Azeri Population Research Articles

A Matched Case-Control Study of the Serum Level and Gene Expression of IL-6 and IL-12 in Patients with Schizophrenia Spectrum Disorder: An Azeri Acute Phase/Recent-Onset Psychosis Survey (ARAS) Study

Background: The causes of schizophrenia spectrum disorders are believed to be multifactorial, with both genetic and environmental factors, as well as gene-environment interactions, influencing the course of this disorder. Research suggests that immunological factors may play a role in the development of psychotic disorders. Objectives: The aim of this study is to evaluate and compare the serum levels of interleukin-6 (IL-6) and interleukin-12 (IL-12), as well as the expression levels of IL-6 and IL-12 genes, between an Iranian Azeri population of patients with first-episode psychosis and healthy controls. Methods: Forty patients who had recently experienced first-episode non-affective psychosis were allocated to the patient group. Forty healthy volunteers, matched for age and gender, were also recruited as controls. The study was conducted in 2020 in Tabriz, Iran. Peripheral blood samples were collected (using the Ficoll-Paque process) and assessed to determine the expression levels of IL-6 and IL-12 mRNA (using real-time Polymerase Chain Reaction-PCR- system), as well as the serum levels of IL-6 and IL-12 (with a sandwich ELISA kit). GraphPad Prism Version 6.0 was used for all statistical analyses. Results: Each group consisted of 40 participants in this study. Patients had significantly higher levels of IL-6 mRNA expression compared to the healthy controls (P < 0.0001), while no significant difference was found between the two groups in terms of IL-12 mRNA expression (P = 0.5697). A similar pattern was reported for the serum levels of IL-6 (P < 0.0001) and IL-12 (P = 0.0777). The area under the curve (AUC), which indicates the accuracy of the predictive model, was 0.9669 for the level of IL-6 mRNA expression (P < 0.0001). This Area (AUC) was 0.9584 for the serum concentration of IL-6 (P < 0.0001). The levels of IL-6 or IL-12 were not correlated with the severity of symptoms, gender, or age of the patients. Conclusions: The expression level of IL-6 mRNA and the serum concentration of IL-6 were altered in patients with first-episode non-affective psychosis. This finding supports the role of inflammatory pathways in the pathogenesis of psychosis. According to our results, measurement of the circulating level of IL-6 may be useful in distinguishing patients with first-episode psychosis from healthy individuals.

Correlation between LHCGR and NR5A1 genes polymorphism and male infertility risk

IntroductionInfertility is one of the important phenomena in human reproduction. Genetic factors are the most important cause of male infertility. Here, we aimed to investigate the correlation between idiopathic male infertility and SNPs of the LHCGR (rs2293275) and NR5A1 (rs1057517779) genes in the Iranian-Azeri population. MethodsThis case-control study consisted of 100 males with infertility and 100 healthy males from the Iranian Azeri population. Genomic DNA isolation from whole blood samples and Tetra-primer amplification refractory mutation system-polymerase chain reaction (Tetra-ARMS-PCR) method was used for genotyping. The data analysis was performed by chi-square (χ2) and Fisher’s exact tests. ResultsGenotyping analysis for LHCGR (rs2293275) polymorphism indicated that the frequency of C in the case group was significantly higher than in the control group (P < .05). Moreover, genotyping analysis for NR5A1 (rs1057517779) polymorphism indicated that the frequencies of the A allele and heterozygote GA genotype in the case group were significantly higher than those in the control group (P < .05). ConclusionOur study demonstrated that the SNPs of LHCGR (rs2293275) and NR5A1 (rs1057517779) genes may play a critical role in male infertility in the Iranian Azeri population. However, further studies on other ethnic origins with larger sample sizes are essential for accessing more accurate results. Moreover, functional experiments might be needed to understand the role of these polymorphisms in the molecular pathways involved in male fertility.

