Skip to main content
Download PDF

Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with idiopathic azoospermia and oligospermia risk in Iranian population

BMC Medical Genomics volume 15, Article number: 47 (2022) Cite this article

Abstract

Background

Male infertility is a heterogeneous disease which can occur due to spermatogenesis defects. The idiopathic azoospermia and oligospermia are the common cause of male infertility with unknown underlying molecular mechanisms. The aim of this study was to investigate association of idiopathic azoospermia and oligospermia with single-nucleotide polymorphisms of CATSPER1, SPATA16 and TEX11 genes in Iranian-Azeri men.

Methods

In this case–control study, we recruited 100 infertile men (case group) and 100 fertile men (control group) from Azeri population in north western provinces, Iran, population. The genomic DNA was extracted using a proteinase K method from peripheral blood leukocytes. The genotypes analysis was conducted using tetra-primer amplification refractory mutation system-polymerase chain reaction method. The obtained data were analyzed by statistical software.

Results

We found a significant difference in the frequencies of heterozygote AB and mutant homozygote BB genotypes in the CATSPER1 (rs2845570) gene polymorphism between patients and healthy controls (p < 0.05). Moreover, we observed a significant difference in the frequencies of heterozygote BA genotype in the SPATA16 (rs1515442) gene polymorphism between patients and healthy controls (p < 0.05). However, no significant difference was found in genotypes distribution of case and control groups in the TEX11 (rs143246552) gene polymorphism.

Conclusion

Our finding showed that the CATSPER1 (rs2845570) and SPATA16 (rs1515442) genes polymorphism may play an important role in idiopathic azoospermia and oligospermia in Iranian Azeri population. However, more extensive studies with larger sample sizes from different ethnic origins are essential for access more accurate results.

Peer Review reports

Background

Infertility is defined by the world health organization as a disorder of reproductive system that is one of the important problems in 10–15% of couple worldwide, which male infertility factors are responsible for 20–30% of all human infertility cases [1, 2]. One of the common cause of the male infertility is defects in quality and quantity of sperm, which can occur by effects of genetic variants and environmental factors [3, 4]. The idiopathic azoospermia and oligospermia are common spermatogenesis disorders in men, and is observed in a high proportion of infertile men [5]. However, the underlying molecular mechanisms of the spermatogenesis defects remain unknown [6, 7].

Evidences suggested that male infertility can occur due to mutations or single-nucleotide polymorphisms (SNPs) in various genes [8, 9]. Recently, much studies have been performed to investigate diverse mutations and SNPs in candidate genes involved in male infertility [10, 11]. Miscellaneous variants in CATSPER1, SPATA16, and TEX11 genes are identified that play important roles in pathogenesis of sperm morphology (teratozoospermia), sperm motility parameters (asthenozoospermia), or sperm number (oligozoospermia or azoospermia) in human [12].

The cation channel of sperm associated (CATSPER1) gene is encodes an ion channel that involved in calcium (Ca2+) transport and play an important role in sperm motility [13]. Recently, association of CATSPER1 gene variants with male infertility was reported [14]. The insertion mutations in this gene can cause to reduced fertility through sperm defects and asthenozoospermia [15]. In addition, other sperm defects such as low sperm count, reduced semen volume, non-motile sperm or reduced sperm motility, and increased structural abnormality in spermatozoa are reported in infertile males with CATSPER1 gene mutation [14].

The spermatogenesis associated (SPATA16) gene is encodes a protein located in Golgi apparatus and pro-acrosomic vesicles which is associated with globozoospermia [16]. This gene plays an important role in spermatogenesis and sperm production with a major role in development of testis. Expression of SPATA16 gene is extremely upregulated in human testes during puberty [17]. Several mutations and SNPs on this gene are reported in patients with non-syndromic monogenic male infertility [18].

