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Background: Cyclin dependent kinase inhibitor (P21/WAFI) and murine double minute 2 (MDM2) participate in the cell growth regulation. In malignant tumors has been found altered expression of these gene products and has been associated with poor prognosis. Thus, the current study aimed to investigate P21-rs1801270 and MDM2-rs2279744 gene polymorphisms and their impact to lung cancer risk in Iraqi population. Methods: This study included a total of 140 lung cancer patients (101 males and 39 females) were diagnosed with non small cell lung carcinoma, compared with age and sex matched 150 healthy control individuals(105 males and 45 females), between the period of April 2017 to December 2020. The genotyping and allele frequency of C98A P21 and T309G MDM2 were examined by using PCR-RFLP technique. Results: Compared with the P21-98 C and MDM2-309T genotypes, we found that P21-98A and MDM2-309G variants were associated with an increased risk of NSCLC in Iraqi patients (OR= 5.0, C.I= 3.2-14.2, P<0.0001) for AA, (OR= 6.7, C.I= 4.0-12.4, P<0.0001)for GG and (OR= 2.7, C.I= 1.5-4.5, P<0.0003) for CA, (OR= 3.5, C.I= 1.8-5.4, P<0.0001) for GT genotypes. AA and GG genotypes were found to be associated with poor prognosis of NSCLC patients, significant associations were observed with stage (p= 0.02) and metastasis status (p 0.003) for P21 gene, (p= 0.01) and (p= 0.04) for MDM2 gene respectively of NSCLC in elderly and smoking patients. Furthermore, the presence of both P21 AA and MDM2 GG genotypes were associated with an increased the risk of lung cancer by five folds ( OR= 5.2, 95% C.I= 3.0-7.6, P< 0.05) for homogeneity genotypes compared to those who lacked from both genotypes. These results obviously indicate a multiplicative interaction between P21 AA and MDM2 GG genotypes in the risk of developing lung cancer. Conclusions: The incidence of both variant alleles P21 AA and MDM2 GG genotypes increased risk of lung cancer development in men, mainly in smokers older than 45 years. The expression of p21/WAF1 and MDM2 considered as two suitable indicators to predict the prognosis of NSCLC in Iraqi population.

Objective: This study aimed to detect the frequency of the three most common mutations of GJB2 in nonsyndromic sensorineural deafness for Iraqi population.Method: The current case-control study was conducted from January 2018 to November 2019 at ENT Departments from middle Euphrates region of Iraq. The study was included 95 deaf patients group (55 males and 40 females) their age range between 11-40 years old and 21.5 ± 6.3 year (mean ± SD). and 110 healthy control group, their ages range between 10-40 years old and 20.1 ± 5.9 year (mean ± SD), these two groups were matched in age and gender. In order to detect c.35delG, 235delC and 167delT mutations in GJB2 gene, we were employed the polymerase chain reaction – restriction fragment length polymorphism (PCR-RFLP) technique.Results: From 95 deaf patients with non syndromic hearing loss (NSHL), were participated in this study. The c.35delG was the main frequent mutation encountered with GJB2 gene, of the 95 patients, 38(40%) were heterozygous and the others 57(60%) were homozygous genotypes. The second degree mutation in GJB2 gene was c.235delC mutation. Which from the 95 deaf patients, 35 (36.8%) were carried out homozygous, 5 (5.3%) were carried out heterozygous and 55(57.9) of the study individuals were appeared wild genotypes. None of the 95 deaf patients were showed the c.167delT mutation, while Connexin 26 studied mutations were not detected in healthy control group.Conclusion: Our data conclude that the GJB2 c.35delG and c.235delC gene mutations were the main cause of congenital hearing loss in Iraqi deaf population.

Deafness is a total or partial hearing loss that may appear at any age and with different degrees of severity. Approximately 50% of hearing loss have a genetic origin, and among them, non-syndromic sensorineural deafness represents about 70% of the cases. From them, 80% correspond to autosomal recessive inheritance deafness. Autosomal recessive deafness was not studied enough at the molecular level in Iraq. This study aimed to verify the frequency of three GJB2 mutations in non-syndromic sensorineural deafness in the Iraqi population. The current case-control study was conducted from January 2018 to January 2020. The study included 95 deafness patients (55 males and 40 females) and 110 healthy control group. Age and sex were matched between the two groups. In order to detect c.35delG, 235delC, and 167delT mutations in the GJB2 gene, we employed the PCR-RFLP technique. The c.35delG was the main frequent mutation encountered with the GJB2 gene among patients with autosomal recessive non-syndromic sensorineural hearing loss. Among them, 35 (36.8%) were homozygous, 40 (42.1%) were heterozygous, and 20 (21.1%) were wild genotypes. The second-degree mutation in the GJB2 gene was c.235delC mutation, which from the 95 deaf patients, there were 20 (21.1%) with homozygous, 33 (34.7%) heterozygous, and 42 (44.2%) wild genotypes. None of the 95 deaf patients showed the c.167delT mutation, and no mutations appeared in the control group. Our data concluded that the GJB2 c.35delG and c.235delC gene mutations were the main cause of autosomal recessive non-syndromic sensorineural hearing loss in the Iraqi deaf population.

Background Infertility is very common condition and almost 50% of cases are due to male factors. Several genetic and environmental factors are responsible for the poor quality and reduced number of sperms in several cases of infertility. The present study was designed to investigate the association between semen parameters, homocysteine, and the risk of C677T polymorphism of MTHFR gene in infertile males of Iraqi population. Methods This Case–control study has been conducted from February 2019 to July 2021 at a molecular laboratory in the Anatomy and Histology Department/college of Medicine/University of Kufa/Najaf/Iraq. It was composed of 353 infertile male patients. They were divided into five groups: 90 azoospermic, 84 oligospermia, 64 asthenospermic, 50 oligoasthenospermic, and 65 teratospermic with an age range 20–46 years compared with 100 fertile males as control with age range 21–49 years. In order to detect homocysteine levels, we used Hcy ELISA Kit. C677T mutation of MTHFR gene was employed by PCR–RFLP technique. Results Our data revealed three genotypes of MTHFR C677T, 167 (47.3%) subjects had CC genotype, 116 (32.9%) subjects had CT genotype and 70 (21.1%) subjects had TT genotype. Furthermore, T allele was associated with higher risk of infertility in all patients groups for any genetic model. In total infertile subjects (codominant model: CT vs. CC, OR = 2.0, 95% C.I = 1.2–3.3, P = 0.011; TT vs. CC, OR = 4.8, 95% C.I = 3.3–8.2, P = 0.0003; dominant model: CT + TT vs. CC, OR = 2.8, 95% C.I = 1.7–4.5, P = 0.0001). Oligoasthenospermic patients associated with higher risk in CT heterozygous genotype (OR = 2.8, 95% C.I = 1.0–4.9, P = 0.03) and TT homozygous of mutant allele (OR = 6.3, 95% C.I = 1.9–9.2, P = 0.002). Homocystein level was elevated in all infertile groups when compared with control group (P < 0.01), but the elevation was marked in oligoasthenospermia group. As well as, the level of Serum Hcy exhibited the highest value in TT mutant genotype (39.7 µmol/ml) followed by CT genotype (28.5 µmol/ml) while the lowest level of Hcy recorded in CC genotype (14.6 µmol/ml) for oligoasthenospermia group. Conclusions By relating the MTHFR C677T gene mutation with a higher homocystein level, the results showed that Iraqi males with this mutation are more likely to suffer from infertility.