Correlación entre el polimorfismo de los genes LHCGR y NR5A1y el riesgo de infertilidad masculina

IntroductionInfertility is one of the important phenomena in human reproduction. Genetic factors are the most important cause of male infertility. Here, we aimed to investigate the correlation between idiopathic male infertility and SNPs of the LHCGR (rs2293275) and NR5A1 (rs1057517779) genes in the Iranian-Azeri population. MethodsThis case-control study consisted of 100 males with infertility and 100 healthy males from the Iranian Azeri population. Genomic DNA isolation from whole blood samples and Tetra-primer amplification refractory mutation system-polymerase chain reaction (Tetra-ARMS-PCR) method was used for genotyping. The data analysis was performed by Chi-square (χ2) and Fisher's exact tests. ResultsGenotyping analysis for LHCGR (rs2293275) polymorphism indicated that the frequency of C in the case group was significantly higher than in the control group (P<.05). Moreover, genotyping analysis for NR5A1 (rs1057517779) polymorphism indicated that the frequencies of the A allele and heterozygote GA genotype in the case group were significantly higher than those in the control group (P<.05). ConclusionOur study demonstrated that the SNPs of LHCGR (rs2293275) and NR5A1 (rs1057517779) genes may play a critical role in male infertility in the Iranian Azeri population. However, further studies on other ethnic origins with larger sample sizes are essential for accessing more accurate results. Moreover, functional experiments might be needed to understand the role of these polymorphisms in the molecular pathways involved in male fertility.

Evaluating the association of rs6983267 polymorphism of the CCAT2 gene with thyroid cancer susceptibility in the Iranian Azeri population.

Thyroid cancer is the most common malignancy of the endocrine system. LncRNAs play critical role in various cellular processes and are associated with several diseases. CCAT2 is a lncRNA molecule overexpressed in thyroid cancer. Single nucleotide polymorphisms in CCAT2 gene can cause changes in the structure and function of CCAT2 transcripts and susceptibility to several diseases. This study aimed to evaluate the association of rs6983267 in CCAT2 gene with thyroid cancer susceptibility in the Azeri population of Iran. In this "case-control" study, genomic DNA was extracted from peripheral blood of 102 individuals affected by thyroid cancer and 103 healthy individuals as controls. Genotyping was performed using TETRA-ARMS polymerase chain reaction. Statistical analysis showed no significant association between genotypes and/or alleles with the occurrence of thyroid cancer in the studied population, patients' gender, and tumor type. Nevertheless, we found that the allelic and genotypic distribution of this SNP was associated with the size of thyroid tumors in patients. It is assumed that investigating more individuals from both case and control group may further determine the genotypic and allelic frequencies of this SNP locus in Iranian-Azeri population.

Role of CYP1A1, CYP2D6, and NOS3 gene polymorphisms in idiopathic recurrent pregnancy loss in the Iranian Azeri population: A case-control study.

Background It is estimated that 1-5% of couples suffer from recurrent pregnancy loss (RPL). Recent studies have shown the effects of gene polymorphisms in RPL.ObjectiveThe aim of this study was to evaluate 3 gene polymorphisms including rs1048943 of CYP1A1, rs28371725 of CYP2D6, and rs7830 of NOS3 in idiopathic RPL to identify their association with RPL.Materials and MethodsBlood samples were collected from 136 women with at least 2 consecutive idiopathic miscarriages (case group) and 136 women with no history of miscarriage and at least one successful pregnancy (control group) from the Iranian Azeri population. This study was carried out between April 2018-April 2020. Amplification-refractory mutation system polymerase chain reaction was used for the rs7830, rs1048943 and rs28371725 polymorphisms in order to genotype each extracted genomic DNA sample. After that, Chi-square, Fisher's exact test and logistic regression were used to investigate whether each of these polymorphisms is associated with RPL.ResultsAmong these polymorphisms, only rs1048943 of CYP1A1 showed a statistically significant association with RPL in the Iranian Azeri women studied.ConclusionOur results suggest that CYP1A1 gene polymorphisms might be associated with a reduced risk of RPL. Further studies in other populations and in the same population with a larger sample size, as well as functional genomics analyses such as gene expression analyses or epigenetic studies are required to validate our results.

