ظافر عبد المهدي فيصل الكوفي

Type 2 diabetes mellitus (T2DM) is the most common type of diabetes. It is caused by inefficient insulin use, as well as the progressive loss of pancreatic β cells function. T2DM is the most common type of diabetes in the world. It is the major cause of death in adults and children, mainly of heart disease. The non-synonymous polymorphism rs1990760 is located in the HNF-3b binding site within exon 15 of the IFIH1 coding region. At codon 946, it encodes a change from alanine to threonine (Ala 946 Thr). Methods On 100 patients and 100 controls, a case-control study was conducted. After extraction of genomic DNA, the SNP rs 1,990,760 analysis was performed using Taq-man real time PCR (RT-PCR). Fasting blood sugar, insulin level, HOMA-IR and lipid profile were determined. Anthropometric parameters such as height, weight and BMI were calculated. T2DM risk was determined as an odds ratio. Results TT, CT genotype carriers were less likely to develop T2DM [OR = 0.38, CI 95% = 0.17–0.82, P = 0.01] and [OR = 0.40, CI 95% = 0.16–5.99, P = 0.04] respectively. High density lipoprotein (HDL) is shown significant differences in codominant model among genotypes in the patient's group. Conclusion Interferon-induced helicase (IFIH1) gene polymorphism rs1990760 is involved in reduced risk of T2DM. In addition this SNP may play a role in the development of cardiovascular diseases by affecting HDL levels.

Background: Cardiovascular diseases or CVDs is a term used to describe many diseases that affect the heart and blood vessels and are the cause of about 31% of deaths worldwide. About 17.9 million suffered death due to CVDs in 2019. Cytotoxic T Lymphocyte antigen 4 (CTLA-4) also known as CD152 is a receptor expressed by both CD4 + and CD8 + T cells. The current study aims to identify the effect of CTLA-4 gene Polymorphism in the position +49 A>G and CTLA-4 protein concentration as a risk factor in developing CVDs in the Iraqi population. Materials and methods: Sixty-nine CVD patients (33 female, 36 male), mean age was (± standard deviation) 52.18 (± 7.9) and 57 healthy subjects (33 female, 24 male) mean age was (± SD)49.5 (± 6.4) were included in the study. DNA was extracted from the blood then genotyping of SNPs (rs231775) was carried out in Real time-PCR by using special primers and probes. The serum CTLA-4 concentration was elevated using sandwich ELISA. RESULTS: the frequency of AA, AG and GG genotypes in the CVD group was 19 (4.3%), 11 (59.4%), and 3 (36.9%), respectively. While the frequency in the control group, was 58 (8.7%), 39 (87.7%), and 8 (3.6%), respectively. As for the frequency of A and G alleles, it was 44(34.06%) and 76 (65.94%) respectively in the CVD group and 55 (52.63%) and 52(47.37%) respectively in the control group. The p-value was significantly different between the CVD and control groups (P = 0.0073). Genotype and allele frequencies of CTLA-4 gene(rs231775) polymorphism were found to be non-consistent with Hardy-Weinberg equilibrium, were examined under the co-dominant, dominant, over dominant and recessive models with the use of multinomial Abstract logistic regression analysis, the result CTLA-4 A>G rs231775 gene polymorphism in CVD group when compared with the healthy control group, show the risk of CVDs was significantly higher among carriers of GG variant under co-dominant GG(OR=20.8 95%CI)=((2.735-158.72), P= 0.003), dominant AG+GG(OR=2.44, 95%CI)=(0.558-10.64, P= 0.2), and recessive model(OR=15.63, 95%CI)=(3.51-69.598, P= 0.0003). results showed no difference in serum CTLA-4 concentration between the CVD group (1.38 ±1.03) ng/ml and the control group (1.24±0.9).

