Objective: Various reports have examined the contribution of the CTLA4 c.49A > G (rs231775; p.Thr17Ala) gene variant with different cancerous disorders. This meta-analysis was executed to further probe into the involvement of this missense variant with the susceptibility for hepatocellular carcinoma (HCC) and gastric cancer (GC). Methodology: Following a wide-based scrutinized search of the internet done by three independent researchers for the contribution of the CTLA4 c.49A > G (rs231775; p.Thr17Ala) variant with the cancer risk up to February 2021, only 16 case-control studies were found relevant and usable to the analysis out of 575 total retrieved reports. Multiple genetic models were checked for the proposed association through the computation of the odds ratio (OR) in addition to their 95% confidence intervals (95%CIs). Stratification and regression analysis was also carried out for the analyzed reports based on their geographical distributions, genotyping techniques, source of cancer-free controls, genetic equilibrium within cancer-free controls, and quality score. In addition, trial sequential analysis (TSA) was applied to test for the adequacy of the total sample size. Results: This meta-analysis has included 4320 HCC and GC patients in conjunction with 6601 cancer-free controls. This work disclosed a significant association for the CTLA4 c.49A > G (rs231775; p.Thr17Ala) variant with HCC among overall subjects tested by the recessive model [OR = 1.235, 95% CI = 1.050-1.453, P-value = 0.011]. Similarly, an elevated risk of GC was noticed associated with this variant within the overall subjects tested by the allelic model [OR = 1.225, 95% CI = 1.070-1.401, P-value = 0.003], and dominant model [OR = 1.352, 95% CI = 1.081-1.691, P-value = 0.008]. Furthermore, the stratification analysis showed a verification of correlation for this variant with HCC in Asian subjects under the recessive model, while the association was observed to be significant with GC in Asian and Caucasian patients under the dominant model. TSA confirmed that this work had significant findings noting that the collective Z-curve spanned the examining borderlines prior to attaining sample size confirming the acceptability of the study sample size. Conclusion: The CTLA4 c.49A > G (rs231775; p.Thr17Ala) gene variant could be considered as an actual risk factor for the susceptibility of HCC and GC warranting efficient and adequate genetic counseling for this gene variant carriers.

A meta-analysis was performed to identify patients with coronavirus disease 2019 (COVID-19) presenting with gastrointestinal (GI) symptoms during the first and second pandemic waves and investigate their association with the disease outcomes. A systematic search in PubMed, Scopus, Web of Science, ScienceDirect, and EMBASE was performed up to July 25, 2020. The pooled prevalence of the GI presentations was estimated using the random-effects model. Pairwise comparison for the outcomes was performed according to the GI manifestations' presentation and the pandemic wave of infection. Data were reported as relative risk (RR), or odds ratio and 95% confidence interval. Of 125 articles with 25,252 patients, 20.3% presented with GI manifestations. Anorexia (19.9%), dysgeusia/ageusia (15.4%), diarrhea (13.2%), nausea (10.3%), and hematemesis (9.1%) were the most common. About 26.7% had confirmed positive fecal RNA, with persistent viral shedding for an average time of 19.2 days before being negative. Patients presenting with GI symptoms on admission showed a higher risk of complications, including acute respiratory distress syndrome (RR = 8.16), acute cardiac injury (RR = 5.36), and acute kidney injury (RR = 5.52), intensive care unit (ICU) admission (RR = 2.56), and mortality (RR = 2.01). Although not reach significant levels, subgroup-analysis revealed that affected cohorts in the first wave had a higher risk of being hospitalized, ventilated, ICU admitted, and expired. This meta-analysis suggests an association between GI symptoms in COVID-19 patients and unfavorable outcomes. The analysis also showed improved overall outcomes for COVID-19 patients during the second wave compared to the first wave of the outbreak.

Background Several studies addressed the contribution of fat mass and obesity-associated (FTO) and leptin receptor (LEPR) polymorphisms for the susceptibility to obesity among different ethnic subjects. The main purpose of this work is to evaluate the association of these polymorph\isms with obesity among Egyptian subjects. Subjects and methods This case-control study was carried out on 110 unrelated obese Egyptian subjects who were compared with 122 controls. Their genomic DNA was genotyped using the PCR technique. Results The allelic frequencies of FTO rs9939609 (A) and LEPR rs1137101 (223R) were significantly higher in obese subjects compared with non-obese controls (p < .001). Comparing different phenotype frequencies including clinical, anthropometric, and biochemical parameters in obese subjects revealed no significant difference in relation to their genotype frequencies (p> .05). Conclusions This study designates a strong association for FTO and LEPR variants with the risk of obesity among Egyptian subjects.