Polymorphism of the IL-10 gene in Azeri population of Iran

BackgroundInterleukin (IL)-10 is one of the key interleukins in the immune system. It plays an anti-inflammatory role in body by inhibition of the synthesis of pro-inflammatory cytokines and reducing the expression of major histocompatibility complex II molecules. The single-nucleotide polymorphism in the gene of this interleukin affects its expression level. Thus, this study was conducted to investigate the IL-10 gene polymorphism at position -1082A/G in Azeri population of Iran.MethodsBlood samples were taken from 254 healthy and non-relevant Iranian Azeri individuals. After DNA extraction, the frequency of IL-10 genotypes and alleles at -1082A/G position was determined by allele specific-PCR method. Then, q-square test was used to compare allele frequencies and IL-10 genotypes with other populations, and p value of < 0.05 was considered significant.ResultsIn Iranian Azeri population, the frequency percentage of AA, AG and GG genotypes in IL-10 gene at the -1082A/G location was 37.4, 43.3 and 19.3%, respectively. The frequency percentage of A and G alleles also were 59.1 and 40.9%, respectively. Based on statistical analysis, frequency of IL-10 genotypes in the current study was very similar to the population of Saudi Arabia, but it had a significant difference with East Asia and Ireland populations.ConclusionResults of the present study indicate similar polymorphism of IL-10 genotype with neighbor ethnicities in Middle East country. Based on patients backgrounds mentioned in their questioners, this polymorphism was associated with the susceptibility to asthma and Alzheimer in this population which are common in the region.

Did Azerbaijanis Commit The Khojaly (Aghdam) Massacre Against Their Own People?

The article deals with the evident falsification by the Azerbaijani official propaganda in regard to the massacre of the Azeri population of Khojaly in 1988. According to the Czech reporter Dana Mazalová, the massacre of about 200 Azeri population took place in the area controlled by Azeri soldiers. Mazalova’s viewpoint is proved also by the famous Azeri journalist Chingiz Mustafayev.

Association of seven fundamental genetic polymorphisms in long noncoding RNA MALAT1, SOX2OT and H19 with recurrent miscarriage in Turkish-Azeri Iranian population

BackgroundRecurrent miscarriage (RM), at a rate of 1% of all couples trying to conceive, is one of the main problems in pregnancy. The root cause of the disease has not been determined, but genetic factors and lifestyle influence the process. The minor change in the expression of lncRNAs shows its significant effects on various complications, one of which can be RM. SNPs are single nucleotide polymorphisms that have the potential to alter the function and expression of lncRNAs. Material and methodsThis study investigated seven SNPs in RM with 400 cases and 400 controls in the Iranian Turkish Azeri population using ARMS-PCR, including the MALAT1 lncRNA rs591291 rs3200401, rs619586, rs664589, and rs656605, SOX2OT lncRNA rs9839776, and H19 lncRNA rs3741216 variants. ResultsMALAT1 lncRNA rs591291 rs3200401, rs619586, rs664589, and rs656605, SOX2OT lncRNA rs9839776, and H19 lncRNA rs3741216 variants. We found that the MALAT1 lncRNA rs619586G variant in the co-dominant (AA vs. AG; OR = 0.65, 95% CI = 0.47–0.9 and AA vs. GG; OR = 0.5, 95% CI = 0.26–0.99, P = 0.0074), the dominant (AG + GG vs. AA; OR = 0.63, 95% CI = 0.46–0.85, P = 0.0023) and over-dominant (AA+GG vs. AG; OR = 0.68, 95% CI = 0.5–0.93, P = 0.016) inherited models has an association with decreased risk of RM and the MALAT1 lncRNA rs591291- rs3200401- rs619586 - rs664589 - rs656605 (C-C-G-C-G) haplotype is most likely a haplotype prone to RM. ConclusionIn conclusion, our findings propose that the rs619586 G variant in the Iranian Turkish Azeri may have potential protective effects, lowering the risk of RM.