Primer-Introduced Restriction Analysis Polymerase Chain Reaction (PIRA-PCR) is good simple useful technique for detection mutation point via makes or terminates artificial restriction fragment length polymorphism polymerase chain reaction (RFLP-PCR) that different restriction position for any identified enzyme in the area of the mutation point in any type of the genomes; human, animal, or plant.The method depending on using this software:http://primer1.soton.ac.uk/primer2.html which is available freely. The designing primer pairs completed by using it, with sieves for the appropriate mismatches. This way is essential to format a simulated restriction enzyme that recognition locations at great sensitivity and accuracy of assessment reach 0.2 ng/ml and 3% respectively of mutant and wild type alleles. This paper gives a simple clarification to use a web-based computer tool to improve the researchers' skills to get the .best results in the PCR-world techniques

The second leading cause of mortality throughout the world is colorectal cancer (CRC), and the existing treating of this situation needs to be improved. Many efforts had been focused on the therapeutic approach of cancer for a long time studying nanoparticles activity. In this study, zinc oxide nanoparticles (ZnO-NPs) were applied against the HCT116 colorectal carcinoma cell line. Methods of current work were included in vitro ZnO-NPs cytotoxicity by thiazolyl blue tetrazolium bromide (MTT) cytotoxicity test on the HCT116 cells in comparison with standard chemotherapeutic drugs that were included Doxorubicin (DOX), cyclophosphamide (CPH) and 5-fluorouracil (5-FU), furthermore, the assessment of Forehead box M1 gene (FOXM1) expression was evaluated using Livak method based on Real-time PCR technique. Results showed that ZnO‐NPs were effectively and significantly inhibited the cell proliferation (p<0.0005) by decreasing the viability of the HCT116 cells at different concentrations involved 1, 10, 100, 500 and 1000 μg/ml, with 27.327 μg/ml half-maximal inhibitory concentration (IC50). DOX, CPH, 5-FU IC50 values were 51.112, 30.897μg/ml and 39.72 μg/ml respectively. While FOXM expression in HCT116 cell line revealed a significant effect of down regulation after treatment with different concentrations of ZnO-NPs when compared with untreated cells; (highest relative expression equal to 1.45555E-06) as compared with untreated cells (relative expression =2.462288827). Our finding that ZnO-NPs nanoparticles have an anticancer effect against HCT116 colorectal carcinoma with FOXM1down regulation

Many genetic researches now relies on the study of variants in genetic material through different, diverse of universal Polymerase Chain Reaction (PCR) methods. In that context, we are putting a highlighted on the most important fundamental aspects of PCR technology, which help researchers to clarify and reduce the majority problems and difficulties may face them in the laboratory work of any kind of PCR technology in general.

gressively increasing morbidity and mortality across the globe. Cytotoxic T lymphocyte antigen-4 (CTLA-4) encoded by the CTLA-4 gene on chromosome 2q33 has an important role in homeostasis and negative regulation of immune responses. Therefore, CTLA-4 gene polymorphisms are considered to be a key element in the development of T1DM. Aim of the study: The study aimed to elucidate the contribution of cytotoxic T-lymphocyte antigen-4 (+49 A/G) polymorphism of CTLA-4 gene to the susceptibility T1DM. Methods: A present case-control study was designed to include 120 Iraqi children with T1DM and 120 healthy children as a control group. The patients were diagnosed previously with T1DM by Al-Imam Al-Hassan center for endocrine and diabetes in Al-Imam Al-Hussein medical city in holy Kerbala province. Genotyping CTLA-4 (+49A/G) gene was performed using tetra-primer amplification refractory mutation system-polymerase chain reaction technique (T-ARMS-PCR). Results: Risk factors of T1DM (Family history of diabetes mellitus, age at onset, gender) were found to be an independent risk factor for T1DM P value>0.05. The AG genotype significantly raised the risk of T1DM by more than six folds (OR=6.7, 95% CI; 3.63–12.29, P < 0.05). While the G allele significantly raised the risk of T1DM by more than two folds (OR=2.8, 95% CI; 1.88–4.15, P < 0.05). In addition to the GG genotype also was significantly (OR=7.76, CI 95%=2.16–27.88, P < 0.05) changed among the two groups. Conclusion: Our case-control study suggests that the CTLA-4 (+49A/G) gene polymorphism is associated with T1DM in the Kerbala children.

