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Background: As an emerging pandemic disease, COVID-19 encompasses a spectrum of clinical diagnoses, from the common cold to severe respiratory syndrome. Considering the shreds of evidence demonstrating the relationship between human leukocyte antigen (HLA) allele diversity and infectious disease susceptibility, this study was conducted to determine the association of HLA alleles with COVID-19 severity in Iranian subjects. Methods: In this case-control study, a total of 200 unrelated individuals (consisting of 100 people with severe COVID-19 and an average age of 55.54 as the case group, and 100 patients with mild COVID-19 with an average age of 48.97 as the control group) were recruited, and HLA typing (Locus A, B, and DR) was performed using the Olerup sequence-specific oligonucleotide (SSO) HLA-typing kit. Results: Our results showed that HLA-A*11 and HLA-DRB1*14 alleles were more frequently observed in severe COVID-19 cases, while HLA-B*52 was more common in mild cases, which was in agreement with some previous studies. Conclusion: Our results confirmed the evidence for the association of HLA alleles with COVID-19 outcomes. We found that HLA-A*11 and HLA-DRB1*14 alleles may be susceptibility factors for severe COVID-19, while HLA-B*52 may be a protective factor. These findings provide new insight into the pathogenesis of COVID-19 and help patient management. [ABSTRACT FROM AUTHOR]

Background: Leishmaniasis is currently considered a re-emerging or emerging infection based on the geographic region. The outcome of leishmaniasis vastly depends on Leishmaniahost interaction. This preliminary study aimed to show the association of human leukocyte antigen (HLA) class I and II genes with healed and non-healed cutaneous leishmaniasis (CL), and symptomatic and asymptomatic visceral leishmaniasis (VL) compared with control groups in Iran. Methods: Ninety-five people, including 31 patients versus 64 individuals in the control group, were enrolled. Among them, 20 patients had confirmed CL based on amastigote observation, 10 had improved CL and 10 non-healed CL. Eleven patients were suffering from confirmed VL based on direct agglutination test (Five asymptomatic and six symptomatic VL cases). Besides, they were residents in an endemic area of VL in the northwest of Iran. To select a control group, it was ensured that they had no history of leishmaniasis. Peripheral blood samples were collected from each patient. After DNA extraction, HLA typing was conducted using polymerase chain reaction - sequence-specific priming (PCR-SSP). Subsequently, data were statistically analyzed by SPSS. Results: There was a statistical relationship between the presence of HLA-A26 and CL, healed CL and the existence of the B38 allele, C1 allele and symptomatic VL, as well as B1.4 allele and asymptomatic VL (P<0.05). Conclusion: This primary finding indicates that several HLA genes have a potential role in the susceptibility of Iranian people to CL and VL. [ABSTRACT FROM AUTHOR]

One of the probable hypotheses for the onset of autoimmunity is molecular mimicry. This study aimed to determine the HLA-II risk alleles for developing Hashimoto's thyroiditis (HT) in order to analyze the molecular homology between candidate pathogen-derived epitopes and potentially self-antigens (thyroid peroxidase, TPO) based on the presence of HLA risk alleles. HLA-DRB1/-DQB1 genotyping was performed in 100 HT patients and 330 ethnically matched healthy controls to determine the predisposing/protective alleles for HT disease. Then, in silico analysis was conducted to examine the sequence homology between epitopes derived from autoantigens and four potentially relevant pathogens and their binding capacities to HLA risk alleles based on peptide docking analysis. We identified HLA-DRB1*03:01, *04:02, *04:05, and *11:04 as predisposing alleles and DRB1*13:01 as a potentially predictive allele for HT disease. Also, DRB1*11:04 ~ DQB1*03:01 (Pc = 0.002; OR, 3.97) and DRB1*03:01 ~ DQB1*02:01 (Pc = 0.004; OR, 2.24) haplotypes conferred a predisposing role for HT. Based on logistic regression analysis, carrying risk alleles increased the risk of HT development 4.5 times in our population (P = 7.09E-10). Also, ROC curve analysis revealed a high predictive power of those risk alleles for discrimination of the susceptible from healthy individuals (AUC, 0.70; P = 6.6E-10). Analysis of peptide sequence homology between epitopes of TPO and epitopes derived from four candidate microorganisms revealed a homology between envelop glycoprotein D of herpes virus and sequence 151-199 of TPO with remarkable binding capacity to HLA-DRB1*03:01 allele. Our findings indicate the increased risk of developing HT in those individuals carrying HLA risk alleles which can also be related to herpes virus infection., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