HLA alleles and haplotypes in Iran Tabriz Azeris population: genes and languages do not correlate

Azeri people are at present day mainly living in an area which comprises North (Azerbaijan) and South (Azeri Iran provinces) parts, living the biggest population in Azeri Iran provinces with about 17–20 million people. They were studied HLA-A, -B, -DRB1 and -DQB1 allele and extended haplotype frequencies in unrelated Iranian Tabriz Azeris from a rural area close to Tabriz City. The HLA extended haplotypes with highest frequencies are: 1) HLA- A*24:02-B*35:01-DRB1*11:01-DQB1*03:01, shared with Mediterraneans and southern Russians (Chuvash, which also show Mediterranean characters); and 2) HLA-A*01:02-B*08:01-DRB1*03:01-DQB1*02:01, found also in Chuvash and other Azeri samples from Tabriz. Neí’s DA HLA-DRB1 genetic distances, HLA-DRB1 Neighbour-Joining dendrogram and Vista analyses show that population with closest distance is Kurdish, followed by Iranian Gorgan and Southern Russia/ North Caucasus Chuvash; probably these latter groups and Azeris were populating North Mesopotamia/ Caucasus Mts. since prehistoric times. Kurds (in Iraq and Iran) do not speak Turk while Azeris do: they are both genetically close, but they are not genetically close to present day Anatolia (Turkey) Turks who also speak Turk language and show a typical Mediterranean HLA profile. In summary, Azeri population studies show examples that genes and languages do not correlate, contradicting the postulate asserted by others.

Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with idiopathic azoospermia and oligospermia risk in Iranian population

BackgroundMale infertility is a heterogeneous disease which can occur due to spermatogenesis defects. The idiopathic azoospermia and oligospermia are the common cause of male infertility with unknown underlying molecular mechanisms. The aim of this study was to investigate association of idiopathic azoospermia and oligospermia with single-nucleotide polymorphisms of CATSPER1, SPATA16 and TEX11 genes in Iranian-Azeri men.MethodsIn this case–control study, we recruited 100 infertile men (case group) and 100 fertile men (control group) from Azeri population in north western provinces, Iran, population. The genomic DNA was extracted using a proteinase K method from peripheral blood leukocytes. The genotypes analysis was conducted using tetra-primer amplification refractory mutation system-polymerase chain reaction method. The obtained data were analyzed by statistical software.ResultsWe found a significant difference in the frequencies of heterozygote AB and mutant homozygote BB genotypes in the CATSPER1 (rs2845570) gene polymorphism between patients and healthy controls (p < 0.05). Moreover, we observed a significant difference in the frequencies of heterozygote BA genotype in the SPATA16 (rs1515442) gene polymorphism between patients and healthy controls (p < 0.05). However, no significant difference was found in genotypes distribution of case and control groups in the TEX11 (rs143246552) gene polymorphism.ConclusionOur finding showed that the CATSPER1 (rs2845570) and SPATA16 (rs1515442) genes polymorphism may play an important role in idiopathic azoospermia and oligospermia in Iranian Azeri population. However, more extensive studies with larger sample sizes from different ethnic origins are essential for access more accurate results.

AURKC Gene Polymorphism (rs58264281) Associated with Idiopathic Male Infertility Risk in Northeast of Iran: A Case-Control Study

Background: Infertility is a major public health and social problem in human reproduction that is known as a multifactorial complex disorder. Genetic background and mutations and single nucleotide polymorphisms (SNPs) on the genes involved in sperm development are the important causes of male infertility. Objectives: In this study, we evaluated the association of AURKC gene polymorphism (rs58264281) and idiopathic male infertility in the Iranian Azeri population. Methods: This study was performed among 100 men with idiopathic infertility (case group) and 100 healthy men with successful fertility (control group) from East Azerbaijan, Iran. Genomic DNA extraction was carried out from peripheral blood samples by the proteinase K method. Genotype analysis was conducted by the tetra-primer amplification refractory mutation system-polymerase chain reaction (Tetra-ARMS PCR). SPSS version 21 was used for the analysis of the obtained data. Results: We observed that the CA and AA genotypes were significantly increased in patients with infertility as compared to healthy controls. Our results demonstrated that the mutant allele of AURKC gene polymorphism (rs58264281) was a significant risk factor in male infertility. Conclusions: We suggested a significant correlation between the AURKC gene rs58264281 polymorphism and male infertility in the Iranian Azeri population. However, further studies are required among other ethnicities, races, and geographic areas with larger sample sizes.

GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.