The testis expressed (TEX11) gene is encodes a tetratricopeptide repeat motif that located in cytoplasm and spermatogonia nuclei type B and involved in protein–protein interactions in human [19]. This gene is exclusively expressed in human testis with the highest level in the zygotene phase of spermatocytes, and a basal level in late pachytene phase of spermatocytes [20, 21]. High expression of TEX11 gene in early spermatocytes and spermatogonia type B indicate that TEX11 gene plays a critical role in early stage of germ cells development [21].

To date, association of CATSPER1 (rs2845570), SPATA16 (rs1515442), and TEX11 (rs143246552) genes polymorphism and male infertility was not investigated in Iranian Azeri population. Therefore, we investigated association of these polymorphisms and idiopathic male infertility in Iranian Azeri patients with idiopathic azoospermia and oligospermia.

Methods

Study subjects

In this case–control study, we recruited 200 Iranian Azeri men (25–50 years old) who were referred to Department of Infertility, Valiasr Hospital, Tabriz, Iran, during January 2018–December 2020. The case group consisted of 100 infertile males with confirmed idiopathic azoospermia and oligospermia using semen analysis. The control group consisted of 100 healthy fertile males without any abnormal sperm. The infertile males with ejaculatory duct obstruction, hypogonadotropic, orchitis, hypogonadism, cryptorchidism, as well as abnormal karyotype and/or microdeletions on Y chromosome were excluded from study. The characteristics and demographic variables of all subjects, (age, body mass index-BMI, alcohol drinking, tobacco smoking, family history of azoospermia and/or oligospermia, and semen parameters) were collected by questionnaires and interviews (Table 1). To prevent epidemiological bias, all studied subjects were recruited from the East Azerbaijan province, Iran. All participants were matched for age, races, and ethnic, as well as were genetically unrelated. This study was confirmed by ethical committee of Islamic Azad University, North Tehran Branch, Tehran, Iran (The ethical code: IR.IAU.TNB.REC.1399.030). The subjects were informed about the study, and signed a consent form according to the Declaration of Helsinki ethical standards.

Table 1 The demographic variables and characteristics of the studied patients and healthy control
Full size table

DNA extraction

The peripheral blood sample (3 ml) were received from all patients and healthy controls, and collected into vials containing Ethylene diamine tetraacetic acid (EDTA) as an anticoagulant. The proteinase K method was employed to extraction of genomic DNA from collected peripheral blood samples. The nanodrop instrument was used to confirm quantity of the extracted DNA samples according to OD 260/280 ratio (desirable ratio was 1.7–1.9). Also, agarose gel electrophoresis was used to confirm quality of the extracted DNA samples. The genomic DNA samples with acceptable quantity and quality were stored at − 20 °C until genotyping.

Primer design and synthesis

The reference sequences of CATSPER1, SPATA16 and TEX11 genes was obtained from National Center for Biotechnology Information (NCBI) online database (https://www.ncbi.nlm.nih.gov/gene). The primers design was conducted using Primer3 software for detection of CATSPER1 (rs2845570), SPATA16 (rs1515442) and TEX11 (rs143246552) genes polymorphism. The sequences of the designed primers were sent to SinaClon Company, Iran for synthesis. The characteristics and sequences of the synthesized primers are presented in Table 2.

Table 2 The characteristics and sequences of primers used for detection of genes polymorphisms
Full size table

DNA genotyping

Genotyping analysis of the obtained DNA samples from patients and control group was performed using tetra-primer amplification refractory mutation system-polymerase chain reaction (Tetra-ARMS-PCR) method and specific primers (Table 2) for CATSPER1 (rs2845570), SPATA16 (rs1515442) and TEX11 (rs143246552) genes polymorphism. PCR amplification was conducted in a 25 μL total volume: template DNA (50 ng), forward primer (250 nM), reverse primer (250 nM), PCR Master Mix (1×). The condition of PCR reaction was as following: 1 cycle initial denaturation for 5 min in 94 °C, 30 cycles denaturation for 5 min in 94 °C, 30 cycles annealing for 45 s, 30 cycles extension for 45 s in 72 °C, 1 cycle final extension for 5 min in 72 °C. The obtained PCR products were electrophoresed on 2% agarose gel, and DNA bands size were estimated by a 50 bp marker (ladder). Presence of each alleles was detected according to bands size as showed in Table 2.