Globally more than 100 million SNPs in populations. These variations approximately 4–5 million SNPs in a people genome, occur almost every 1000 nucleotides on average and present either unique or in many in individuals. They can act as genetic signs, associated with illness and respond to chemicals and drugs. SNPs occurrence within or near a gene play important role in disease throughout affecting gene task. Frequently many protocols have been used to study single nucleotide polymorphism (SNP) among human variants genome. Restriction fragment length polymorphism (RFLP), Amplification refractory mutation system PCR(ARMS-PCR), sequencing and SNaPshot assays considered familial methods. The potential risk of contamination after PCR is common due to further other steps. In this direction, a high resolution melting (HRM) real-time PCR method is an alternative, reducing the post-PCR transferring steps. uVariants is clarified as appropriate website for designing primers used for SNP recognition by easy and inexpensive protocol called HRM. The researchers can focus on the interest of reference SNP ID number, or “rs” ID to avoid loss time. In this article description how to uses uVariants website for primer design used in HRM technique. Aims: To describe uVariants and uDesign software, application and usefulness of HRM technique primer design in the genotyping SNPs among people and public health. Accessibility and requirements: uVariants and uDesign are freely accessible at: https://www.dna.utah.edu/ variants/;https://www.dna.utah.edu/udesign/app.php respectively. The network server supports the browsers: Chrome, Firefox, Torch, CoolNovo, 360 Browser, Internet Explorer, Opera, and Safari.

Background Type 1 diabetes mellitus (T1DM) is an autoimmune disease, arising through a complex interaction of both genetic and immunologic factors. There is an association between human leukocyte antigen (HLA) complex and T1DM in various populations. The allele of HLA-DQA1 gene polymorphism associated with T1DM is HLA-DQA1*0501. The blood glycated hemoglobin (HbA1c) level provides the average blood glucose levels during two to three months, which is the predicted half-life of red blood cells (RBCs). Objective To investigate the molecular basis of the association of HLA- DQA1*0501 allele with HbA1c levels in children with T1DM, in the Kerbala province of Iraq. Materials and methods This is a case-control study conducted on 125 T1DM patients, including 66 males (52.8%) and 59 females (47.2%), with the mean age of 10.92 ± 3.78 years and 100 healthy controls, including 57 males (57%) and 43 females (43%), with the mean age of 8.4 ± 3.53 years, randomly recruited from the Kerbala province of Iraq. Genotyping of HLA was performed on genomic DNA, using polymerase chain reaction sequence-specific primers (PCR-SSP). Results The frequency of HLA-DQA1*0501 allele in T1DM patients was 71.2%, and in apparently healthy control was 29%. The association between HbA1c level and HLA-DQA1*0501 allele was significant (P value ≤.01). Conclusion The HLA-DQA1*0501 allele was highly associated with the risk of T1DM pathogenesis. A high significant correlation between the blood HbA1c level and HLA- DQA1*0501 allele was found.

Abstract From 1990 to 2003 is the period needed to finish the human genome project. The ideas were and still introduce growing cheap, reliable and fast advance techniques for dealing with analysis of huge information of the human genome. Whereas that technique is contagious with a suitable analysis to differentiate between variants, linked to malady tendency and how drug responses. Single nucleotide polymorphism (SNP) considered the most common type of genetic variation between people. It is associated with various of diseases and sometime plays a role of prophylactic against a certain disease. Primer pairs considered the mainly implement player in polymerase chain reaction. So, they needed to design an efficient and good quality primer by many programs and applications still demanded. Many studies related to SNPs associated disease and mutations were depended on sensitive and inexpensive price method such as allele-specific (AS) polymerase chain reaction and single base extension.

It is amazing to know that around 99.9% of the individuals genome among persons is alike, and only 0.1% of it differs in chromosome. This variance is accountable for the diversity in phenotypes and receptiveness of them to environmental effects. DNA variants are happening in numerous formulas. Mutations might be definite as order variants which happen in less than 1% of the populace, whereas the extra prevalent variant is identified as polymorphisms. More than 1% of the greatest public hereditary variants are known as single nucleotide polymorphisms (SNPs). In human genome, SNPs considered as plentiful figure of genetic variation, and their importance in contribution to many disease, drug efficacy, and side effects in addition to may represent a prophylaxis. SNPs represent a specific location at which more than one nucleotide is established and only two alleles at a SNP locus. More than 100 million SNPs have been recognized in human, in average each 300 nucleotide on usual. The gene which has more than one allele is a normal result of SNP. SNPs are not restricted to coding sequence, but may be associated with noncoding region. Many techniques are used to analyze SNPs and involve two phases, one for allele recognition and another for detection.