ObjectiveAutosomal‐recessive nonsyndromic hearing loss (ARNSHL) is a heterogeneous genetic disorder. Mutations in the gap junction protein beta 2 (GJB2) gene, encoding connexin 26, are a significant cause of ARNSHL in different ethnic groups. This study aimed to identify the frequency and type of GJB2 mutations in the Iranian Azeri population.MethodsFifty unrelated families presenting ARNSHL in Ardabil Province, the northwest of Iran, were studied to determine the frequency and type of GJB2 mutations leading to ARNSHL. ARMS‐PCR screened all DNA samples to detect c.35delG; p. Gly12Val mutation. In addition, normal samples for c.35delG; p. Gly12Val were analyzed by direct sequencing for other GJB2 mutations.ResultOf the fifty families, 13 (26%) showed a GJB2 gene mutation, with c.35delG; p. Gly12Val mutation was the most prevalent one that occurred in eight (61.5%) out of the 13 families. Of the families, two were homozygous for c.358‐360delGAC; p. Glu120del mutation, and one was homozygous for c.290dupA; p. Tyr97Ter and c.299–300delAT; p. His100Arg mutations. Also, we detected a novel mutation, c.238C>A; p. Gln80lys, in one of the families.ConclusionOur findings are comparable to previous studies, indicating c.35d3lG; p. Gly12Val mutation in the GJB2 gene is the most common cause of GJB2‐related hearing loss in the Iranian Azeri population. Furthermore, our study highlights the significance of ARNSHL screening programs of live births based on local population data in Iran.

Molecular Analysis of Single-Nucleotide Polymorphisms of TRAF5 Gene in Patients with Behçet's Disease from the Azeri Population of Northwest Iran

Background: Behçet's disease (BD) is a chronic inflammatory disease with unknown causes. The geographical distribution is mostly consistent with the historic Silk Road. The role of tumor necrosis factor receptor-associated factor 5 (TRAF5) gene in the inflammation signaling pathway leads more attention to the potency of different polymorphisms of the TRAF5 gene, in the development of BD. Methods: This was a case-control study conducted among the Azeri Turk ethnic group (50 BD patients and 50 persons with no history of autoimmune disease), Tabriz, Iran. Four different TRAF5 gene polymorphisms were assessed via the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism technique. Data were analyzed by SPSS Version 20. Results: Genotypic distributions of four studied Single nucleotide polymorphisms (SNPs) had no significant difference between case and control groups (rs6540679 (p=0.50), rs12569232 (p=0.86), rs10863888 (p=0.14), and rs7514863 (p=0.24). There were also found no significant differences in SNP allelic frequencies between cases and controls

MicroRNAs and Pro-Inflammatory Cytokines as Candidate Biomarkers for Recent-Onset Psychosis

Recent studies on the schizophrenia spectrum and other psychotic disorders showed that alternation of immune system components, particularly microRNAs (miRNAs) and pro-inflammatory compounds, plays a significant role in developing the illness. The current study aimed to evaluate serum expression of the miRNA-26a, miRNA-106a, and miRNA-125b as genetic factors and serum levels of IL-6, IL-1β, and TNF-α as pro-inflammatory factors; then investigated the correlation between these elements in an Iranian Azeri population. Forty patients with recent-onset non-affective psychosis and 40 healthy volunteers as a control group were involved. Expression levels of miRNAs and serum levels of the cytokines were measured using PCR and ELISA, respectively. Our findings showed higher levels of IL-6, IL-1β, TNF-α, miR-26a, and miR-106a in the plasma of the patients' group compared with the control. miRNA-26a showed a statistically significant higher level (p< .0003) compared to the control group, with AUC = 0.8434 (95% CI: 0.7690 to 0.9378, P< .0001) and cut-off point = 0.1726 in comparison to other miRNAs as mentioned above; in this regard, it might be a suggestive biomarker for schizophrenia in the early stage of the illness. Moreover, miRNAs' expression level was not substantially associated with the level of any measured cytokines above. The relationship between other miRNAs and cytokines is not yet well understood; accordingly, there are encouragement and support for continued research in this fascinating field. Funding Statement: This work also was supported by the Faculty of Medicine Tabriz University of Medical Sciences with grant number 65618/D/5. Declaration of Interests: None to declare. Ethics Approval Statement: The regional ethics committee approved the research proposal with the registration code I.R.TBZMED.REC.1397.965 at Tabriz University of Medical Sciences.