Statistical analysis

The obtained data were analyzed using statistical SPSS software (version 21.0). Association of CATSPER1 (rs2845570), SPATA16 (rs1515442) and TEX11 (rs143246552) genes polymorphism with azoospermia and oligospermia were investigated using logistic regression. Fisher’s exact test and chi-square (χ2) test were used to analysis of Hardy–Weinberg equilibrium (HWE) in genotypes distribution of case and control groups. Differences in demographic variables and characteristics of the studied infertile patients and healthy controls were analyzed by independent sample t-test. The statistically significant was considered as p < 0.05.

Results

Demographic characteristics

The demographic variables and characteristics of patients and healthy controls are presented in Table 1. The statistical analysis demonstrated that there were no significant differences between patients and healthy controls in terms of alcohol drinking, body mass index (BMI), and age (p > 0.05); whereas we find a significant difference between patients and healthy controls in term of positive family history of infertility and tobacco smoking (p < 0.05). These results indicated that the positive family history and tobacco smoking can cause to increase male azoospermia and oligospermia risk.

Hardy–Weinberg equilibrium

The statistical analysis indicated that the genotype distribution of CATSPER1 (rs2845570), SPATA16 (rs1515442) and TEX11 (rs143246552) genes polymorphism in patients and healthy controls were in agreement with HWE (p > 0.05).

Genotype and allele distribution

The genotype and allele distribution of patients and healthy controls are presented in Table 3. Our study indicated a significant correlation between CATSPER1 (rs2845570) and SPATA16 (rs1515442) genes polymorphisms and idiopathic azoospermia and oligospermia; whereas, no correlation was found between TEX11 (rs143246552) gene polymorphism and idiopathic azoospermia and oligospermia (Table 3).

Table 3 Genotype and allele frequencies of the studied polymorphisms in patients and healthy control
Full size table

In the CATSPER1 (rs2845570) gene polymorphism, frequency of wild homozygous (GG), heterozygous (GT), and mutant homozygous (TT) genotypes in case group are 81%, 14% and 5%, respectively. Whereas, frequency of GG, GT, and TT genotypes in case group are 98%, 2% and 0%, respectively. The obtained results demonstrated a significant increased risk of idiopathic azoospermia and oligospermia in patients with AB (p = 0.001; OR = 8.47; 95% CI: 2.14–38.1) and BB (p = 0.021; OR = infinity; 95% CI: 1.7-infinity) genotypes. We suggested that presence of B mutant allele can cause to significantly increase in idiopathic azoospermia and oligospermia (Table 3).

In the SPATA16 (rs1515442) gene polymorphism, frequency of wild homozygous (TT), heterozygous (TC), and mutant homozygous (CC) genotypes in case group are 87%, 12% and 1%, respectively. Whereas, frequency of TT, TC, and CC genotypes in control group are 96%, 4% and 0%, respectively. We indicated that the heterozygote AB (p = 0.039; OR = 3.31; 95% CI 1.01–9.61) genotype can cause to a significant increase in risk of idiopathic azoospermia and oligospermia (Table 3).

In the TEX11 (rs143246552) gene polymorphism, frequency of wild homozygous (TT), heterozygous (TC), and mutant homozygous (CC) genotypes case group are 95%, 2% and 3%, respectively. Whereas, frequency of TT, TC, and CC genotypes in control group are 98%, 2% and 0%, respectively. We did not find any significant correlation between TEX11 (rs143246552) gene polymorphism and idiopathic azoospermia and oligospermia (Table 3).

