Introduction: Systemic lupus erythematosus (SLE) is a polygenic, multifactorial, autoimmune, inflammatory disease with complex genetic inheritance that affecting almost all organs and systems of host body. Polymorphic variations such as HLA-DR, IRF5, STAT4, BLK genes have received attention as potential markers of susceptibility and severity in SLE. According to studies, STAT4 gene is a susceptible gene that can participate in development of SLE, in different populations. STAT4 gene G/C (rs7582694) polymorphism is a one of the single nucleotide polymorphisms that showed susceptibility to SLE in many of populations. In this study the prevalence of this single nucleotide polymorphism (SNP) in patients and control group in the population of Lorestan province was investigated. The aim of this study was to investigate association of this polymorphism in Lorestan patients with SLE.

Methodes: The study included 122 persons with SLE and 127 healthy controls, that genomic DNA of them was isolated and genotyped by using PCR-RFLP and tetra-primer ARMS-PCR methods for the STAT4 gene G/C (rs7582694) polymorphism.

Results and Discussion: According to our results the frequency of minor allele C from this SNP was significantly higher in SLE patients than controls and showed a significant association (P=0.012) with susceptibility to SLE. The rs7582694 CC genotype also showed a significant association (P=0.042) with the risk of SLE in the population of Lorestan province. Also, the serological factors (ANA and Anti-dsDNA antibodies), separately examined to genotype frequencies, and not found association between these factors and rs7582694 genotypes. Our findings suggested that there is an association of STAT4 gene G/C (rs7582694) polymorphism with increasing risk of SLE development.
 

 Background: Systemic Lupus Erythematosus (SLE) is an chronic autoimmune, systemic disease with high amount of different antinuclaer autoantibody that involves several tissue and organs include skin, kidney, heart, brain and joints. many key factors effect pathogenes SLE, for example disorder in B and T lymphocyte motly found in SLE patiants. The protein tyrosine phosphatase non-receptor 22 (PTPN22) gene encodes the lymphoid protein tyrosine phosphatase(Lyp), that is a negative regulator of Tcell. Recent studies have demonstrated the association between the rs2476601 and rs2488457 polymorphisms of PTPN22 gene and different autoimmune diseases including SLE. In This reaserch study examines the association between the rs2476601 and rs2488457 polymorphisms of PTPN22 gene and Systemic lupus erythematosus in a region, covering the South west of Iran 
Methods: We studied 120 patients with SLE and 120 healthy volunteers as a control group. Genomic DNA was extracted and the genotyping was performed based on restriction fragment length polymorphism method (PCR-RFLP
Results and Conclusions: The results show there is an association between rs2476601 polymorphism and the increase of the risk of SLE disease in the studied population, while in rs2488457 polymorphism the association cannot be seen. The frequency of allels in patients compared to the control group are 1858T (P<0.001, OR=0.44, CI 95% = 0.291- 0.663) and                                                      1123C ( P = 0.307, OR = 0.811, CI 95% = 0.543-1.212). Furthermore, the results of clinical and stratistical data show that in both polymorphisms, there is no associations between ANA and Anti-dsDNA factors and incidence of the disease.

Introduction: Rheumatoid arthritis (RA) is a chronic, systemic and inflammatory disease and it's characterized by progressive damage of the synovial joints and various joint's outer demonstrations. Both genetic and environmental factors are involved in its onset. The MTHFR gene encodes the methylene tetrahydrofolate reductase enzyme and the MTR gene encodes the methionine synthase enzyme. These enzymes from the folate cycle play key roles in the metabolism of methionine and homocysteine. Aberrant methylation and increase in homocysteine levels has been observed in rheumatoid arthritis patients. rs1801131 and rs1805087 polymorphisms have been associated with rheumatoid arthritis in several populations. The aim of this study was to investigate the association of rs1801131 polymorphism of the MTHFR gene and rs1805087 polymorphism of the MTR gene with rheumatoid arthritis in Khuzestan province.

Methods: The study included 100 patients with RA and 120 healthy controls. Their genomic DNA were extracted and their genotypes were determined based on polymorphisms rs1801131 via T- ARMS PCR and rs1805087 by PCR-RFLP method . The data, were analyzed by SPSS software 24.0.

Results and Conclusion:there were no significant difference in allele frequencies of rs1801131 and rs1805087 polymorphisms between RA patients and controls (P=0.256, OR=0.794, CI95%= 0.534-1.182 and P=0.072,OR=0.651, CI95%= 0.407-1.039). Compared genotypes of rs1805087 polymorphism show only AG genotype, statistically significant difference between Patients and control women (p=0.016). Our findings demonstrate A allele of rs1805087 polymorphism might be a risk factor for RA in women population. In contras, the results indicating no association of the rs1801131 polymorphism with RA susceptibility. Additionally, no significant association was observed between genotypes, other parameters (gender, age, ethnicity and laboratory factors) and RA risk. reliable results can be obtained with the evaluation of these polymorphisms in a larger sample size.
 