Alitretinoin is a new oral retinoid authorized for use in grownups that have severe chronic hand eczema (CHE). A comprehensive search to solicit all studies of alitretinoin for the treatment of CHE. A comprehensive search to solicit all studies of alitretinoin for the treatment of CHE including randomized controlled trials (RCTs) or uncontrolled trials, re-treatment studies, open-label studies, or observational studies, along with case series of 10 or more participants. Physician global assessment (PGA), patient global assessment (PaGA) and modified total lesion symptom score (mTLSS) are the methods and outcomes criteria. Generated effect size and 95% confidence intervals were calculated for the outcomes. Heterogeneity and publication bias were also tested for all selected trials. When a noteworthy Q statistic (P < 0.1) demonstrates the heterogeneity crosswise over studies, an arbitrary impact model is used. On the other hand, a settled effect model is when heterogeneity is not shown. The initial search yielded 408 records of which 15 articles were selected. The 15 clinical trials included 3734 patients with CHE. Among alitretinoin-treated patients, the PGA effect size was directly proportional to the drug dosage, ranging from 40% to 69%, while the PaGA score ranged from 28.8% to 62.4%, and mTLSS ranged from 60.4% to 76.9%, much higher than placebo. A higher drug dose was about twice as effective as lower dose. The odds ratio for a better outcome with drug treatment taking duration into account was about 3-4 times that versus placebo. In conclusions, alitretinoin cleared lesions in about 50% of cases, particularly using a higher dose for a longer duration.

Background: The three founder mutations of BRCA1/2 (185delAG, 5382insC and 6174delT) have been reported to be associated with breast cancer. This work was designed to check for the frequency of these genetic mutations in Egyptian women affected with breast cancer compared to healthy first-degree relatives and unrelated controls. Subjects and methods: This work is a case control study including 43 women diagnosed with breast cancer. Their genetic data were compared to controls including 63 first degree relatives in addition to 91 healthy unrelated controls from the same locality. DNA deletion or insertion mutations were characterized in blood samples of all participants using the PCR technique. Results: The frequency of BRCA1 (185delAG) mutation in BC patients and their first-degree relatives was higher than healthy controls (2.3% and 3.2% vs. 1.1%). However, the other two mutations BRCA1 (5382insC) and BRCA2 (6174delT) showed higher frequencies among healthy controls than BC patients and their first-degree relatives (49.5% vs. 11.6% and 6.3%; 61.5% vs. 11.6% and 14.3%, respectively). Furthermore, BC patients with BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) mutations showed no significant difference compared to others regarding their clinical and laboratory markers. Conclusions: This study indicates that BRCA1 (185delAG) mutation might contribute to the incidence of breast cancer among Egyptian women, but not with BRCA1 (5382insC) and BRCA2 (6174delT) mutations. Furthermore, there was no significant association between these three founder mutations and the clinical presentation of BC among Egyptian women.

Deep vein thrombosis (DVT) is a blood clot in a major vein, usually in the legs and/or pelvis. If part of the thrombus breaks off, it becomes an embolism, which can travel through the heart and block the arteries to the lungs. Factor V Leiden (FVL) is a common genetic risk factor for hereditary hypercoagulability disorder in several populations. The present study investigates the association of FVL mutation with DVT among Egyptian cases.

