. O’Bryan. 2010. A novel protein, sperm head and tail associated protein (SHTAP), interacts with cysteine-rich secretory protein 2 (CRISP2) during spermatogenesis in the mouse. Biology of the Cell.102:93–106.

Kliesch, S. 2014. Diagnosis of male infertility: diagnostic work-up of the infertile man. European Urology Supplements. 13(4): 73–82.

Koppers, AJ., Reddy, T. and MK. O’Bryan. 2011. The role of cysteine‑rich secretory proteins in male fertility. Asian Journal of Andrology. 13: 111–7.

Krausz, C.G. and D.T. Carrell. 2014. Advances in understanding the genetics underlying male infertility and evolving diagnostic and treatment options. Andrology. 2:302-303.

Laine, M., Porola, P., Udby, L., Kjeldsen, L., Cowland, JB., Borregaard, N., Hietanen, J., Stahle, M., Pihakari, A. and YT. Konttinen. 2007. Low salivary dehydroepiandrosterone and androgen-regulated cysteine-rich secretory protein 3 levels in Sjogren’s syndrome. Arthritis & Rheumatology. 56: 2575–2584.

Lim, S., M., Kierzek, A. E., O'Connor, C., Brenker, D. J., Merriner, H., Okuda, M., Volpert, A., Gaikwad, D., Bianco, D., Potter, R., Prabhakar, T., Strünker, and M. K. O'Bryan, 2019. CRISP2 Is a Regulator of Multiple Aspects of Sperm Function and Male Fertility. Endocrinology, 160(4), 915–924. https://doi.org/10.1210/en.2018-01076

Liu, F.J., Liu, X., Han, J.L., Wang, Y.W., Jin, S.H., Liu, X.X., Liu, J., Wang, W.T. and W.J. Wang. 2015. Aged men share the sperm protein PATE1 defect with young asthenozoospermia patients. Human Reproduction. 30: 861–869.

Nolan, MA., Wu, L., Bang, HJ., Jelinsky, SA., Roberts, KP., Turner, TT., Kopf, GS. and DS. Johnston. 2006. Identification of rat cysteine-rich secretory protein 4 (Crisp4) as the ortholog to human CRISP1 and mouse Crisp4. Biology of Reproduction.74:984–991.

Robert, F. and J. Pelletier. 2018. Exploring the impact of single-nucleotide polymorphisms on translation. Frontiers in Genetics. 9:507.

Sanchez-Cardenas, C., Montoya, F., Navarrete, F.A., Hernandez-Cruz, A., Corkidi, G., Visconti, P.E. and A. Darszon. 2018. Intracellular Ca2+ threshold reversibly switches flagellar beat off and on. Biology of Reproduction. 99: 1010–1021.

Semagn, K., Babu, R., Hearne, S. and M. Olsen. 2014. Single nucleotide polymorphism genotyping using Kompetitive Allele Specific PCR (KASP): Overview of the technology and its application in crop improvement. Molecular Breeding. 33(1): 1-14.

Shorter, J. R., Odet, F., Aylor, D. L., Pan, W., Kao, C. Y., Fu, C. P. and R. W. Feathers. 2017. Male infertility is responsible for nearly half of the extinction observed in the mouse collaborative cross. Genetics. 206(2): 557-572.

Singh, A.P. and S. Rajender. 2015. CatSper channel, sperm function and male fertility. Reproductive BioMedicine.30: 28–38.

Skakkebaek, N. E., Rajpert-De Meyts, E., Buck Louis, G. M., Toppari, J., Andersson, A.-M., Eisenberg, M. L., and Juul, A. (2016). Male reproductive disorders and fertility trends: influences of environment and genetic susceptibility. Physiological, 96(1), 55–97. doi:10.1152/physrev.00017.2015

S. M. Eidan and S. A. Khudhir .2023. Association between ATP1A1 gene polymorphisms with semen characteristics in holstein bulls, Iraqi Journal of Agricultural Sciences, 54(2): 330–337. https://doi.org/10.36103/ijas.v54i2.1706

Sun, X. H., Zhu, Y. Y., Wang, L., Liu, H. L., Ling, Y., Li, Z. L. and L. B. Sun. 2017. The Catsper channel and its roles in male fertility: a systematic review. Reproductive Biology and Endocrinology. 15(1): 65.