 Introduction: Rheumatoid arthritis (RA) is a chronic, systemic and inflammatory disease.This disease affects 1% of the world's population. The STAT4 gene encodes a transcription factor and is an important regulator of innate and adaptive immunity. The rs7574865 Single-nucleotide polymorphism, in the intron 3 of the STAT4 gene has been associated with susceptibility to RA in many populations. The aim of this study was association between STAT4 rs7574865 polymorphism with RA in Khuzestan province.
Methodes: The study included 240 persons (120 patients with RA and 120 healthy controls). Genomic DNA was isolated and genotyped by using PCR-RFLP assay for the STAT4 rs7574865 polymorphism.
Results and Conclusions: Our results show that there was no statistically significant difference between the groups with respect to STAT4 rs7574865genotype (p=0.916) and allele frequencies (0.921). Also we not found statistically significant association between race of the persons and the risk of RA (p=0.555). Furthermore, A subgroup analysis according to the presence or absence of rheumatoid factor (RF) and anti-cyclic citrullinated peptide (anti-CCP) antibodies revealed that there was no association between rs7574865 genotypes and anti-CCP ,But there was significant association between rs7574865 genotypes and RF in this population (p=0.01). Our findings suggest that there is no association between STAT4 rs7574865 polymorphism with susceptibility RA in Khuzestan province.

Abstract

Introduction: Rheumatoid arthritis (RA) is a chronic, systemic and inflammatory disease characterized by progressive joint destruction and autoantibody formation such as antibody anti-cyclic citrullinated peptide (Anti-CCP) and rheumatoid factor (RF). Signal transducer and activator of transcription 4 (STAT4) gene encode a transcriptional factor that transmits signals induced by several key cytokines which play important roles in the development of autoimmune diseases. Recently, several single nucleotide polymorphisms (SNPs) in STAT4 gene have been reported to be significantly associated with Rheumatoid arthritis (RA) in different ethnic populations. The aim of this study is to investigate the polymorphism STAT4 rs10181656 with RA in Khuzestan Province.

Methodes: The study include 240 persons (120 patients with RA and 120 healthy controls). Genomic DNA was isolated and genotyped by using PCR-RFLP assay for the STAT4 gene rs10181656 polymorphism.

Results and Conclusions: Our results show that there is a statistically significant association between STAT4 rs10181656 polymorphism and rheumatoid arthritis (p=0.007). We didn’t find any statistically significant difference in alleles frequencies between rheumatoid arthritis patient and control groups (p=0.260). Compared genotypes show only CG genotype of STAT4 rs10181656 polymorphism, a statistically significant difference between patient and control groups (p=0.005). However our findings suggest that this genotype decrease the risk for susceptibility to rheumatoid arthritis. We didn’t find any statistically significant association between race of the persons and the risk of RA (p=0.574). Also none of the clinical features (ACCP, RF) showed any correlation with the rs10181656 genotype distribution of the STAT4 rs10181656 polymorphism in rheumatoid arthritis patients.
In order to confirm the association between STAT4 rs10181656 polymorphism and rheumatoid arthritis in the Khuzestan province population, we recommend working with larger sample size of patients and control subjects.
 

<Introduction: Rheumatoid arthritis (RA) is a chronic, systemic and inflammatory disease, can cause swelling and damaging cartilage and bone around the joints. Polymorphic variations such asHLA-DRB1 and PTPN22 genes have received attention as potential markers of susceptibility, severity, and/or protection in RA. The C677T single-nucleotide polymorphism in MTHFR gene is one of SNPs that was associated with susceptibility to RA in some populations. The aim of this study was to investigate the MTHFR C677T polymorphism in Khuzestan patients with RA.</p> <p style="text-align: left;">Methodes: The study included 240 persons (120 patients with RA and 120 healthy controls). Genomic DNA was isolated and genotyped by using PCR-RFLP assay for the MTHFR gene C677T polymorphism.</p> <p style="text-align: left;">Results and Conclusions: Our results show that there was statistically significant difference between the groups with respect to MTHFR C677T genotype (p=0.015) and allele frequencies (0.004). we found statistically significant association between race of the persons and the risk of RA (p&lt;0.001). When we examined the clinical characteristics (RF and Anti-ccp) separately to genotype frequencies no found difference between these clinical factors and MTHFR C677T genotypes. Our findings suggest that there is an association of MTHFR C677T polymorphism with susceptibility of a person for development of RA.<br /> &nbsp;</p>