Type 2 diabetes mellitus (T2DM) has multigenetic and environmental interactive factors. Although diabetic neuropathies (DPN) are the most common, but at the same time, the least recognized and understood long-term complication of diabetes. This study aimed to investigate the association of IL-4 VNTR gene polymorphism with T2DM complicated with neuropathy in Egyptian subjects. This is a case control study including 102 T2DM Egyptian patients, plus 188 unrelated healthy individuals as controls. They were evaluated for variable number tandem repeat (VNTR); 70 base pair repeats located in the intron 3; of IL-4 gene using the PCR technique. Homozygote frequency of the three-repeat allele (A1/A1) genotype of IL-4 VNTR was nearly equal among diabetic cases and controls (60.8% vs. 62.2%, respectively). Heterozygous frequency of (A1/A2) genotype was higher among controls compared to cases (33.5% vs. 19.6%, respectively) but not statistically significant. The (A2) allele had a significantly higher frequency in diabetic cases compared to controls (29.3% vs. 21.0%, respectively) while the (A1) allele had lower frequency but not significant one (70.7% vs. 79.0%, respectively). Comparing cases complicated with diabetic neuropathy vs. noncomplicated cases regarding their polymorphic IL-4 (VNTR) genotypes revealed a nonsignificant lower frequency of (A1A1) genotype (57.1% vs. 65.1%, respectively, p = .57) with a higher combined (A2A2 + A1/A2) genotype frequency (42.9% vs. 34.9%, respectively). Only two haplotypes (A1) & (A2) of IL-4 (VNTR) gene were recognized among Egyptian population; (A2) allele may influence in diabetes but not its complication (neuropathy) among Egyptian diabetic patients.

BackgroundVitamin D deficiency conferred strongest susceptibility to pathogenesis of type 1 diabetes mellitus (T1DM). Altered gene expression and function have strong effect on VDR gene polymorphism.ObjectivesWe aimed to check for the association of two single nucleotide polymorphisms (SNPs) in VDR gene (Fok‐I and Bsm‐I) with T1DM in Saudi children.Subjects and MethodsCross‐sectional study included 100 T1DM Saudi children, plus 102 unrelated healthy subjects. PCR technique was used for detection of Fok‐I and Bsm‐I SNPs in VDR gene.ResultsRegarding the Fok‐I polymorphisms, T1DM cases showed a significant increased frequency of the heterozygous genotype (Ff) than controls (33% vs 21%, OR = 1.9, 95% CI = 1.006‐3.587, P = .04). In the meantime, they showed significantly lower frequency of the homozygous (ff) genotype (64% vs 79%, OR = 0.51, 95% CI = 0.28‐0.96, P = .03). Cases showed also a significantly lower frequency of the (f) allele than controls (80.5% vs 87.7%, OR = 0.57, 95% CI = 0.33‐0.995, P = .04). On the other hand, cases showed significantly higher frequency of the Bsm‐I homozygous (bb) and heterozygous (Bb) genotypes (25% vs 11.8%, P = .01, OR = 2.5, 95% CI = 1.18‐5.31) & (45% vs 27.5%, P = .0, OR = 2.1, 95 % CI = 1.20‐3.89, respectively). Cases showed also significantly higher frequency of (b) allele compared to control (47.5% vs 25.5%, P = .0, OR = 2.6, 95% CI = 1.74‐4.02). Haplotype analysis showed an increased risk with the fB and fb haplotypes.ConclusionThis study emphasizes a positive association between SNPs (Fok‐I and Bsm‐I) and T1DM among Saudi children with increased risk with the Fok‐I F and Bsm‐I b alleles.

Background and Objective: Apolipoprotein C3 (APOC3) is a component of triglyceride-rich lipoproteins and APOC3 gene polymorphisms have been associated with non-alcoholic fatty liver disease (NAFLD), hypertriglyceridaemia and insulin-resistance.This study was undertaken to determine if the APOC3 gene variants were associated with the susceptibility of obese subjects to develop liver damage, hypertriglyceridaemia and insulin-resistance.Materials and Methods: The study was carried out on 100 unrelated obese Egyptians.These cases were compared to 83 normal weight healthy controls.All participants were subjected to an estimation of their body mass index (BMI) in addition to liver functions and lipid profile.Polymerase chain reaction Polymerase chain reaction with sequence-specific primers (SSP-PCR) was performed to detect the of APOC3 rs2854116 and rs2854117 polymorphic genotypes.Results: Cases showed a significantly higher frequency of the APOC3 T-455C, CC genotype than controls (32 vs. 9.6%, p = 0.0003, Odds ratio = 5.33, 95% CI = 2.2-12.7).In addition, the allelic frequency of the rare APOC3 -455 C allele was significantly higher among cases than controls (51 vs. 30.72%,p = 0.0001, OR = 2.35, 95% CI = 1.5-3.6).On the other hand cases showed a non-significant difference regarding all APOC3 C-482T genotypes (CT vs. CC, TT vs. CC and CT+TT vs. CC) as well as APOC3 -482 T vs. C alleles.All cases showed no significant difference of their hematologic, liver functions and lipid profile related to their genetic polymorphism.Conclusion: The polymorphism T-455C but not the C-482T in APOC3 gene was associated with NAFLD in Egyptian obese subjects.However, it did not affect their hematologic, liver and lipid profile parameters.