Tabarek A. A. and M. A. Reema 2023. Genetic polymorphisms of Hla-G gene in rheumatoid arthritis. Iraqi Journal of Agricultural Sciences, 54(2): 378–387. https://doi.org/10.36103/ijas.v54i2.1712

Tamburrino, L., Marchiani, S., Vicini, E., Muciaccia, B., Cambi, M., Pellegrini, S., and E. Baldi, 2015. Quantification of CatSper1 expression in human spermatozoa and relation to functional parameters. Human Reproduction. 30(7): 1532-1544.

Tüttelmann, F., Ruckert, C. and A. Röpke. 2018. Disorders of spermatogenesis: perspectives for novel genetic diagnostics after 20 years of unchanged routine. Journal of Medical Genetics. 30(1):2–20.

Uddin, S., Ibne Wahed, I., Uddin S., Anwarul Haque, I. and R. Nejum. 2018. Current Consequence and Research of Human Infertility in Bangladesh. Journal of Reproductive Endocrinology & Infertility. 3 (4): 1-8.

Vaughan, D.A. and D. Sakkas. 2019. Sperm selection methods in the 21st century. Biology of Reproduction. 101: 1076–1082.

Virtanen, HE., Jorgensen, N. and J. Toppari. 2017. Semen quality in the 21st century. Nat Rev Urol.14:120–30.

WHO. 2016. Sexual and reproductive health, Multiple definitions of infertility, Cambridge, Cambridge, University Press.183.

Winters, BR. and TJ. Walsh. 2014. The epidemiology of male infertility. Urologic Clinics of North America – Journals. 41(1):195–204.

World Health Organization. WHO Laboratory Manual for the Examination and Processing of Human, Semen and Sperm-Cervical Mucus Interaction, 5th ed. World Health Organization: Geneva, Switzerland, 2010.

Wu, Q. 2017. The susceptibility of FSHB-211G> T and FSHR G-29A, 919A> G, 2039A> G polymorphisms to men infertility: an association study and meta-analysis. BMC Medical genetics. 18 (1): 81.

Zaid A. Hussein and Abdulkareem A. Al-Kazaz .2023. Bioinformatics evaluation of CRISP2 gene SNPS and their impacts on protein. Iraqi Journal of Agricultural Sciences, 54(2): 369–377. https://doi.org/10.36103/ijas.v54i2.1711

Zhang, S., Wang, Q.M., Ding, X.P., Wang, T., Mu, X.M. and Z.Y. Chen. 2016. Association of polymorphisms in PATE1 gene with idiopathic asthenozoospermia in Sichuan. Journal of Reproductive Immunology. 118: 54–60.

Zhou, J.H., Zhou, Q.Z., Lyu, X.M., Zhu, T., Chen, Z.J., Chen, M.K., Xia, H., Wang, C.Y., Qi, T., Li, X., et al. 2015. The expression of cysteine rich secretory protein 2 (CRISP2) and its specific regulator miR-27b in the spermatozoa of patients with asthenozoospermia. Biology of Reproduction.92:28.1–9 https://doi.org/10.1095/biolreprod.114.124487.

Downloads

Published

2023-06-25

Issue

Section

Articles

How to Cite

Zaid A. H, & Abdulkareem A. Al-Kazaz. (2023). GENETIC POLYMORPHISMS OF CRISP2 GENE IN ASSOCIATION WITH INFERTILITY IN IRAQI PATIENTS . IRAQI JOURNAL OF AGRICULTURAL SCIENCES, 54(3), 657-666. https://doi.org/10.36103/ijas.v54i3.1743

Similar Articles

11-20 of 31

You may also start an advanced similarity search for this article.