Discussion

Infertility is defined as the inability to conceive after at least twelve months of regular and unprotected intercourse [22]. Idiopathic azoospermia and oligospermia are the common type of male infertility, which has recently become a research focus. The azoospermia and oligospermia etiology are includes abnormal immunity, infection, endocrine dysfunction, abnormal semen liquefaction, chromosomal abnormalities, varicocele, and abnormal sperm structure. Idiopathic azoospermia and oligospermia, with complex molecular mechanisms, can cause to abnormal sperm quantity that closely associated with abnormal fertilization [23, 24]. In the recent years, extensive studies have been performed to identify of molecular mechanisms of male infertility; however, a large proportion of male infertility cases are idiopathic. Evidence suggested that the common genetic causes of male azoospermia or oligospermia are related to mutations and SNPs on involved genes in spermatogenesis [7, 25].

In the present study, we recruited 100 patients with idiopathic male infertility (azoospermia and/or oligospermia) and 100 healthy controls from Iranian Azeri population in order to investigate correlation of CATSPER1 (rs2845570), SPATA16 (rs1515442), and TEX11 (rs143246552) genes polymorphism with idiopathic azoospermia and oligospermia risk. We demonstrated a correlation between CATSPER1 (rs2845570) and SPATA16 (rs1515442) genes polymorphisms with idiopathic azoospermia and oligospermia. However, no correlation was observed between TEX11 (rs143246552) gene polymorphism and idiopathic azoospermia and oligospermia.

Previous studies have demonstrated that CATSPER1 gene is strongly associated with sperm motility as well as acrosome reaction and sperm hyper-activation [26, 27]. Moreover, clinical studies have reported that abnormal expression of CATSPER1 gene are associated with idiopathic infertility patients with decreased sperm motility [28, 29]. So far, only two studies have been investigated association of CATSPER1 gene polymorphisms with idiopathic male infertility. In a study by Rahimpour Goushchi et al. [30] reported that the frequency of the CC allele in CATSPER1 rs1893316 polymorphism significantly increased in patients with male infertility in Iranian Azeri population. In another study by Shu et al. [31] reported that there is no significant association between CATSPER1 rs2845570 polymorphism and male infertility in Chinese population. To our knowledge, the present study is the first report on significant association of CATSPER1 rs2845570 polymorphism and male infertility in the world.

Recently, studies have suggested that SPATA16 gene is involved in sperm production and can cause to globozoospermia, testicular diseases, spermatogenesis arrest, and sperm aneuploidy in human [32, 33]. So far, very limited studies have been reported on SPATA16 gene polymorphisms and male infertility. Therefore, the exact role of SPATA16 gene polymorphisms are unknown in molecular pathogenesis of male infertility. In a study by Roozbahani et al. (2017) reported that there is no significant association between SPATA16 rs137853118 exon 4 polymorphism and male infertility in Iranian population [32]. In another study by Dom et al. [18] suggested that the homozygous c.848G > A mutation in SPATA16 gene can cause to male infertility with an autosomal recessive mode of transmission in three patients from a Jewish family. To our knowledge, this study is the first description in association of SPATA16 (rs1515442) genes polymorphism and male infertility in the world.

Evidence indicated that TEX11 gene is involved in chromosomal synapsis and meiotic recombination and can cause to oligozoospermia, azoospermia, meiotic arrest, and male infertility [34, 35]. In recent years, two studies extensively investigated TEX11 gene polymorphisms correlation with male infertility [36, 37]. In a study by Sezavar et al. [36] reported that rs6525433 polymorphism in TEX11 gene were not associated with risk of azoospermia in Iranian patients with infertility. In another study by Zhang et al. [37] indicated that there is a significant association between TEX11 rs6525433 polymorphism and male infertility in Chinese population; whereas they found no significant association between TEX11 rs4844247 polymorphism and male infertility in this population. However, no study has been reported on effect of TEX11 rs143246552 polymorphism on male infertility. To our knowledge, our study is the first report on association lack of TEX11 rs143246552 polymorphism and male infertility in the world.

Results contradiction reported by different studies might be due to other involved genes SNPs that cause male infertility, differences in geographic area, sample size and sample selection bias, genetic background of population and heterogeneity in ethnicity and race, and environmental factors [38, 39].