RESULTS OF A SURVEY CONDUCTED AMONG THE POPULATION TO STUDY KNOWLEDGE, EXPERIENCE AND ATTITUDES TOWARDS THE COVID 19 PANDEMIC IN AZERBAIJAN

The survey covering cities and regions was conducted in economic regions such as Baku, Absheron, Ganja-Gazakh, Lankaran, Upper Karabakh, Central Aran, Gorny Shirvan and Guba- Khachmaz, where the Red Crescent Society operates. The Nakhchivan Autonomous Republic and the occupied regions were not included in the survey. At the same time, the survey involved the ethnic Azeri population of the occupied regions. The survey involved respondents over 16 years old. In order to involve children under the age of 18 in the study, the consent of their parents was first obtained. Thus, the results of studies carried out in the first months of the COVID-19 pandemic show that it is necessary to raise public awareness of the rules for using protective equipment, proper hand washing, and the benefits of social distance. Supporting relevant agencies to provide these supplies at no cost will help reduce the incidence of disease in the population.

Vitamin D Receptor Gene Polymorphism and the Risk of Multiple Sclerosis in the Azeri Population of Iran.

Multiple sclerosis (MS), a disease of the central nervous system (CNS), is associated with damage to the myelin sheath of neurons. It is demonstrated that vitamin D deficiency plays an important role in the development of the disease. Binding of vitamin D to its specific nuclear receptors is a way to exert its function. Possible correlation between the vitamin D receptor (VDR) gene and MS was evaluated in the Azeri population of Iran. Different genotypes of the Bsml site were determined by using the PCR-RFLP method in 148 MS patients and 220 non-relative healthy controls. In MS patients, genotype bb was significantly higher than the healthy controls (p<0.05). Additionally, most subjects of the MS group had been insufficiently exposed to sunlight before the age of 15 (p<0.001). Our findings indicated that the red meat intake in MS patients was significantly higher than the healthy controls (p<0.001). In addition, the healthy controls had appropriate dieting behaviors in comparison to MS patients (excessive intake of some foods) (p=0.0001). In conclusion, genotype BB and sufficient exposure to sunlight before the age of 15 were the protective factors against MS. Although, excessive consumption of red meat and inappropriate dieting behaviors were predisposing factors to MS disease.

Association of Interleukin-1 and Inteleukin-1 Receptor Antagonist Gene Polymorphisms with Multiple Sclerosis in Azeri Population of Iran.

Cytokines as important mediators have a critical role in appropriate immune responses, the irregular production of which can lead to Multiple Sclerosis (MS). Proinflammatory cytokine interleukin-1 (IL-1) triggers inflammatory responses. Function and production of the cytokine are influenced by IL-1 coding gene polymorphism and those antagonists gene polymorphism. The aim of the present study was to evaluate the possible correlation between MS and IL-1 related alleles in Azeri population of Iran. Variable number tandem repeats (VNTR) genotypes of 150 MS patients and 220 healthy non-relative controls were determined. In the healthy controls, genotype TT at IL-1A (-889) location was significantly higher than the MS patients (p=0.0001). However, a significant difference was not found between the two groups in genotypic/allelic frequency at IL- 1B+ 3953 location. Evaluation of the IL-1RA gene revealed that genotype 1/2, and genotype 1/3 were significantly higher in the healthy controls and MS patients, respectively. Our findings indicated that the consumption of fast-food in MS patients was significantly higher than controls (p= <0.05). Also, a considerable number of MS patients had inappropriate dieting behaviors such as not eating breakfast (p= 0.0001), and irregular eating habits (p= 0.0001). Polymorphisms of the IL-1B genes and common alleles of IL-1RA were not considered as risk factors for MS disease. However, genotype TT at IL-1A (-889) location and the rare allele of IL-1RA3 can be a potential risk factor for the disease. Furthermore, inappropriate dieting behaviors and consumption of fast-food can increase the risk of MS.

