Anwar Madlool Otaiwi Aljanabi

Introduction: One of serious problems of pregnancy complication is the Pre-eclampsia syndrome (PE) which mostly leads to increase-1568 morbidity and mortality in mother and fetus. Objective: we aimed to study and evaluate the genetic polymorphism contribution of MTHFR gene in preeclampsia patients and healthy pregnant women. Methods: We examined maternal age, gestational age, BMI, serum homocysteine concentration,proteinuria,systolic blood pressure, diastolic blood pressure and MTHFR (C677T) gene polymorphism in 52 PE and 50 healthy pregnant women. After DNA extraction from blood samples of all participants the PCR-RFLP technique were applied for detection of MTHFR gene polymorphism. Results:We found the means of serumhomocysteine concentration,proteinuria, systolic blood pressure, diastolic blood pressure which were significantly higher in PE patients compared to healthy control (P˂0.05). The miner allele frequency of T genotype was significantly higher in PE patientsthan the subjects of control groups(P˂0.0001) and the risk of PE was higher by 20.9 folds in homozygous allele genotype(TT) when compared with wild genotype(CC) (OR 20.9, 95% CI= 4.06-107.4 P= 0.003). Conclusion:We concluded that the TT genotype of MTHFR gene is increased the risk of PE in pregnant patients of Iraqi 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.

Abstract: Background: Breast cancer is the most frequent cancer among women worldwide. In Iraq, it is accounting about one third of the registered women cancers. Different studies have shown that the gene polymorphism in vitamin D receptor (VDR-FOKI) was associated with the susceptibility and pathogenesis of breast cancer. Objective: The study aimed to examine the genotyping utility of Vitamin D receptor (VDR-FokI) gene polymorphism as predictor for the occurrence and progression of breast cancer in Iraqi women. Materials and Methods: This case control study was comprised of two groups, the first group consisted of 300 women histopathologically diagnosed with breast cancer either familial or sporadic with age 22-77 year, the second group included 200 healthy women with age 22-78 year, DNA was extracted from blood and genotyping analysis was carried out by PCR-RFLP. Results: The genotypic analysis revealed that allele frequency of TT genotype (29%), TC genotype (48%), and CC genotype (23%) in breast cancer group, while 64.5%, 30.5% and 5% in the control group respectively. The risk of breast cancer was significantly increased with VDR-FOKI SNP by about three and five folds in heterozygous and homozygous of mutant allele genotypes in patients (OR=3.25, 95% C. I= 2.16-4.89, P=0.0001 and OR= 5.00, 95% C. I= 2.81-8.92, P= 0.0001 respectively) when compared with the homozygous of normal alleles genotype after adjustment for age and BMI. The C allele frequency increased the risk of disease by three and half times when compared with those of T allele (OR= 3.49, 95% C. I= 2.6-4.67, P < 0.0001). Conclusion: We conclude from this study that the gene polymorphism of VDR-FOKI was associated with high risk of development and progression of breast cancer. Keywords: breast cancer, VDR-FOKI, gene, polymorphism, females, Iraq

Abstract. In human gamete development, the important period is spermatogenesis, which is organized by specific genes on Y chromosome. In some cases, the infertile men have shown microdeletions on Y chromosome, which seemed as if the structural chromosome variance is linked to the reduction of sperm count. This study aimed to determine the frequency and patterns of Y chromosome microdeletions in azoospermia factor (AZF) of Iraqi infertile males. Here, 90 azoospermic infertile males as a study group and 95 normal fertile males as control group were investigated for the microdeletion of AZF loci using numerous sequence-tagged sites. Of these 90 infertile male patients, 43 (47.8%) demonstrated Y chromosome microdeletions, in which AZFb region was the most deleted section in azoospermia patients (33.3%) followed by deletions in the AZFc region (23%), while there were no microdeletion in the AZFa region. The largest microdeletion involved in both AZFb and AZFc was detected in six azoospermic patients (6.7%). The present study demonstrated a high frequency of Y chromosome microdeletions in the infertile Iraqi patients which is not reported previously. The high frequency of deletions may be due to the association of ethnic and genetic factors. PCR-based Y chromosome screening for microdeletions has a potential to be used in infertility clinics for genetic counselling and assisted reproduction. Keywords. azoospermia; azoospermia factor; Y chromosome; microdeletions; Iraq.