Summary: One of the most essential roles in polymerase chain reaction (PCR) primer design is a gene structure, predominantly for eukaryotic cells genes with numeral single-nucleotide polymorphisms (SNPs) which impose on users the discrimination between them via many techniques involving PCR. At this point, PRIMER1 is illustrated as suitable network server used for primer design to detect SNP by a simple and economical method named tetra-primer amplification refractory mutation system-polymerase chain (ARMS-PCR). In PRIMER1, the users are able to concentrate their attention on the dbSNP NCBI and primer design delineation without wasting time identifying the positions of SNPs manually configuring difficult limitation. Accessibility: PRIMER1 is freely accessible at: http://primer1.soton.ac.uk/primer1.html. The network server supports the browsers: Firefox, Chrome, Safari, Opera, and Torch.

Background The B-cell lymphoma 2 (BCL-2) gene is considered to be related with leukemia improvement. The single nucleotide polymorphism "(SNP; -938 C>A)" of BCL-2 was discovered a few years ago. In accordance with the SNP’s (rs2279115) function against leukemia, we evaluated the distribution frequency of the allele in addition to the relationship of the genotype with clinicopathological features. Materials and Methods This study involved a case-control design in which the BCL-2 gene promoter polymorphism with the rs2279115 variant was genotyped in a total of 230 individuals, including 120 leukemia patients and 110 healthy subjects, to predict the variation in leukemic Iraqi patients. The patient group was enrolled from the Medical Euphrates Center for Oncology in the Najaf province that is involved in the WHO strategy of leukemia. From whole categories of blood, the DNA was extracted and genotyped using the BccI enzyme and the RFLP- PCR technique. Results The occurrences of the CC, AC, and AA alleles of the promoter BCL-2 gene polymorphism (C-938A) in leukemia patients were 38 (32%), 55 (46%), and 27 (22.5%), respectively, while control they were 46 (42%), 54 (49.1%), and 10 (9.1%), respectively in the control group (P<0.01). It was shown that the existence of the A allele in the SNP (rs2279115) in the BCL-2 gene promoter was related to an increased risk for the development of leukemia in the Iraqi population. The minor allele (A) in (rs2279115) of BCL-2 gene was significantly elevated (p<0.01) in leukemia patients (22.5%) as compared with healthy individuals (9.1%). Accordingly, the homozygous genotype AA (OR=3.27, CI 95% 1.41-7.60, P= 0.01) significantly augmented the risk of leukemia development by more than three times when compared with those of reference wild-type AA. Conclusions The results of this study indicated that the AA genotype of BCL-2 (-938C>A) was associated with a predisposition to leukemia in the Iraqi population. Keywords: Leukemia, BCL-2, SNP, Cancer, Iraq

Background:Type 1 diabetes mellitus (T1DM) is an insulin-dependent form of diabetes, Cytotoxic T lymphocyte antigen-4 (CTLA-4)is a member of the immunoglobulin superfamily that is expressed by activated T cells and transmits an inhibitory signal to T cells.CTLA-4 coded byCTLA-4 gene on chromosome 2q33. Polymorphisms of CTLA-4 gene belong to the main genetic factors determining the susceptibility to T1DM. Methods: A case-control study was designed to include 120 Iraqi children with T1DM and 120 healthy children controls. The patients were diagnosed previously with T1DM by Al- Imam Al-Hassan center for endocrine and diabetes in Al-Imam Al-Hussein medical city in holy Kerbala province.Genotyping was performed using the Tetra-primer amplification refractory mutation system polymerase chain reaction technique (T-ARMS- PCR).The biochemical tests was HbA1ctest has been performed at central laboratory of Al-Imam Al-Hussein medical educational city. While the DNA extraction and PCR done at the research laboratory of the biochemistry department of the medical college of Kerbala university.Results: Risk factors of T1DM (Family history of diabetes mellitus, age at onset, gender) were found to be an independent risk factor for T1DM.The -318 C/T(rs5742909) polymorphism of CTLA-4 has anon-significantdifferences are revealedfor genotype and allele frequencies between T1DM patientsand the control group. By calculating the odds ratios, is less than (1), it issuggest that a person carrying T allele and C/T genotyping, decreased insusceptibility to be with T1DM. It is evident in the current study that the Tallele of the CTLA-4 -318 C/T was not associated with the occurrence ofT1DM and could not be considered as a risk factor for the development of thedisease.Conclusion: Our case-control study suggests that the CTLA-4(-318C/T) gene polymorphism is not associated with T1DM in the Kerbala children.