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. [ABSTRACT FROM AUTHOR]

OBJECTIVE: Celiac disease is a chronic disease that affect small bowel by making its villi become atrophic. Various environmental and genetic factors have been identify as inducing factors for celiac disease. Most of the patients has one of the HLA DQ forms. Although the prevalence of these genes are variable in different areas of the world, we do not have a comprehensive information about this issue in our region. Thus the aim of present study is to investigate the prevalence of HLA DQ typing of patients who visited Emam Reza Gastroenterology clinic of Shiraz(IRAN). METHODS: In this case-control study all under 18 years old children who were diagnosed with celiac disease and have visited Emam Reza gastroenterology clinic were investigated. The diagnosis of celiac disease was made by history, physical exam, serologic test, and histopathology of duodenal biopsy. Blood sample was taken and HLA typing performed using PCR method at Motahari clinic cytology laboratory. Also those people who neither them self nor their first degree relatives were not case of celiac disease and underwent HLA typing for other reason were identified as control group. The statistical analysis was done using SPSS 18 software. The p value < 0.05 was identified as statistically significant. RESULTS: A total of 139 patients with celiac disease and 146 normal children were studied. The mean age of the patient with celiac disease were 9.1 years old with standard deviation of 3.4 years old. 64% of the celiac patients were girls and 36% were boys. While this proportion was 54.4% for boy and 48.6% for girls in control group. The most common HLA in celiac patients group were HLA DQ2 and 8 but the most common ones in control group were HLA DQ 8 and 5. Failure to Thrive were the most common signs of the celiac patients with a prevalence of 60 children. Total IgA titer were normal in 98.6% of the patients and TTG IgA titer were positive in 93.5% of the patients. The most common co existing disease with the celiac disease were diabetes with a prevalence of 30 children (66.7%). CONCLUSION: present study reveals that the prevalence of the HLA DQ2 and 8 among patients with celiac disease is 72.6% and 53% in our normal population. [ABSTRACT FROM AUTHOR]

Background: The pathophysiology underlying the progression and development of autoimmune conditions, such as Rheumatoid Arthritis (RA), is a result of dysregulations of the immune system. Research has explored the genetic alterations present in RA; however, limited studies have examined the role of Killer cell Immunoglobulin-like Receptors (KIR) and Human Leukocyte Antigen (HLA) molecules in RA. Therefore, the aim of this study was to examine KIR genes, their HLA ligands, and KIR-HLA compounds in patients with RA. Methods: In this case-control study, a total of 50 patients with RA and 100 healthy individuals were enrolled. DNA samples were evaluated using PCR with sequence specific Primers (PCR-SSP). Odds ratio (OR) with a 95% confidence interval (CI) were reported. Results: Among the KIR genes examined, KIR2DLA (p= 0.0255, OR= 0.389, 95% CI= 0.210-0.722) and KIR2DS4-full (p< 0.0001, OR= 6.163, 95% CI= 3.174-11.968) were observed to have a statistically significant correlation with disease susceptibility to RA. As an inhibitory gene, KIR2DLA was observed to have a protective effect against RA while KIR2DS4-full as an activating gene, was found to increase risk for RA. No significant associations were found between any of the other KIR genotypes, HLA ligands, or KIR-HLA compounds examined in this study to RA susceptibility. Conclusions: In this study of RA in the Lur population of Iran, KIR2DS4-full was observed to increase susceptibility to RA, while KIR2DL5A was found to act as a protecting factor based on both the cross Table and regression analyses. Further research should focus on repeating this study in additional populations. [ABSTRACT FROM AUTHOR]