Abstract Objective : Coronary artery disease is increasing and accounts for a high proportion among others diseases. In Iraq various studies have been reported that the polymorphism of vitamin D receptor VDRFok I gene like rs 2228570 are associated with CAD patients. Aim: This study was aimed to investigate the association between the SNP of VDR Fok I (rs2228570) gene with various anthropometric and biochemical parameters as a risk for CAD in Iraqi population. Methods and Materials : The current case - control study consisted of 300 samples , 150 of them were obtained from CAD patients who underwent the angiography department – heart centre – Al- Hussein Teaching Hospital, Al-Hussein Medical City / Holy Kerbala - Iraq and another 150 healthy control samples. Phenotypic data included body mass index (BMI), levels of fasting blood sugar (FBS), lipid profile, and blood urea, serum creatinine. Genotyping of rs2228570 polymorphism was carried out by PCR–RFLP method. DNA was extracted from genomic whole blood and genotyping was achieved with specific primers to amplify fragments for digestion with restriction enzymes. The enzyme Fok I was used for the digestion of VDR gene product followed by electrophoresis on agarose gel. Various statistical analyses were applied to analyse the data. Result: Digestion of VDR – Fok I gene product (PCR-product ) exhibited an amplicon size of 273 bp, when this amplicon digested with Fok I enzyme, it gives three genotypes indicated one (273bp), two (75 bp + 198 bp) and three (75 bp + 198 bp + 273 bp ) bands for those with wild type (TT), homozygous (CC) and heterozygous (TC) genotypes respectively. Genotype frequencies of rs2228570 polymorphism were found to be consistent with Hardy–Weinberg equilibrium with allele frequencies of TT wild genotype (33.3%), TC heterozygous genotype (46.7%), and CC homozygous genotype (20%) in cases of CAD group while 66.7%, 30 % and 3.3 % for wild, heterozygous, and homozygous in the control group respectively. The homozygous genotype (CC) was significantly (OR= 7.25, CI 2.74-19.20 , P<0.001 ) increased the risk of CAD seven and quarter folds with respect to those of the wild type (TT) after adjustment for age, sex and BMI, while the TC genotype significantly (OR = 2.04, CI 95% ; 1.27- 3.28 , P<0.001) raised the risk of CAD by two folds. Co-dominant genotypes of rs2228570 polymorphism exhibited significant association with anthropometric and biochemical parameters such as BMI, and lipid profile among patients groups as compared with control groups. Conclusion: The obtained results improved that the gene polymorphism of VDR-Fok I was associated with high risk for development and progression of CAD and exhibited a significant association with increased BMI and lipid profile of coronary artery diseases of Iraqi population. Keywords: Coronary artery disease (CAD) ; vitamin D receptor (VDR) ; Fok I.

Abstract This study aimed to address the association of C677T point mutation of MTHFR gene with Diabetic Nephropathy (DN) in Iraqi type 2 diabetes mellitus patients (DM). We examined age; gender; duration of diabetic, Body mass index, glycosylated hemoglobin (HbAIc), albuminuria, blood sugar (RBS), homocysteine, serum urea and serum creatinine and MTHFR (C677T) gene polymorphism in 65 (DN) and 70 (DM) patients. After DNA extraction from blood samples of all participants the PCR-RFLP technique were applied for detection of MTHFR gene polymorphism.We found the means of serum homocysteine concentration, proteinuria, blood urea, serum creatinine which were significantly increased in DN patients when compared with DM patients (P˂0.05). The miner allele frequency of T genotype was significantly increased in DN patients compared to the DM patients (P˂0.0001) and the risk of DN was higher by 8.09 folds in homozygous allele genotype (TT) when compared with wild genotype (CC) ( OR 8.09, 95% CI= 2.6-24.8 P= 0.0003).We concluded that the TT genotype of MTHFR gene is increased the risk of DN in type2 diabetic nephropathy patients of Iraqi population.