Breast cancer is a malignant tumor arising from the terminal duct lobular unit of the breast tissues. It is most prevalent malignancy in women and its incidence is increasing globally and the lifetime risk of developing breast cancer between 5-10%. Tumor suppressor geneTP53 is essential for preventing inappropriate cell proliferation and maintaining genome stability and integrity following genotoxic stress. TP53 gene is the most commonly mutated gene in cancer and approximately 20% of breast cancer. Thus, gene expression was investigated.

Background: Breast cancer is a malignant tumor arising from the terminal duct lobular unit of the breast tissues. It is most prevalent malignancy in women and its incidence is increasing, approximately equals to 5-10%. Forkhead box M1 (FOXM1) is a transcription factor associates with proliferation signals and over-expressed in majority of human cancer involved breast. TP53 gene negatively regulates FOXM1 expression and therefore inactivation of TP53 in tumors could partially illustrate the phenomenon of FOXM1 over-expression in human cancers. Objectives: The main objective of the current study is to analyze FOXM1 and TP53 gene expressions levels in formalin fixed paraffin embedded tissues of breast cancer specimens. Subjects and Methods: One hundred formalin fixed paraffin embedded (FFPE) tissue samples of malignant breast tumors as well as 100 FFPE samples of normal breast tissues were investigated. Ages of patients (Mean ± SD) were 48.4 ± 10.90 year with a minimum to maximum of 20 -75 years. Total mRNA was extracted from FFPE blocks by using a specific kit. FOXM1 and TP53 gene expressions were estimated quantitatively by real-time PCR. Results were normalized to 18S rRNA gene as housekeeping gene. The gene expression data were analyzed in relevance to the patients information obtained. Several statistical analyses were applied to analyze the data. Results: Analysis of the data of the ages revealed 29 (29%) patients of ≤40 years and 71 (71%) of >40 years. Ninety one cases (91%) out of 100 were found to be invasive ductal carcinomas, 7 cases (7%) out of 100 were invasive lobular carcinoma, and 2 cases (2%) out of 100 were rare type of breast cancer. Tumor size assessment indicated 10 (10%), 51 (51%), 26 (26%), and 13 (13%) cases to be of T1, T2, T3, and T4 respectively. Lymph node involvement was positive in 77 (77%) and negative in 23 (23%) cases. Fifty three (53%) cases were of right sided and 47 (47%) cases were of left sided. Estrogen receptors were found to be positive in 44 cases (44%), negative in 53 cases (53%) and unknown in 3 cases. Progesterone receptors were observed to be positive in 50 cases (50%), negative in 47 cases (47%) and undefined in 3 cases (3%). Her2 was exhibited to be positive in 16 (16%) cases, negative in 76 (76%) cases, and unknown in 8 cases (8%). The concentration (Mean ± S.D) of extracted total RNA from FFPE samples was found to be 55.5±13.61 µg/ml with a purity of 1.93±0.04. Extracted RNAs were converted to cDNA and amplified with the use of two levels (5 and 10 pmole) of the designed primers. Both levels were observed to amplify the cDNA successfully. The specificity of the designed primer was confirmed by monitoring the melting curve of the amplified DNA. FOXM1 and TP53 cDNAs were amplified successfully with 99% and 78% PCR efficiency respectively. The expression folds of FOXM1 and TP53 genes were found to be 15 and 44 folds in malignant breast tumors respectively. High expression folds of FOXM1 and TP53 genes were evident in tumor of patients with ages ≤40 and >40 years respectively. FOXM1 and TP53 genes were observed to be expressed excessively in ductal carcinoma tumors, advanced stage tumors, estrogen and progesterone receptors negative tumors, and those positive for Her2.