Yazd City (1,200,000 inhabitants) is placed in the middle of its Iran desert province and it was constructed on a oasis in ancient times.However,it was a central point on the Silk Road and merchants from both Asia and Mediterranean/European areas crossed through Yazd City.We have studied HLA-A,-B,-DRB1 and DQB1 alleles in Yazd population.Analysys of nine most frequent extended class I and class II haplotypes shows that four of them are specific of this population.The other six haplotypes are also found in Asian and Mediterranean populations in significant frequency. This supports that the nowadays relatively isolated in desert Yazd area also contains people that may bear HLA genes probably originated because of long lasting merchants route between Europe and Asia through the European/Asian Silk Road in addition to other HLA genes close to other Iranian populations, including Kurds. [ABSTRACT FROM AUTHOR]

In this study, we investigated HLA class I and class II allele and haplotype frequencies in Emiratis and compared them to those of Asian, Mediterranean, and Sub-Saharan African populations., Methods: Two-hundred unrelated Emirati parents of patients selected for bone marrow transplantation were genotyped for HLA class I ( A , B , C ) and class II ( DRB1 , DQB1 ) genes using reverse sequence specific oligonucleotide bead-based multiplexing. HLA haplotypes were assigned with certainty by segregation (pedigree) analysis, and haplotype frequencies were obtained by direct counting. HLA class I and class II frequencies in Emiratis were compared to data from other populations using standard genetic distances (SGD), Neighbor-Joining (NJ) phylogenetic dendrograms, and correspondence analysis., Results: The studied HLA loci were in Hardy-Weinberg Equilibrium. We identified 17 HLA-A , 28 HLA-B , 14 HLA-C , 13 HLA-DRB1 , and 5 HLA-DQB1 alleles, of which HLA-A*02 (22.2%), - B*51 (19.5%), - C*07 (20.0%), - DRB1*03 (22.2%), and - DQB1*02 (32.8%) were the most frequent allele lineages. DRB1*03 ~ DQB1*02 (21.2%), DRB1*16 ~ DQB1*05 (17.3%) , B*35 ~ C*04 (11.7%), B*08 ~ DRB1*03 (9.7%), A*02 ~ B*51 (7.5%), and A*26 ~ C*07 ~ B*08 ~ DRB1*03 ~ DQB1*02 (4.2%) were the most frequent two- and five-locus HLA haplotypes. Correspondence analysis and dendrograms showed that Emiratis were clustered with the Arabian Peninsula populations (Saudis, Omanis and Kuwaitis), West Mediterranean populations (North Africans, Iberians) and Pakistanis, but were distant from East Mediterranean (Turks, Albanians, Greek), Levantine (Syrians, Palestinians, Lebanese), Iranian, Iraqi Kurdish, and Sub-Saharan populations., Conclusions: Emiratis were closely related to Arabian Peninsula populations, West Mediterranean populations and Pakistanis. However, the contribution of East Mediterranean, Levantine Arab, Iranian, and Sub-Saharan populations to the Emiratis' gene pool appears to be minor.

Heterogenic pattern of HLA associations with myasthenia gravis (MG) among different ethnicities and also among different MG subgroups has been the subject of debate in large series of many studies. One hundred and sixty Iranian MG patients were investigated for HLA class II (DRB1, DQA1, DQB1) associations compared to two hundred healthy controls from the same ethnic population. DRB1*11 DQA1*0501 DQB1*0301 haplotype was found to be protective for total (ocular plus generalized) MG (P c = 0.005, OR = 0.49) and generalized MG (P c = 0.008, OR = 0.49). DRB1*04 DQA1*0301 DQB1*0302 haplotype (P c = 0.03, OR = 2.25) was predisposing for anti-acetylcholine receptor (AChR) antibody-positive MG, while DRB1*16 DQA1*0102 DQB1*05 (P c = 0.013, OR = 4.28) was predisposing for anti-muscle specific tyrosine kinase (MuSK) antibody-positive MG. There was also a trend of positive association for DRB1*14 DQA1*0104 DQB1*05 haplotype with MuSK-positive MG (P c = 0.054, OR = 3.97). Among other MG subgroups and with less significance, DRB1*0101 DQA1*0101 DQB1*05 haplotype (P = 0.016, OR = 3.68) had positive association with pure ocular MG, and DRB1*03 DQA1*0501 DQB1*0201 haplotype (P = 0.024) had negative association with thymomatous MG. This study highlights the importance of appropriate MG subgrouping according to clinical and paraclinical characteristics in HLA studies among MG patients. [ABSTRACT FROM AUTHOR]