Conclusions

In general, our study provided a more understanding of male infertility as a heterogeneous disorder, and suggested that CATSPER1 (rs2845570) and SPATA16 (rs1515442) genes polymorphism are significantly associated with the risk of idiopathic azoospermia and oligospermia in Iranian Azeri population. In addition, we found no significant association between SPATA16 (rs1515442) gene polymorphism and idiopathic azoospermia and oligospermia in Iranian Azeri population. Therefore, to access more accurate results in association of these polymorphisms with idiopathic azoospermia and oligospermia, more extensive studies are recommended with larger sample size on other populations, ethnic origins, and races.

Availability of data and materials

The datasets generated during the current study are available in the [zenodo] repository, Accession No.: 5885267 (https://zenodo.org/record/5885267).

Abbreviations

SNP:

Single nucleotide polymorphism

Tetra-ARMS-PCR:

Tetra-primer amplification refractory mutation system-polymerase Chain reaction

EDTA:

Ethylene diamine tetraacetic acid

SPSS:

Statistical package for the social sciences

HWE:

Hardy–Weinberg equilibrium

OR:

Odds ratios

CI:

Confidence interval

BMI:

Body mass index

IVF:

In vitro fertilization

NCBI:

National center for biotechnology information

References

  1. Coutton C, Satre V, Arnoult C, Ray P. Genetics of male infertility: the new players. Med Sci. 2012;28(5):497–502.

    Google Scholar 

  2. Soheilyfar S, Nikyar T, Fathi Maroufi N, Mohebi Chamkhorami F, Amini Z, Ahmadi M, Haj Azimian S, Isazadeh A, Taefehshokr S, Taefehshokr N. Association of IL-10, IL-18, and IL-33 genetic polymorphisms with recurrent pregnancy loss risk in Iranian women. Gynecol Endocrinol. 2019;35(4):342–5.

    Article  CAS  Google Scholar 

  3. Nasirpour H, Azari Key Y, Kazemipur N, Majidpour M, Mahdavi S, Hajazimian S, Issazadeh A, Taefehshokr S. Association of rubella, cytomegalovirus, and toxoplasma infections with recurrent miscarriages in Bonab-Iran: a case-control study. Gene Cell Tissue. 2017;4(3):e60891.

    Google Scholar 

  4. Hajizadeh YS, Emami E, Nottagh M, Amini Z, Maroufi NF, Azimian SH, Isazadeh A. Effects of interleukin-1 receptor antagonist (IL-1Ra) gene 86 bp VNTR polymorphism on recurrent pregnancy loss: a case-control study. Horm Mol Biol Clin Investig. 2017;30(3):20170010.

    CAS  Google Scholar 

  5. Curi SM, Ariagno JI, Chenlo PH, Mendeluk GR, Pugliese MN, Sardi Segovia LM, Repetto HE, Blanco AM. Asthenozoospermia: analysis of a large population. Arch Androl. 2003;49(5):343–9.

    Article  CAS  Google Scholar 

  6. Isazadeh A, Hajazimian S, Rahmani SA, Mohammadoo-Khorasani M, Samanmanesh S, Karimkhanilouei S. The effects of Factor II (rs1799963) polymorphism on recurrent pregnancy loss in Iranian Azeri women. Riv Ital Med Lab. 2017;13(1):37–40.

    Article  Google Scholar 

  7. Isazadeh A, Hajazimian S, Rahmani SA, Mohammadoo-Khorasani M, Moghtaran N, Maroufi NF. The effect of factor-xi (rs3756008) polymorphism on recurrent pregnancy loss in Iranian Azeri women. Gene Cell Tissue. 2017;4(1):e43717.

    Google Scholar 

  8. Shiralizadeh J, Barmaki H, Haiaty S, Faridvand Y, Mostafazadeh M, Mokarizadeh N, Kamrani A, Isazadeh A, Maroufi NF. The effects of high and lowdoses of folic acid on oxidation of protein levels during pregnancy: a randomized double-blind clinical trial. Horm Mol Biol Clin Investig. 2017;33(3):20170039.

