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SEPTIN12 c.474 G > A polymorphism as a risk factor in teratozoospermic patients

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Abstract

Teratozoospermia is a condition related to poor morphologically normal sperm count below the lower reference limit, which could hinder natural conception. Single nucleotide polymorphisms (SNPs) in the genes involved in sperm production and testicular function are proved to be risk factors, resulting in decreased sperm parameters and defects in sperm morphology. c.474 G > A polymorphism in the SEPTIN12 gene which is one of the testis-specific genes creates a novel splice variant and the resulting truncated protein was previously found to be more prevalent in infertile men. We aimed to investigate the association of SEPTIN12 c.474 G > A polymorphism with male infertility in teratozoospermia patients. Forty-eight teratozoospermic patients, diagnosed according to Kruger’s criteria and 164 fertile controls who fathered at least 1 child within 3 years without assisted reproductive technologies were included into our prospective randomized controlled study. PCR–RFLP method was used for genotyping. Although no statistical difference was found between teratozoospermic patients and fertile controls in terms of genotype distributions, significance was identified between the genotypes of all and non-smoking teratozoopermic patients in terms of neck defects. SEPTIN12 c.474 G > A polymorphism was shown to be associated with sperm neck defects in teratozoospermic patients using the dominant statistical model. Smoking was identified as a risk factor for the sperm morphology defects in teratozoospermic A allele carriers.

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The authors confirm that the data supporting the findings of this study are available within the article and its supplementary materials.

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Statistical analyses were performed using SPSS v.21.

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Acknowledgements

The authors would like to thank all the individuals for their cooperation and providing their biological materials for this scientific research.

Funding

The authors did not receive support from any organanization fort he submitted work.

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Authors and Affiliations

  1. Aziz Sancar Institute of Experimental Medicine, Department of Molecular Medicine, İstanbul University, İstanbul, Turkey

    Gülçin ÖZKARA

  2. Department of Molecular Biology Genetics, İstanbul Medeniyet University, İstanbul, Turkey

    Nagehan ERSOY TUNALI

Authors
  1. Gülçin ÖZKARA
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Correspondence to Nagehan ERSOY TUNALI.

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Conflict of interest

The authors declare that they have no conflict of interests. The authors have no relevant financial or non-financial interests to disclose

Ethical approval

The study protocol was approved by the Clinical Research Ethics Committee of the Istanbul University Cerrahpasa Faculty of Medicine (approval number: 83045809/5565). All procedures involving human participants were in accordance with the ethical standarts of the institutional committee and the Declaration of Helsinki.

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Written informed consent was obtained from all participants prior to collecting biological samples.

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Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary file1 (TIFF 248 KB) A sperm with normal morphology according to Kruger’s strict criteria (100X).

11033_2021_6417_MOESM2_ESM.tiff

Supplementary file2 (TIFF 500 KB) Various head defects in spermatozoa (100X). A) Small-head (in the middle), B) Multiple head, C) Round head (lack of acrosome), D) Amorphous and megalo head (on the left), E) Elongated head.

11033_2021_6417_MOESM3_ESM.tiff

Supplementary file3 (TIFF 519 KB) Various neck defects in spermatozoa (100X). A) Cytoplasmic droplet, B) Segmental mitochondrial aplazia, C) Bent neck, D) Thick neck.

11033_2021_6417_MOESM4_ESM.tiff

Supplementary file4 (TIFF 114 KB) Various tail defects in spermatozoa (100X). A) Multiple tail, B) Coiled tail, C) Hairpin , D) Short tail.

11033_2021_6417_MOESM5_ESM.tiff

Supplementary file5 (TIFF 152 KB) RFLP products were electrophoresed on 2% agarose gel and genotypes were determined according to the fragment sizes.

Supplementary file6 (DOCX 20 KB)

Supplementary file7 (DOCX 17 KB)

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ÖZKARA, G., ERSOY TUNALI, N. SEPTIN12 c.474 G > A polymorphism as a risk factor in teratozoospermic patients. Mol Biol Rep 48, 4073–4081 (2021). https://doi.org/10.1007/s11033-021-06417-7

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  • DOI: https://doi.org/10.1007/s11033-021-06417-7

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