استهدفت الدراسة الحالية تقييم تأثير الإصابة بداء المقوسات على بعض المؤشرات الحيوية للإجهاد التأكسدي حيث شملت أوكسيد النتريك ) NO ( و المالون ثنائي الالديهايد ) MDA ( والكلوتاثيون المختزل ( GSH ( في مصل النساء الموجبات مصلياً لفحص الامدصاص المناعي المرتبط بالإنزيم لجسم الضد IgG . وأظهرت النتائج إن النسبة المئوية للإصابة بلغت %58.71 من أصل 333 عينة دم من نساء متزوجات وغير متزوجات باستعمال فحص ELISA-IgG كما أشارت النتائج الإحصائية إلى إن الإصابة بداء المقوسات قد أدت إلى حصول ارتفاع معنوي في مستوى أوكسيد النتريك و المالون ثنائي الالديهايد في حين كان هناك انخفاض معنوي في تراكيز الكلوتاثيون المختزل في مصل النساء الموجبات مصلياً مقارنة مع مجموعة السيطرة .

The critical micelle concentration (CMC) for polyoxyethylene sorbitan fatty acid esters (tween) series surfactant was determined by the fluorescence intensity technique. It has been measured against concentration of micelle at temperature range (298-348) °k . at 298°k the CMC for tween (20, 21, 40, 60 and 80) were (0.0499, 0.063, 0.0333, 0.0167 and 0.015) mM respectively. The critical micelle concentration (CMC) for all tween series decreased with increasing carbon atoms number for alkyl group, but increased with increasing the number of oxyethylene group. The CMC for all tween series decreased with increasing temperature, it slightly increased at higher temperature. Thermodynamic parameters (ΔG°m, ΔH°m , ΔS°m) of the micelle formation were calculated from the temperature dependence on the CMC, ΔG°m decreased when increasing temperature above the whole temperature range . It is found that (ΔG°m, ΔH°m, ΔS°m ) decreased with increasing carbon number for alkyl group, but increased with increasing the number of oxyethylene group.

The study was conducted to investigate the difference in the serum malondialdehyde (MDA), glutathione (GSH), and peroxy nitrate (PN) levels between type 2 (T2DM) diabetes patients and normal subjects. MDA, GSH, and PN levels in sera of 100 patients and 80 participants in the control group were evaluated. A statistically significant difference was found between patients and the control group in terms of MDA, GSH, and PN levels. A decrease in GSH activity was detected (P<0.0001), while MDA and PN levels increased significantly (P<0.0001). The high levels of patients versus control ratio of MDA and PN levels probably suggests the occurrence as a mechanism of tissue damage in cases of T2DM. Moreover, it is recommended that the patient levels of MDA, GSH, and PN should be evaluated in insulin resistance patients.

Triplicate samples were collected in 250 ml sterile glass bottles from 13 wet stations in shoreline of Al-Hawizeh Marsh, during June, ِAug, Dec (2008), and March (2009) for investigated the total count of bacteria (TC), most probability number of Coliform bacteria (MPN), and some water parameters includes: electrical conductivity (EC), salinity (Sal), dissolved oxygen (DO), and pH were determined. The results shown that the TC of bacteria were significant elevation in station 13 (5.167 × 103 CFU/ ml during Dec to 13.9× 103 CFU/ ml during March), when compared with station 10 (0.031 × 103 CFU/ ml during Dec. to 0.327 × 103 CFU/ ml during Jun). However, E coli elucidate significantly in stations 5, 7, and 13 when compared with stations 3, 9, and 10 (varied between 1.7 × 103 CFU/100 ml in station 13, to 0.008 × 103 CFU/100 ml in station 10). The significant differences between all sites for all months was clarified by the analysis of variance (ANOVA). The correlation between TC and MPN of bacteria with dissolved oxygen and pH were negative significant , with salinity and electrical conductivity were positive significant in level 0.01.