Background: Apolipoprotein C3 (APOC3) gene polymorphisms were reported to be associated with non-alcoholic fatty liver disease (NAFLD), hyper-triglyceridaemia, and insulin-resistance.Objective: This study was undertaken to test the association of APOC3 gene variants with liver dysfunction, abnormal lipid profile or insulin resistance in obese Egyptian subjects. Methods:The study was carried out on 100 unrelated obese Egyptians affected with NAFLD.These cases were compared to 83 normal weight healthy controls.All participants were subjected to an estimation of their body mass index (BMI) in addition to liver and renal functions and lipid profile.In addition, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed to detect APOC3 -455T>C (rs2854116) and APOC3 -482C>T (rs2854117) polymorphic genotypes.Results: Cases showed a significantly higher frequency of the APOC3 -455 CC genotype than controls (p=0.0003,OR=5.33, 95% CI=2.2-12.7).Also, the allelic frequency of the rare APOC3 -455 C allele was significantly higher among cases than controls (p=0.0001,OR=2.35, 95% CI=1.5-3.6).On the other hand, cases showed a non-significant difference from controls regarding all APOC3 -482C>T genotypes and alleles.Although all obese cases were significantly showing affection of liver function, lipid profile and blood glucose levels compared to controls, they did not differ from each other in relation to their APOC3 genetic polymorphic types. Conclusion:The polymorphism APOC3 -455T>C but not the APOC3 -482C>T in APOC3 gene was associated with NAFLD in Egyptian obese subjects.However, this polymorphism was not correlated to the degree of affection of liver function, lipid and glucose status.

Background: Genetic polymorphisms of IL-23R (rs7517847) and LEP (rs7799039) have been stated to be associated with various types of human cancers. The purpose of this work is to test the association of these genetic polymorphisms with hepatocellular carcinoma (HCC) among Egyptian patients. Subjects and methods: This study involved 150 unrelated Egyptian HCC patients in addition to 100 healthy controls from the same locality. DNA was genotyped for these genetic polymorphisms using the PCR-RFLP technique. Results: The frequency of the IL-23R (rs7517847) G and LEP (rs7799039) G alleles were significantly higher among HCC patients compared to controls (p = .004 and .02). However, HCC patients with the IL-23R GG and LEP GG genotypes showed no significant difference compared to others regarding their clinical and laboratory markers. Conclusions:IL-23R (rs7517847) and LEP (rs7799039) polymorphisms were associated with an increased risk but not affecting the clinical presentation of HCC among Egyptian patients.

To assess the association of genetic polymorphisms of NFκB1 and NFκBIA genes with the susceptibility to colorectal cancer (CRC). Subjects included 100 Egyptian patients with CRC (60 males and 40 females) in addition to 85 healthy controls (47 males and 38 females) from the same locality. For all participants, genetic polymorphisms of NFκB1-94ins/delATTG (rs28362491) and NFκBIA-881A/G (rs3138053) were detected by using restriction fragment length polymorphism polymerase chain reaction (RFLP–PCR). CRC patients showed a significantly higher frequency of the NFκB1-94ins/ins genotype than controls (30 vs. 4.7%) that was significant in the recessive (OR 17.69, 95% CI   5.41–57.82, p < 0.0001) and codominant models (OR   18.28, 95% CI   4.87–68.6, p < 0.0001). The NFκB1-94ins allele frequency was significantly higher among patients than controls (58 vs. 39%, OR  2.18, 95% CI  1.4–3.3, p = 0.0004). We also noticed that the genotype G/G of NFκBIA-881 polymorphism was present in patients (4%) while it was absent (0%) in controls with increased frequency of the NFκBIA-881G allele in patients compared to controls (23 vs. 14%, p = 0.041). These polymorphisms were more associated with smoking and advanced tumor staging. This study indicates that the NFκB1-94ins/ins genotype was associated with the risk of developing colorectal cancer in Egyptian subjects. Also, CRC cases showed an increase in the frequency of NFκBIA-881G allele but not reaching statistical significance for multiple comparisons.

