استقصاء تواتر التعدد الشكلي المفرد rs 2247911 في جين GPRC6A لدى عينة من الرجال المصابين بنقص خصوبة في سورية

الملخص EN

Background and 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 and 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.