    Google Scholar 

  9. Isazadeh A, Azimian SH, Tariverdi N, Rahmani SA, Esmaeili M, Karimkhanilouei S, Mohammadoo-Khorasani M. Effects of coagulation factor XIII (Val34Leu) polymorphism on recurrent pregnancy loss in Iranian Azeri women. LaboratoriumsMedizin. 2017;41(2):89–92.

    Article  CAS  Google Scholar 

  10. Jedidi I, Ouchari M, Yin Q. Autosomal single-gene disorders involved in human infertility. Saudi J Biol Sci. 2018;25(5):881–7.

    Article  CAS  Google Scholar 

  11. Zorrilla M, Yatsenko AN. The genetics of infertility: current status of the field. Curr Genet Med Rep. 2013;1(4):247–60.

    Article  Google Scholar 

  12. Cannarella R, Condorelli RA, Duca Y, La Vignera S, Calogero AE. New insights into the genetics of spermatogenic failure: a review of the literature. Hum Genet. 2019;138(2):125–40.

    Article  CAS  Google Scholar 

  13. Kirichok Y, Navarro B, Clapham DE. Whole-cell patch-clamp measurements of spermatozoa reveal an alkaline-activated Ca 2+ channel. Nature. 2006;439(7077):737–40.

    Article  CAS  Google Scholar 

  14. Avenarius MR, Hildebrand MS, Zhang Y, Meyer NC, Smith LL, Kahrizi K, Najmabadi H, Smith RJ. Human male infertility caused by mutations in the CATSPER1 channel protein. Am J Hum Genet. 2009;84(4):505–10.

    Article  CAS  Google Scholar 

  15. Hildebrand MS, Avenarius MR, Fellous M, Zhang Y, Meyer NC, Auer J, Serres C, Kahrizi K, Najmabadi H, Beckmann JS, Smith RJ. Genetic male infertility and mutation of CATSPER ion channels. Eur J Hum Genet. 2010;18(11):1178–84.

    Article  CAS  Google Scholar 

  16. Perrin A, Coat C, Nguyen MH, Talagas M, Morel F, Amice J, De Braekeleer M. Molecular cytogenetic and genetic aspects of globozoospermia: a review. Andrologia. 2013;45(1):1–9.

    Article  CAS  Google Scholar 

  17. Zhang Q, Zhang F, Chen XH, Wang YQ, Wang WQ, Lin AA, Cavalli-Sforza LL, Jin L, Huo R, Sha JH, Li Z. Rapid evolution, genetic variations, and functional association of the human spermatogenesis-related gene NYD-SP12. J Mol Evol. 2007;65(2):154–61.

    Article  CAS  Google Scholar 

  18. Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS, Oudakker AR, Tournaye H, Charlet N, Lagier-Tourenne C, van Bokhoven H, Viville S. Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am J Hum Genet. 2007;81(4):813–20.

    Article  CAS  Google Scholar 

  19. Chelysheva L, Gendrot G, Vezon D, Doutriaux MP, Mercier R, Grelon M. Zip4/Spo22 is required for class I CO formation but not for synapsis completion in Arabidopsis thaliana. PLoS Genet. 2007;3(5):e83.

    Article  Google Scholar 

  20. Adelman CA, Petrini JH. ZIP4H (TEX11) deficiency in the mouse impairs meiotic double strand break repair and the regulation of crossing over. PLoS Genet. 2008;4(3):e1000042.

    Article  Google Scholar 

  21. Yang F, Gell K, Van Der Heijden GW, Eckardt S, Leu NA, Page DC, Benavente R, Her C, Höög C, McLaughlin KJ, Wang PJ. Meiotic failure in male mice lacking an X-linked factor. Genes Dev. 2008;22(5):682–91.