Despite that the association of Behçet's disease (BD) with the HLA-B5 was first established in the 1970s, a number of recent genome-wide association studies have both confirmed and furthered this association-in various populations-to individual SNPs both inside and outside the HLA. The former include HLA-B, MICA, and HLA-A, while the latter encompass IL10 and IL23R-IL12RB2 regions. The present study examined whether some of these SNPs could be replicated in an Iranian population, where the prevalence of disease is amply documented. Eight SNPs were selected and tested in 552 patients and 417 controls. These were rs7539328, rs12119179, rs1495965, rs1518111, and rs1800871 in IL10 and IL23R-IL12RB2 regions and rs114854070, rs12525170, and rs76546355 (formerly rs116799036) in the HLA locus. The well-known BD-associated genes HLA-B and MICA were independently genotyped. Although we were not able to formally replicate the association with IL10 and IL23R- IL12RB2, we do report that BD in Iran is strongly associated with HLA-B*51, MICA-A6, and the three HLA-linked SNPs (odds ratio (OR) = 3.38, P = 6.21 × 10; OR = 2.08, P = 1.58 × 10; and OR = 1.67-4.05, P = 1.45 × 10 to 4.79 × 10, respectively). Our data further indicate that the robust HLA-B/MICA association may be explained by a single variant (rs76546355) between the two genes. Overall, these data contribute to a better appraisal of the intriguing linkage between BD and the ancient Silk Route, spanning from the Mediterranean shores to Japan. [ABSTRACT FROM AUTHOR]

Kurds are living at Middle East region comprising several countries (38 million people) and also have emigrated to Asia, Europe and America. Kurds from Iran have been HLA typed in the present work from Saqqez and Baneh towns, Kordestan province, Iran. Origin of Kurds is considered autochthonous from Anatolia and surrounding mountains :they have been referred as "the mountain people" by classic Persian, Greek and Roman authors. Present day Turks are also autochthonous from Anatolia, but they were not recognized by classical authors as living in the mountains and they speak a language of Asian origin that was imposed to Anatolia by a "elite" invasion without a noticeable high Asian gene input. Most frequent class I and class II HLA alleles found in Iranian Kurds population are: HLA-A*24:02, A*02:01 and HLA-B*35:01, and HLA-DRB1*11:01, DRB1*03:02 and HLA-DQB1*03:01; also, most frequent HLA extended haplotypes from this Iran Kurdish sample are not shared with Iranians but with Mediterranean, Turkish and Caucasus people. This is confirmed by Neighbour-Joining and correspondence analysis studied together with the corresponding populations. Finally, our studies show that both Kurds and Turks are genetically original from Anatolian Peninsula and surrounding countries and that an apparent Asian genetic or Aryan invasion does not exist in the area., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)

Specific alleles at the HLA-DRB1, -DQA1, and -DQB1 loci seem to be associated with variable risks of developing type 1 diabetes (T1D). This study assessed the distribution of HLA-DR and -DQ alleles among Iranian T1D patients and healthy controls. In this study, HLA-DRB1, -DQA1, and -DQB1 alleles were determined in 100 children with T1D and 100 unrelated healthy controls. The following alleles were found to have a strong positive association with T1D: DRB1*0301, DRB1*0401, DRB1*0402, DQA1*0301, DQA1*0501, DQB1*0201, and DQB1*0302. Meanwhile, protective associations were found for DRB1*1001, DRB1*1101, DRB1*15, DRB1*16, DQA1*0102, DQA1*0103, DQB1*0301, DQB1*0501, and DQB1*0602 alleles. The haplotypes found most frequently among patients with T1D were DRB1*0301-DQA1*0501-DQB1*0201, DRB1*0401-DQA1*0301- DQB1*0302, and DRB1*0402-DQA1*0301-DQB1*0302, whereas DRB1*1101-DQA1*0501-DQB1*0301 and DRB1*16-DQA1*0102- DQB1*0501 haplotypes were negatively associated with the disease. These results confirm the previously reported association of specific HLA-DR and HLA-DQ alleles and haplotypes with T1D in Iranian population. The notable difference was the identification of DRB1*16-DQA1*0102-DQB1*0501 as a protective haplotype and the absence of a negative association of DRB1*1301-DQA1*0103-DRB1*0603 with T1D. [ABSTRACT FROM AUTHOR]