Association of TOMM40, CHAT and SORL1 Polymorphisms with the Alzheimer’s Disease in the Turkish-speaking Azeri population in Northwest of Iran

Recent genome-wide association studies have introduced several genetic variants which contribute to the late-onset Alzheimer's disease (LOAD). Polymorphisms of CHAT, TOMM40, and SORL1 genes have been reported to be associated with the LOAD phenotype. This study was endeavored to evaluate the association of the CHAT rs3810950, TOMM40 rs1160985 and SORL1 rs11218304 polymorphisms with the LOAD in the Turkish-speaking Azeri population of northwest Iran. In a case-control study, we included 174 cases: 88 cases with LOAD diagnosis and 86 healthy individuals. Peripheral blood samples were collected and the genomic DNA of all participants were extracted. Genotyping was carried out by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. We did not observe any significant association between the CHAT rs3810950 and SORL1 rs11218304 alleles with the LOAD. However, both the TOMM40 rs1160985 minor allele T and TT genotype showed significant negative associations with the LOAD. Hence, the TOMM40 rs1160985 polymorphism could be considered as a protective genetic factor against the LOAD in the Turkish-speaking Azeri population of northwest Iran.

IFN-γ and TNF-α Gene Polymorphisms in Multiple Sclerosis Patients in Northwest Iran.

Cytokines are polypeptides that play critical roles in immune responses. Gene polymorphisms occurring in the inflammatory cytokines are taking a role in autoimmune diseases, including multiple sclerosis (MS), which may induce inappropriate immune responses. The aim of this study was to investigate the allelic and genotypic frequencies of interferon gamma gene (IFN-γ) at +874A/T locus and tumor necrosis factor (TNF-α) at+308A/G locus in MS patients of Azeri population. At first, a questionnaire was prepared for each of 240 healthy, non-relative, and 152 Azeri MS patients before obtaining the blood sample from all subjects. After DNA extraction, the frequency of alleles and genotypes of the IFN-γ and TNF-α genes at +874A/T and -308G/A loci, respectively, were determined by allele-specific PCR method. Finally, the frequencies were compared between control and MS patients by chi-square test (x2-test) and p<0.05 was considered significant. In the IFN-γ +874A/T gene single nucleotide polymorphism (SNP), the most allelic and genotypic frequencies in MS patients were the A allele, 55.26% (p=0.04) and the AT genotype, 52.63% (p=0.048). In healthy individuals, it was 65.42% for the A allele and 45.42% for the AA genotype. For the TNF-α 308 G/A SNP, the highest allelic and genotypic frequencies in MS patients were the G allele with 55.92% (p<0.001) and AG genotype with 61.84%, and in healthy subjects, the allelic and genotypic frequencies were 84.2% and 70.8% for the G allele and GG genotype, respectively. Head trauma, the infection with the herpes virus and Mycoplasma pneumonia, frequent colds and high consumption of canned foods provide grounds for MS. The T allele in the IFN-γ gene (+874) and the genotypes of AA and AG at the TNF-α gene (-308) at the position-308 were considered as potential risk factors for MS. Therefore, the polymorphisms in cytokine genes and following changes in their expression levels can be effective in susceptibility to MS.

TNF-α gene polymorphism in Iranian Azeri population

BackgroundTumor necrosis factor (TNF-α) is one of the major cytokines in the immune system that plays a major role in the inflammation in the body. The single nucleotide polymorphism (SNP) in the gene of this cytokine at position −308A/G that occurs in the promoter affects its expression level and subsequently predisposes to some malignancies and diseases. This study was conducted to investigate the TNF-α gene polymorphism at position −308A/G in the Azeri population. Material and methodsBlood samples were collected from 240 healthy and non-relevant Azeri individuals. After DNA extraction, the frequency of TNF-α gene genotypes and alleles at -308A/G was determined by allele specific-PCR method. Then comparisons between allele frequencies and TNF-α genotypes with other populations were performed using chi-square test and P value of <0.05 was considered significant. ResultsThe frequency percentage of GG, AG and AA genotypes in TNF-α cytokines at -308A/G in Azeri population was 70.8%, 26.7% and 2.5%, respectively. The frequency percentage of G and A alleles were 84.2% and 15.8%, respectively. The occurrence of TNF-α allele A at -308A/G is associated with high expression of this cytokine. ConclusionThe frequency of AA genotype was much lower than the other two genotypes, with low prevalence observed in other populations, which had a significant association with many diseases and even cancer; therefore, there was no significant difference with most studies examining the polymorphism of this cytokine in the same position.