Introduction: Addiction is the mandatory use of drug, regardless of its unpleasant consequences. Like other common complex diseases, addiction is a multi-factorial and polygenic disorder. In many studies, the effect of drug addiction in humans and animal models such as rats and mice has caused epigenetic changes such as DNA methylation. Epigenetic changes by the interaction of inherited predispositions, environmental stimuli and exposure to drugs can trigger the long-lasting alterations in gene expression that influence susceptibility to addictive behaviours. DNA methylation is the best known epigenetic marker. The aim of present study was to examine the effect of epigenetic drugs drugs such as nicotine, morphine, methadone and buprenorphine on the methylation of Oprm1 gene promoter regions in male rats.
Materials and methods: In the present study, 48 male Wistar rats with mean of weight 200±30 g and approximate age 2 month treated with drugs of nicotine, morphine, methadone, buprenorphine and saline (as drug solvent) were used. Genomic DNA was extracted from whole blood of rats. Then, the extracted DNA of the groups was treated with sodium bisulfate. In order to identify areas of methylated by Methylation Specific PCR and sequencing methods were used. The obtained data were analyzed by Chi-square test statistical in SPSS ver 16 software.
Conclusion: No methylation of the two CpG sites in Oprm1 promoter regions were found in the rats treated with nicotine, morphine, methadone, buprenorphine, saline and control groups. As the methylation frequency for all groups was equal to zero. In absence of methylation, the transcription factors easily access to its target sequences and gene expression will occur. In the present study, there is no association between addiction and methylation of the Oprm1 promoter region in the male rats.
 

Aim. Rheumatoid arthritis (RA) is a common chronic inflammatory disease and causes chronic synovial inflammation eventually leading to joint destruction and disability and multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system (CNS) characterized by inflammation, demyelination and axonal degeneration. IL-4 is a most important cytokine genes associated with both RA and MS diseases. The aim of this study was to investigate the IL-4 gene 70 bp VNTR polymorphism in Khuzestan patients with rheumatoid arthritis (RA) and multiple sclerosis (MS).
Material and method. In this study, we collected blood samples from 120 RA patients, 200 MS patients, 120 healthy controls for RA and 200 healthy controls for MS. All the individuals in the both control groups were randomly selected and matched with patients groups in age and gender. Proliferation of VNTR 70 bp polymorphism was done through PCR procedure.

Results. Genotypes and allelic frequencies in each group were compared. There was no statistically significant difference in genotypes and allele frequencies of VNTR polymorphism of the IL-4 gene between RA patient and healthy control (p>0.05). But there was significant association observed in the distribution of allelic and genotypic frequencies between MS patient and healthy control (0.05 >p).

Conclusion. We conclude that there is no association between IL-4 gene 70 bp VNTR polymorphism and rheumatoid arthritis among Khuzestan’s. Result obtained is similar to a previous study carried out on RA Chinese patient in Taiwan but there is association between IL-4 gene 70 bp VNTR polymorphism and multiple sclerosis among Khuzestan’s.
 

Hemophilia A (HA) is an X-chromosome-linked coagulation disorder with a worldwide incidence of approximately 1 in every 5000 males. Almost one half of patients with severe HA have large DNA inversions that disrupt intron 22 (Inv22) of the factor (F) VIII gene .inversion of intron 22 is recognized by methods like LD-PCR southern blot and recently by IS-PCR.the aim of the research is study of the efficiency of the new method ,IS-PCR in order to recognize the common mutation Inv22.also in this research association of polymorphism C/T in intron 19 among sever hemophilia A patients and control people was studied to identify haplotype .according to the results from IS-PCR methods ,the length of the PCR product which was seen was different from the results in the main article.after sequencing product segment,it was found that IU primer ,instead of joint to similar 8 nucleotid sequence downstream the product sequence.so the difference of this product segment dose not interfere with recognition of Inv22 among normal people.it can be used in recognition of carriers .because of the lack of access to the segment of inverted segment and the fact that it was not possible to compare the product sequence by our mutant primers with expected sequence,more study to identify the difference of the seen size was not possible.the results from the association of the polymorphism C/Tshowed that there is no association for polymorphism C/T between patient population and control population.