Objective(s): The aim of this study was to investigate the association between HLA class I alleles (HLA-A*02, HLA-A*24, HLA-Cw*08, HLA-B5401) and proviral load in HTLV-I associated myelopathy/tropical spastic paraperesis (HAM/TSP) patients in Iranian population. Materials and Methods: 20 new cases of HAM/TSP patients and 30 HTLV-I infected healthy carriers were recruited. Peripheral blood samples were collected. Peripheral blood mononuclear cells (PBMCs) were isolated. DNA was extracted from PBMC.HTLV-I proviral load was calculated by Taqman quantitative real time polymerase chain reaction (qRT-PCR). PCR sequence-specific primer (PCR-SSP) reactions were performed to detect HLA-A, HLA-B and, HLA-Cw alleles. Results: There was no significant difference in sex and age between asymptomatic and HAM/TSP group. The Mann-Whitney U test was used to compare proviral load between HAM/TSP patients and healthy carrier. Provirus load of HAM/TSP patients was significantly higher than that of HCs (P=0.003, Mann-Whitney U test).Odd ratio was calculated to determine association between class I alleles including (HLA-A*02, HLA-A*24, HLA-Cw*08) and risk of HAM/TSP development. We couldn't find any association between these class I alleles and risk of HAM/TSP development in our study. In our survey HLA-A*02, HLA-A24, HLA-Cw*08 didn't have protective effect on proviral load (P=0.075, P=0.060 and 0.650 Mann-Whitney U test respectively). Conclusion: In conclusion, certain HLA alleles with protective effect in one population may have not similar effect in other population. This may be because of pathogen polymorphism or host genetic heterogeneity and allele frequency in desired population. [ABSTRACT FROM AUTHOR]

An important number of studies have been conducted on the potential association between human leukocyte antigen ( HLA ) genes and COVID-19 susceptibility and severity since the beginning of the pandemic. However, case-control and peptide-binding prediction methods tended to provide inconsistent conclusions on risk and protective HLA alleles, whereas some researchers suggested the importance of considering the overall capacity of an individual's HLA Class I molecules to present SARS-CoV-2-derived peptides. To close the gap between these approaches, we explored the distributions of HLA-A , -B , -C , and -DRB1 1st-field alleles in 142 Iranian patients with COVID-19 and 143 ethnically matched healthy controls, and applied in silico predictions of bound viral peptides for each individual's HLA molecules. Frequency comparison revealed the possible predisposing roles of HLA-A*03 , B*35 , and DRB1*16 alleles and the protective effect of HLA-A*32 , B*58 , B*55 , and DRB1*14 alleles in the viral infection. None of these results remained significant after multiple testing corrections, except HLA-A*03 , and no allele was associated with severity, either. Compared to peptide repertoires of individual HLA molecules that are more likely population-specific, the overall coverage of virus-derived peptides by one's HLA Class I molecules seemed to be a more prominent factor associated with both COVID-19 susceptibility and severity, which was independent of affinity index and threshold chosen, especially for people under 60 years old. Our results highlight the effect of the binding capacity of different HLA Class I molecules as a whole, and the more essential role of HLA-A compared to HLA-B and -C genes in immune responses against SARS-CoV-2 infection., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Basir, Majzoobi, Ebrahimi, Noroozbeygi, Hashemi, Keramat, Mamani, Eini, Alizadeh, Solgi and Di.)

