The Impact of Luteinizing Hormone/Chorionic Gonadotropin Hormone Receptor Gene Polymorphism rs68073206 in Men with Non-obstructive Azoospermia: A Case-control Study

Background: The functional consequences of the luteinizing hormone/chorionic gonadotropin hormone receptor (LHCGR) gene single nucleotide polymorphism (rs68073206) on male infertility in patients with non-obstructive azoospermia (NOA) is not clear. Objective: To examine whether the presence of LHCGR gene; rs68073206 single nucleotide polymorphisms (SNPs) can be associated with incidence of non-obstructive azoospermia. Materials and methods: A case-control study comprised of a total of 70 unrelated Iraqi infertile men with non-obstructive azoospermia (zero sperm in semen) whose were on two groups: Group I that were diagnosed to have NOA but didn’t receive infertility treatment yet (33 patient with age of 31.58±1.059 year) and group II that were receiving injectable gonadotropin treatment (37 patient with age of 33.46±1.173 year). In addition to 34 age and BMI matched healthy fertile normozoospermic men (according to the parameters of WHO, 2010). The study population was genotyped by TaqMan assay for LHCGR gene single nucleotide polymorphism (rs68073206). The level of each hormone was estimated by immunoassay technique while the sperm analyses were conducted in accordance with the World Health Organization criteria. Results: The study revealed a statistically significant higher hormonal level of serum inhibin B in infertile group I patients with wild GG genotype (246.445±224.106 pg/ml), and the p-value is (0.0439) as compared to that hormone levels of GT and TT genotypes carriers that were (85.969±71.685 pg/ml) and (56.420±23.988 pg/ml) respectively. ). The genotyping variations of patients, whether carrying the homozygous GG, heterozygous GT or homozygous TT genotype, did not reveal a statistically significant difference in distribution as compared to control individuals. Conclusions: The LHCGR gene rs68073206 polymorphisms in our population having non-obstructive azoospermia can be suggested to have a modulating potential in variable gonadotropin sensitivity. The detected non-significant difference in genotypic prevalence can be attributable to the limited sample size.

Impact of the myosin heavy chain 9 gene single nucleotide polymorphism on inflammatory bowel disease

Background To date, the cause of inflammatory bowel disease (IBD) remains a mystery. A balance between cell proliferation and apoptosis maintains intestinal tissue homeostasis. Dissociation-induced myosin-actin contraction results in stem cell apoptosis. This study aiming to evaluate the influence of the myosin heavy chain 9 (MYH9) gene single nucleotide polymorphism (SNP) on inflammatory bowel disease. Subjects and methods: The study carried on eighty patients with IBD and seventy controls. All participants subjected to history taking, thorough physical examination examination, colonoscopy and laboratory investigations. Genotyping performed for rs3752462 and rs4821480 by SNP assay real-time PCR methods. Results On analyzing rs4821480, The TG and GG genotypes have significant increased distribution among the IBD patients as compared to the controls with 5.3 fold increase in the risk of IBD and higher prevalence of GG genotype in patients with low hemoglobin level and higher BMI. While on analyzing rs3753462 CT and TT genotypes were significantly more frequent in the in the IBD patients as compared to the controls with 4.6 fold increase in the risk of IBD. Conclusion The allele G of rs4821480 and T of rs3753462 of MYH9 gene associated with more susceptibility to IBD.