    Article  CAS  Google Scholar 

  22. Massart A, Lissens W, Tournaye H, Stouffs K. Genetic causes of spermatogenic failure. Asian J Androl. 2012;14(1):40–8.

    Article  CAS  Google Scholar 

  23. Tamburrino L, Marchiani S, Minetti F, Forti G, Muratori M, Baldi E. The CatSper calcium channel in human sperm: relation with motility and involvement in progesterone-induced acrosome reaction. Hum Reprod. 2014;29(3):418–28.

    Article  CAS  Google Scholar 

  24. Guerri G, Maniscalchi T, Barati S, Gerli S, Di Renzo GC, Della Morte C, Marceddu G, Casadei A, Laganà AS, Sturla D, Ghezzi F. Non-syndromic monogenic female infertility. Acta Biomed. 2019;90(Suppl 10):68–74.

    CAS  PubMed  PubMed Central  Google Scholar 

  25. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O, de la Chapelle A. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA–binding protein gene. Nat Genet. 1995;10(4):383–93.

    Article  CAS  Google Scholar 

  26. Qi H, Moran MM, Navarro B, Chong JA, Krapivinsky G, Krapivinsky L, Kirichok Y, Ramsey IS, Quill TA, Clapham DE. All four CatSper ion channel proteins are required for male fertility and sperm cell hyperactivated motility. Proc Natl Acad Sci. 2007;104(4):1219–23.

    Article  CAS  Google Scholar 

  27. Xia J, Ren D. Egg coat proteins activate calcium entry into mouse sperm via CATSPER channels. Biol Reprod. 2009;80(6):1092–8.

    Article  CAS  Google Scholar 

  28. Nikpoor P, Mowla SJ, Movahedin M, Ziaee SA, Tiraihi T. CatSper gene expression in postnatal development of mouse testis and in subfertile men with deficient sperm motility. Hum Reprod. 2004;19(1):124–8.

    Article  Google Scholar 

  29. Li HG, Liao AH, Ding XF, Zhou H, Xiong CL. The expression and significance of CATSPER1 in human testis and ejaculated spermatozoa. Asian J Androl. 2006;8(3):301–6.

    Article  Google Scholar 

  30. Rahimpour Goushchi S, Rahmani SA, Maleki M. Investigating the correlation of polymorphism (rs1893316) Catsper1 gene with asthenozoospermia in men that referred into infertility treatment clinics of east azarbaijan of ACECR. New Cell Mol Biotechnol J. 2017;7(27):99–107.

    Google Scholar 

  31. Shu F, Zhou X, Li F, Lu D, Lei B, Li Q, Yang Y, Yang X, Shi R, Mao X. Analysis of the correlation of CATSPER single nucleotide polymorphisms (SNPs) with idiopathic asthenospermia. J Assist Reprod Genet. 2015;32(11):1643–9.

    Article  Google Scholar 

  32. Roozbahani GA, Sheidai M, Noormohammadi Z, Gourabi H. Association study of SPATA-16 polymorphism with male infertility in Iranian population. Meta Gene. 2017;13:154–8.

    Article  Google Scholar 

  33. Faja F, Pallotti F, Cargnelutti F, Senofonte G, Carlini T, Lenzi A, Lombardo F, Paoli D. Molecular analysis of DPY19L2, PICK1 and SPATA16 in Italian unrelated globozoospermic men. Life. 2021;11(7):641.

    Article  CAS  Google Scholar 

  34. Yatsenko AN, Georgiadis AP, Röpke A, Berman AJ, Jaffe T, Olszewska M, Westernströer B, Sanfilippo J, Kurpisz M, Rajkovic A, Yatsenko SA. X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men. N Engl J Med. 2015;372(22):2097–107.

    Article  CAS  Google Scholar 

  35. Yang F, Silber S, Leu NA, Oates RD, Marszalek JD, Skaletsky H, Brown LG, Rozen S, Page DC, Wang PJ. TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse. EMBO Mol Med. 2015;7(9):1198–210.