Last Name: Abbasi First Name: Zahra
Subject: Association study of a single nucleotide polymorphism, rs2476601 of PTPN22 gene, with Rheumatoid Arthritis in southwest Iran.
Supervisors:Dr. S.R.Kazemi Nejad
Advisor: Dr.E.Rajaee , Dr. M.Poormehdi Brojeni
Degree: M.Sc Major: Genetics Field: Genetics
University: Shahid Chamran University Of Ahvaz
Faculty: Science
Key Words: RA, PTPN22, LYP, SNP.
Introduction: Rheumatoid arthritis (RA) is a common autoimmune disease with a complex genetic background. The PTPN22 gene encodes lymphoid tyrosine phosphatase LYP, a potent negative regulator of T cell activation. Polymorphic variants of this gene have previously been associated with various autoimmune disorders. The +1858C/T single-nucleotide polymorphism (SNP) (rs2476601), in the exon14 of the PTPN22 gene has been associated with susceptibility to RA in several population. The main objective of this study was association between PTPN22 (rs2476601) polymorphisms and the risk of RA in Khuzestan population in the southwest of Iranian.
Methods: A total of 120 unrelated RA patients, classified according to American College of Rheumatology (ACR) 1987 criteria, as well as 120 controls residents from Khuzestan were recruited for this study. The DNA samples were genotyped for C1858T PTPN22 gene SNP using the T-ARMS-PCR technique.

Results and Conclusions: In this study, We found an association between PTPN22 rs2476601 polymorphisms and the risk of RA in our population. The frequency of +1858T risk allele was significantly increased in patients with RA compared with controls (p = 0.009, OR = 1.75, 95%CI = 1.17-2.61) and CT genotype as well as rs2476601 T allele was a risk factor for susceptibility to RA. On the other hand, although no association between disease and C1858T of PTPN22 found in the ethnic Arab, but significant association was found between risk alleles and disease in non-Arab ethnic groups. It also indicated that no association exists between 1858T alleles and RF or Anti-CCP in Khuzestan population.
 

<p>&lt;p&gt;&amp;lt;p&amp;gt;مقدمه و اهداف: سرطان کلورکتال یکی از بدخیمی های شایع در جهان است. جهش های v-Ki-ras2 Kirsten rat sarcoma (KRAS) یکی از وقایع اولیه در تکوین و پیشرفت CRC می باشد. مطالعات پیشین ثابت کرده اند که با توجه به جهش های KRAS در بیماران مبتلا به CRC متاستازی، پاسخ به درمان های هدف گیرنده فاکتور رشد اپیدرمی (EGFR) را می توان پیش بینی کرد. از این رو، در حال حاضر آزمون KRAS برای بیماران CRC به عنوان شاخصی برای درمان با آنتی بادی های ضد EGFR ضروری به نظر می رسد. کدون های 12 و 13 اگزون شماره یک، نقاط داغ جهش در این ژن هستند. در این بررسی فراوانی وقوع جهش های کدون 12 و 13 را در بیماران خوزستانیِ مبتلا به سرطان کلورکتال تک گیر (SCRC) تعیین نمودیم و با میزان آن در سایر نواحی ایران و نیز در دیگر کشورها مقایسه کردیم.&amp;lt;br /&amp;gt; روش ها: نخست DNA ژنومی از بافت های توموری 45 بیمار خوزستانی مبتلا به SCRC که عمل جراحی برداشتن تومور یا بیوپسی توسط کلونوسکوپی انجام داده بودند، استخراج شد. با روش PCR/RFLP و سپس غنی سازی جهش، جهش های نقطه ای در این دو کدون شناسایی گردید. جهش ها در ادامه با توالی یابی با روش Sanger تایید شدند. غنی سازی روش مناسبی بود که به کار برده شد تا جهش های هتروزیگوت در نمونه هایی با نسبت کم الل جهش یافته به الل سالم را نیز شناسایی کند.&amp;lt;br /&amp;gt; نتایج و بحث: 13.33% تومورها (6/45) در کدون های 12 و 13 ژن KRAS جهش داشتند. این فراوانی با اغلبِ فراوانی های به دست آمده در دیگر کشورها (33-53%) و نیز فراوانی های به دست آمده در سایر نقاط ایران (20.3% و 28%) تفاوت بسیار دارد که می تواند براساس دلایل متعددی از جمله سهم کمتر مسیر serrated در تکوین CRC در این جمعیت، بالا بودن احتمالی وضعیت ناپایداری میکروستلایتی در آن ها، حساسیت ناکافی روش غربالگری، فاکتورهای ژنتیکی و محیطی متفاوت از جمله رژیم غذایی سرشاز از امگا-3 در این جمعیت باشد. همچنین با استفاده از روش غنی سازی فرکانس الل های شناسایی شده در گروه مورد بررسی دوبرابر گشت&amp;lt;br /&amp;gt; &amp;amp;nbsp;&amp;lt;/p&amp;gt;&lt;/p&gt;</p>