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Background Recently, the polymorphisms of the vitamin D receptor gene has been linked to several autoimmune diseases. The main goal of this study is to explore the association between VDR gene polymorphisms (rs731236, rs2228570, rs1544410, rs7975232) and the risk of Hashimoto's thyroiditis (HT) among the Iraqi population. Methods Peripheral blood samples were used to isolate genomic DNAs from 180 HT patients and 200 healthy controls. Four VDR gene loci were amplified, and the obtained amplicons were then digested using the restriction enzymes FokI, BsmI, TaqI and ApaI. The digested fragments were then electrophoresed on agarose gel (2.5%). HT polymorphisms and estimated haplotypes were computed by odds ratios (ORs). Results After stratification by age, gender and body mass index (BMI), univariate logistic regression statistical analysis showed that there was a significantly higher incidence of FokI (rs2228570) polymorphisms in HT patients compared to healthy controls. As compared to the HT patient group, healthy individuals had a significantly higher incidence of TaqI (rs731236) and BsmI (rs1544410) polymorphisms. Linkage disequilibrium (LD) analysis of pairs of SNPs revealed that the polymorphisms in the VDR gene (rs731236 A/G and rs7975232 G/C) were in strong LD in an HT model (D′ = 0.86). Furthermore, AAGC and AAGT haplotype models (OR = 1.5, 95% CI: 1.1–2.1; OR = 1.61, 95% CI: 1.06–2.45, P = 0.02) were associated with an increased risk of HT, while the AACC haplotype model (OR = 0.37, 95% CI: 0.15 – –0.90, P= 0.02) exhibited a significantly decreased the risk of developing HT. Conclusion Our research supports the association between HT and the FokI polymorphism among the Iraqi population. Additionally, the haplotype analysis demonstrates that these individuals with positive FokI polymorphism are more susceptible to HT due to a combination of mutant alleles derived from different VDR gene variants.

Aim The objective of this study was to explore how the existence of two particular SNPs located in potential binding sites for microRNAs in the 3′- UTR region of the NOD2 gene could impact the susceptibility to rheumatoid arthritis (RA) among the Iraqi population. Background Rheumatoid arthritis (RA) is a chronic autoimmune condition that predominantly affects the joints. In RA, the immune system erroneously attacks the tissue surrounding the joints, resulting in stiffness, inflammation, pain, and mobility restrictions, particularly in areas such as the wrists, spine, knees, ankles, and feet. While numerous genes in the human genome play a part in the development of RA, specific genetic regions within these genes may have a noteworthy influence on both the initiation and progression of RA and this influence may extend to other inflammatory conditions as well. Method In a case-control study, genomic DNA (gDNA) was isolated from the peripheral blood of 200 individuals. These participants were categorized into two groups: one comprising 100 individuals diagnosed with rheumatoid arthritis, and the other composed of 100 healthy individuals who served as the control group. Various laboratory parameters and anthropometric data, such as age, gender, body mass index (BMI), levels of anti-cyclic citrullinated peptide (anti-CCP), and rheumatoid factor (RF), were assessed. Subsequently, all samples were genotyped for two specific polymorphisms located within the NOD2 gene (rs3135499 and rs3135500) using rhAmp-polymerase chain reaction technology. Finally, the collected data underwent analysis using a range of statistical methods. Results The results indicated a substantial correlation between the risk of developing rheumatoid arthritis (RA) and the allele frequencies of the rs3135500G > A polymorphism, specifically [G vs A; Odds Ratio (OR) = 1.76; 95% Confidence Interval (CI) (1.8 – –2.6); p < 0.005], as well as the genotypes [GG vs GA + AA; OR = 2.4; 95% CI (1.15–2.2), p < 0.001], [GA vs GG; OR = 0.1; 95% CI (0.33–0.4), p < 0.001], and [AA vs GG; OR = 0.08; 95% CI (0.02–0.37), p < 0.001]. Conversely, the rs3135499 A > C polymorphism did not exhibit significant variations, except for [CC vs AA+AC; OR = 2.7; 95% CI (1.3–5.73), p < 0.009], and [AC vs AA; OR = 2.95; 95% CI (0.87–10.02), p < 0.03] after adjusting for factors like gender, age, BMI, smoking status, and family history. It's worth noting that markers such as anti-CCP, RF, and CRP produced positive results exclusively among RA patients. Additionally, parameters like BMI, ESR, WBCs, and Urea exhibited significant differences between the RA group and the healthy control group (p < 0.02, p < 0.0001, p < 0.002, and p < 0.01, respectively). Furthermore, there was a strong linkage observed between the rs3135500G > A and rs3135499A > C polymorphism of the NOD2 gene in patients (D′ = 0.85). Conclusion Our findings indicate an association between rheumatoid arthritis (RA) and the rs3135500 G/A polymorphism situated in the 3′-UTR of the NOD2 gene, particularly in the presence of the A allele. Additionally, the AA haplotype model was associated with an increased susceptibility to RA within the genetic region of NOD2.