    Article  CAS  Google Scholar 

  36. Sezavar H, Noormohammadi Z, Sheidai M. The study of the association of two variants of MLH3 (rs175080) andTEX11 (rs6525433) in Iranian infertile men. Iran J Biol Sci. 2020;14(4):31–41.

    Google Scholar 

  37. Zhang X, Ding M, Ding X, Li T, Chen H. Six polymorphisms in genes involved in DNA double-strand break repair and chromosome synapsis: association with male infertility. Syst Biol Reprod Med. 2015;61(4):187–93.

    Article  CAS  Google Scholar 

  38. Fathi Maroufi N, Gholampour Matin M, Ghanbari N, Khorrami A, Amini Z, Haj Azimian S, Isazadeh A, Taefehshokr S, Taefehshokr N, Baradaran B. Influence of single nucleotide polymorphism in IL-27 and IL-33 genes on breast cancer. Br J Biomed Sci. 2019;76(2):89–91.

    Article  CAS  Google Scholar 

  39. Maroufi NF, Aghayi E, Garshasbi H, Matin MG, Bedoustani AB, Amoudizaj FF, Hajazimian S, Isazadeh A, Taefehshokr S, Taefehshokr N, Baradaran B. Association of rs1946518 C/A polymorphism in promoter region of interleukin 18 gene and breast cancer risk in Iranian women: a case-control study. Iran J Allergy Asthma Immunol. 2019;18(6):671–8.

    Google Scholar 

Download references

Acknowledgements

This article was extracted from the Ph.D. project of Mohammadreza Behvarz where Dr. Seyed Ali Rahmani and Dr. Elham Siasi Torbati supervised, and Dr. Shahla Danaii and Dr. Maryam Bikhof Torbati advised this project. We thank the whole staff of Dr. Rahmani Medical Genetics Laboratory for assistance in the successful strategy of this study.

Funding

None.

Author information

Authors and Affiliations

  1. Department of Genetics, Faculty of Biological Science, North Tehran Branch, Islamic Azad University, Tehran, Iran

    Mohammadreza Behvarz & Elham Siasi Torbati

  2. Department of Medical Genetics, School of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran

    Seyyed Ali Rahmani

  3. Department of Gynecology, Eastern Azerbaijan ACECR ART Center, Eastern Azerbaijan Branch of ACECR, Tabriz, Iran

    Shahla Danaei Mehrabad

  4. Department of Biology, Yadegar-e-Imam Khomeini (RAH) Shahr-e-Rey Branch, Islamic Azad University, Tehran, Iran

    Maryam Bikhof Torbati

Authors
  1. Mohammadreza Behvarz
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Seyyed Ali Rahmani
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Elham Siasi Torbati
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Shahla Danaei Mehrabad
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Maryam Bikhof Torbati
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

MB, SAR, EST: Execution, analysis, and interpretation of data; MB, SD: Manuscript writing and analysis; MB, MBT: Clinical Consultant; SD: Clinical Consultant; SAR: participation in study design, manuscript drafting and critical discussion. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Seyyed Ali Rahmani.

Ethics declarations

Ethics approval and consent to participate

The protocol for this study was approved by the Ethics Committee of the Islamic Azad University, North Tehran Branch, Tehran, Iran (The ethical code: IR.IAU.TNB.REC.1399.030) and was in line with the Helsinki declaration. The all participants provided informed consent documents.

Consent for publication

Not applicable.

Competing interests

The authors declare no competing interests.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

Reprints and Permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Behvarz, M., Rahmani, S.A., Siasi Torbati, E. et al. Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with idiopathic azoospermia and oligospermia risk in Iranian population. BMC Med Genomics 15, 47 (2022). https://doi.org/10.1186/s12920-022-01197-w

Download citation

  • Received:

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1186/s12920-022-01197-w

Keywords

  • Male infertility
  • CATSPER1
  • SPATA16
  • TEX11
  • Polymorphism

BMC Medical Genomics

ISSN: 1755-8794

Contact us