Polymorphisms of genes responsible for biosynthesis and metabolism of estrogen including CYP and COMT groups might play a role in breast cancer.This study aims to investigate the association of CYP17 MspA1I, CYP1A1 MspI, CYP1B1 G>C, and COMT G>A polymorphisms with breast cancer in Egyptian women.Participants were in the form of 152 Egyptian women with cancer breast in addition to 100 healthy controls.They were subjected to DNA analysis using PCR-RFLP technique to characterize genetic polymorphisms of CYP17 MspA1I, CYP1A1 MspI, CYP1B1 G>C, and COMT G>A.Interestingly all these polymorphisms showed a positive association with cancer breast but in a variable degrees.Highest association was found with CYP1B1 C allele (p = 0.000, OR=10.26,95% CI = 5.98 -17.8) followed by COMT A allele (p = 0.000, OR=6.66, 95% CI= 4.09 -10.9) then Cyp1A1 MspI C allele (p = 0.000, OR=4.46, 95% CI=2.68 -7.47) and lastly the CYP17 MspA1 C allele (p = 0.058, OR=1.46, 95% CI =1.0 -2.1).Regarding clinical presentation, COMT A allele carriage was significantly higher among cases with positive lymph nodes (p=0.02) and in pre-menopausal cases (p= 0.020) while CYP 17 MspA1I C allele carriage was significantly higher among cases with negative breast feeding (P= 0.043).We can come to a conclusion that rare alleles of estrogen biosynthesis and metabolizing genes particularly CYP1B1 G>C, and COMT G>A followed by CYP1A1 MspI, and CYP17 MspA1I are associated with breast cancer among Egyptian women.Copy Right, IJAR,

Background: Interleukin-10 (IL-10) is a multifunctional regulatory cytokine that might be associated with increased risk of type 2 diabetes mellitus (T2DM). IL-10 gene polymorphisms have been reported to be associated with T2DM in several ethnic populations with controversial results.Objectives: This work is an updated meta-analysis aiming at the evaluation of the association between IL-10 gene polymorphisms: rs1800872 (- 592 C > A), rs1800896 (- 1082 A > G) and rs1800871 (- 819 C > T) with the risk of T2DM.Methods: All available full text studies published up to July 2015 were included in this meta-analysis. Mainly Pubmed and Science Direct databases were searched for all eligible studies pertinent to testing the association between IL-10 gene polymorphisms with the susceptibility to T2DM. Further analyses of the pooled and stratified data in terms of individual polymorphic types and subject ethnicity were done and assessed using varied genetic models.Results: Fifteen case-control studies with a total of 26 comparisons (10 for IL-10 - 592 C > A rs1800872, 11 for IL-10 - 1082 A > G rs1800896 and 5 for IL-10 - 819 C > T rs1800871 polymorphisms) met our inclusion criteria. IL-10 - 1082 A > G polymorphism was the only one to show an association with T2DM in all pooled sample particularly among Asian and European (high frequency of the G allele) ethnic groups. On the other hand, IL-10 - 592 C > A and - 819 C > T were significantly associated with T2DM only among African subjects. ConclusionsThis meta-analysis demonstrated that IL-10 - 1082 A > G polymorphism was associated with increased risk of development of T2DM in total subjects no matter was their ethnic background, while both IL-10 - 592 C > A and - 819 C > T polymorphisms were associated with that risk only among African subjects. (C) 2016 The Authors. Published by Elsevier B.V.

