Investigation of Single Nucleotide Polymorphism rs 2247911 Frequency in GPRC6A Gene in a Sample of Infertile Men in Syria

Authors

  • Kenda Jawich جامعة دمشق,كلية الصيدلة
  • Marwan Al-Halabi
  • Sahar ALfahoum

Keywords:

Undercarboxylated Osteocalcin, Bone, GPRC6A, Male infertility, Leydig cell, Single Nucleotide Polymorphism

Abstract

Background & Aim: During the last decade studies have uncovered that bone has more functions than was expected. In particular, bone is an endocrine organ secreting a growing number of hormones. In that context the discovery of osteoblast derived hormone Osteocalcin in its undercarboxylated form has significantly broadened the field of bone biology because of the number of physiological processes regulated by this hormone. At present, Osteocalcin has been shown to enhance male fertility through its receptor GPRC6A, Osteocalcin and its receptor (ucOCN/GPRC6A) are a novel endocrinal axis control male fertility through enhancing the biosynthesis of testosterone in parallel with the classical hypothalamus-pituitary-testis which is the main regulator of spermatogenesis. Therefore,  any unbalance in one of the elements of the newly discovered hormonal axis may affect male infertility.

Matrials & Methods: to validate this theory we investigated the impact  of  a single nucleotide polymorphism rs 2247911 in GPRC6A gene on sperm count, we recruited 172 subject including 59 normospermic men as a control group, 62 oligozoospermic (sperm count<39million  sperm/ejaculate), 52 Azoospermic men (sperm count 0 sperm/ejaculate) and 59 age-matched normospermic controls(spermcount>39millionsperm/ejaculate) were prospectively selected.

Results: Our result showed that risk allele A carriers had increased risk of being azoospermic (OR=1.898 fold, p=0.036( and an increased risk of being oligozoospermic by  (OR=2.303fold, p=0.005) we also found differences in mean value of sperm count according to alleles p=0.011, and according to genotype p= 0.0001.

Conclusion: our findings are  in accordance with  the proposed hypothesis of  the regulation of male infertility by bone, which highlights a discovery of  new cross-talk between multiple organs and provides credence to the search of additional endocrine functions of bone.

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Published

2022-10-07

How to Cite

Investigation of Single Nucleotide Polymorphism rs 2247911 Frequency in GPRC6A Gene in a Sample of Infertile Men in Syria. (2022). Damascus University Journal for Medical Sciences, 38(3). https://journal.damascusuniversity.edu.sy/index.php/heaj/article/view/2473