Background: Systemic lupus erythematosus (SLE) is associated with immunogenetic factors. This study was planned to test for the association of TNF-alpha - 308 and IFN-gamma + 874 gene polymorphisms with susceptibility and severity of SLE in Egyptian cases.Subjects and methods: This is a case controlled study including 125 Egyptian cases with SLE in addition to 112 healthy unrelated individuals from the same locality. For all participants, TNF-alpha - 308 GNA and IFN-gamma + 874 ANT genetic polymorphisms were characterized using the PCR technique.Results: Cases with SLE showed a significantly higher TNF-alpha - 308 A allele carriage rate (AA + GA genotypes) compared to controls (26.4% vs. 12.5%, p = 0.009, OR = 2.51, 95% CI = 1.26-4.99). These cases showed also a significantly higher carriage rate for the IFN-gamma + 874 T allele (AT + TT genotypes) compared to controls (47.2% vs. 32.1%, p = 0.02, OR = 1.89, 95% CI = 1.11-3.21). Comparing age, gender, and disease severity presented by nephritis class, activity and chronicity indices in cases carrying the TNF-alpha - 308 A allele and in cases carrying IFN-gamma + 874 T allele versus others showed no significant difference (p > 0.05).Conclusions: TNF-alpha - 308 A and IFN-gamma + 874 T allele carriage are associated with susceptibility but not severity of SLE in Egyptian subjects. (C) 2016 Elsevier B.V. All rights reserved.

HYPOTHESIS/INTRODUCTION:Polymorphisms of angiotensin converting enzyme (ACE) and methylene-tetrahydrofolate reductase (MTHFR) genes have been proposed to be associated with type 2 diabetes mellitus (T2DM) with conflicting results. This work was planned in order to check for the association of these polymorphisms with the susceptibility for and complications of T2DM among Egyptian cases.MATERIALS AND METHODS:This is a case controlled study involving 203 patients with T2DM and 311 healthy controls. Polymorphic variants of ACE I>D and MTHFR (677 C>T and 1298 A>C) were determined using the polymerase chain reaction (PCR) restriction analysis technique.RESULTS:The susceptibility to T2DM was higher among subjects having the MTHFR 677TT (odds ratio (OR)=2.2, p=0.01), MTHFR 1298 AA (OR=1.84, p=0.001) and ACE (ID+II) (OR=2.0, p=0.0007) genotypes. Logistic regression analysis showed that MTHFR 677T allele was a risk factor for diabetic retinopathy (DR) (OR=3.47, p<0.001), diabetic polyneuropathy (DPN) (OR=5.2, p<0.0001) and ischemic heart disease (IHD) (OR=2.9, p<0.05), while MTHFR 1298 C allele was a risk factor for DR (OR=4.2, p<0.001) and the ACE DD genotype was a risk factor for DPN (OR=3.1, p<0.001).CONCLUSIONS:The MTHFR 677 TT genotype was associated with T2DM susceptibility and complications (DR, DPN and IHD). The MTHFR 1298 CC, AC and ACE DD genotypes were associated with DR and DPN.

Background: The gene encoding cytotoxic T lymphocyte associated antigen-4 (CTL4-4) has been reported to be associated with rheumatoid arthritis (RA) in several ethnic populations. The aim of this work is to assess the association of this polymorphism with the susceptibility, activity and functional disability of RA in Egyptian subjects.Subjects and methods: This study included 112 unrelated RA Egyptian patients who were compared to 122 healthy controls from the same locality. For all subjects, DNA was genotyped for CTLA-4 +49 A>G (rs231775) polymorphism using the PCR-RFLP technique. Antibodies to cyclic citrullinated peptides (anti-CCP) were measured by enzyme-linked immunosorbent assay (ELISA).Results: The frequency of the CTIA-4 G allele was significantly higher among cases compared to controls (37.1% vs. 23.4%, OR = 1.93; 95% CI = 1.29-2.89, p = 0.002). Also, the frequency of CTLA-4 +49 Gallele carriage (AG +GG genotypes) was significantly higher among cases with RA compared to controls (61.6% vs. 41.8%, OR = 2.23,95% Cl = 132-3.77, p = 0.003). Logistic regression analysis showed that cases positive to the G allele (GA +GG genotypes) had less frequency of rheumatoid deformities and also a lower DAS28-CRP score, yet with a higher visual analogue scale (VAS) i.e. more functional disability than other cases.Conclusions: CTL9-4 +49 G allele carriage was associated with increased susceptibility and functional disability of RA in Egyptian patients. (C) 2014 Elsevier B.V. All rights reserved.

This study aimed to investigate the genetic polymorphisms of interleukin-23 receptor (IL-23R, IL23R) and endothelial nitric oxide synthetase (eNOS, NOS3) in Saudi cases with alopecia areata (AA). The trial is a case-controlled study conducted on 78 Saudi patients with AA and 93 normal healthy unrelated controls from the same locality. For all participants, characterization of IL23R R381Q (Arg381Gln) and NOS3 E298D (Glu298Asp) gene polymorphisms was carried out using the real-time PCR technique. Saudi cases with AA showed a significantly lower frequency of the protective IL23R 381Q (Gln) allele compared to controls (3.2 vs. 9.5%, P = 0.04). None of the cases (0.0%) were positive for IL23R 381QQ (Gln/Gln) homozygous genotype compared to controls (24%). Cases did not show a significant difference from the controls regarding frequencies of all NOS3 (E298D) polymorphic variants and alleles. Positive family history of AA was found in 22 (28.2%) cases, while parental consanguinity was positive in 21 (26.9%) cases. Subgroups with different clinical criteria showed nonsignificant difference regarding their genotypic variants except for males who showed a higher IL23R RR (Arg/Arg) genotype than females (100 vs. 85.3%, P = 0.01). Susceptibility to AA was associated with a lower frequency of IL23R 381Q allele, but not associated with the NOS3 E298D polymorphic variants.

BACKGROUND:Leptin is a peptide hormone secreted by the adipose tissue. Genetic mutations of the leptin gene were reported to cause severe obesity. OBJECTIVES:This study was undertaken to investigate the association of the polymorphic tetranucleotide repeat locus 3' UTR of leptin gene with obesity in Egyptian cases. SUBJECTS AND METHODS:This study has included 120 subjects affected with obesity 57 of them were consistent with the diagnosis of metabolic syndrome (MS) while the rest (63) had simple obesity. These cases were compared to 83 normal weight healthy controls. All participants were subjected to an estimation of their body mass index (BMI), waist hip ratio (WHR), serum as well as characterization of leptin gene tetranucleotide repeat (TTTC)n polymorphism by PCR technique. RESULTS:Thirteen different alleles were identified in all cases of obesity versus only 5 alleles in normal controls. The most frequent allele was the 154 bp allele (57.5% in all cases of obesity vs. 92.2% in controls). Total cases with obesity showed a significantly higher carriage rate of class II alleles (I/II + II/II genotypes) compared to healthy controls (48.3% vs. 6.0%, OR=14.6, 95% CI=5.5-38.6, p=<0.0001). This was more apparent in the group with simple obesity (52.3% vs. 6.0%, OR=17.2, 95% CI=6.1-48.1, p=<0.0001) than in MS cases (43.9 % vs. 6.0 %, OR =12.19, 95% CI=4.9-30.4, p=< 0.0001). Interestingly, cases with MS did not differ from those with simple obesity regarding their class I or II allele frequencies (p> 0.05). Although serum lipids were significantly higher in obese cases compared to controls, no difference was found among obese cases with different leptin gene class genotypes (p> 0.05). CONCLUSIONS:Tetranucleotide repeat (TTTC)n polymorphism in the 3' UTR of the human leptin gene was associated with obesity in Egyptian obese cases showing higher class II allele carriage rate. However, the lipoprotein levels were not affected by this polymorphism.

Background This work was conducted to test for the association of genetic polymorphisms of catechol-O-methyltransferase (COMT) with the susceptibility and clinical patterns of schizophrenia among Saudi patients. Participants and methods This is a case-control study involving 79 patients fulfilling the ICD-10 criteria of schizophrenia and 82 healthy controls. Patients were interviewed by different tools, which included the Diagnostic Interview for Genetic Studies (DIGS/V4.0), the Positive and Negative Symptoms Scale (PANSS), and the World Health Organization Disability Assessment Schedule (version 2.0) (WHO/DAS II). All patients and controls were screened for COMT G >A gene polymorphisms using the real-time PCR technique. Results Frequencies of all genetic variants of COMT G >A [V158M] did not show a significant difference on comparing cases with controls (P > 0.05). Comparing the frequencies of genetic variants in cases having positive parental consanguinity and a family history of schizophrenia or other mental illnesses with those without a history also showed nonsignificant results (P > 0.05). A stratified analysis related to severity scores and associated clinical illnesses also showed a nonsignificant difference (P > 0.05). Conclusion Polymorphism related to COMT G >A was not associated with the susceptibility and the severity of schizophrenia among Saudi cases.