Both genetic and environmental factors seem to play role in the etiology of Meniere's disease (MD). Several genes may be involved in susceptibility of MD including Human Leukocyte Antigens (HLA). The associations between MD and HLA alleles have been previously studied in other populations and certain HLA alleles were shown to be predisposing. The aim of this study was to determine the association between HLA-C allele frequencies and definite MD in patients who refer to Amir-Alam otolaryngology tertiary referral center in Tehran. Patients with definite MD (N=22) enrolled according to the diagnostic criteria of American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS). Cases with all 3 symptoms of MD (Vertigo, Tinnitus and lower frequency of sensory-neural hearing loss) were included and those with suspected MD were excluded from study. HLA-Cw allele frequencies were determined in patients non-related healthy controls (N=91) using PCR -SSP. We found that the frequency of HLACw*04 was significantly higher in patients compared to the controls [= 0.0015, OR; 20, 95% CI (3.7-196.9)]. Our results revealed that HLA-C is a genetic predisposing factor in definite MD in patients who refer to Amir-Alam otolaryngology tertiary referral center. [ABSTRACT FROM AUTHOR]

Background: Based on the reports, high frequency of special alleles of HLA class II genes might be associated with susceptibility to or protective from a particular cancer. These alleles might vary depending on the geographical region. Here we investigate the association between alleles of HLA class II genes and breast cancer in Iranian women. Methods: 100 patients with pathologically proved breast cancer who referred to Cancer Institute, Tehran University of Medical Sciences in Tehran, Iran, were divided to two groups based on ages (40 years old and less/ or more than 40 years old) and were randomly selected and compared with a group of 80 healthy blood donor subjects. HLA class II alleles were determined by amplification of DNA with polymerase chain reaction (PCR) method followed by HLA-typing using sequence-specific primer (SSP) for each allele. Results: The most frequent alleles in the DR and DQ regions in group 1 (40 years old and less) in comparison with control group were HLA-DQA1*0301 (p=0.002) and HLADQB1* 0302 (p<0.05). In contrast HLA-DQA1*0505 (p=0.004) had significantly lower frequency in this group compared with control group. Patients of group two (more than 40 years old) had a higher frequencies of HLA-DQA1*0301 (p=0.001) and HLADRB1* 1303 (p=0.02) and a lower frequency of HLA-DQA1*0101 (p=0.002) compared to healthy control. Conclusion: These findings provide information of a positive and negative association between certain alleles of HLA class II and breast cancer in our population and also might support that the pattern of inheritance in the early and late onset of breast cancer differ substantially. [ABSTRACT FROM AUTHOR]

Objective: Papillary thyroid carcinoma (PTC) is the most frequent types of thyroid malignancies. Several genes may be involved in susceptibility of thyroid cancer including Human Leukocyte Antigens (HLA). The association of thyroid carcinoma with HLA alleles has been previously studied in other populations and certain HLA alleles were shown to be either predisposing or protective. The aim of this study was to determine the association between HLA-C allele frequencies and papillary thyroid carcinoma in an Iranian population. Design: HLA-Cw allele frequencies were determined in patients with papillary thyroid carcinoma (N = 54) and non-related healthy controls (N = 91) using PCR-SSP. Main Outcome: We found that HLACw*4 and HLACw*15 allele frequencies were significantly higher in our patients compared to the controls [P = 10^{-4}, OR; 12.5, 95% CI 2.6–116.9) and [P = 10^{-4}, OR; 24.7, 95% CI (3.6–1058) respectively]. Coclusions: Our results revealed certain HLA-C alleles are predisposing factors in papillary thyroid carcinoma in Iranian population. This confirms the previous findings for association between HLA-C alleles and differentiated carcinomas in other populations. [ABSTRACT FROM AUTHOR]

Gorgan (Iran) have been studied for HLA-A, -B, -C, -DRB1 and -DQB1 genes for the first time. They are Turkmen and originated in East Asia around Altai Mts; they originally spoke a Turk language classified within the Turkish-Oguz group. Peripheral blood samples were collected from Gorgan City (Iran) and HLA typed by standard methodology. HLA allele frequencies were compared with 7984 chromosomes of other World populations and it was shown existence of admixture of Siberian and Mediterranean HLA characters in this population, probably due to longlasting contact with Persians. Three new HLA extended haplotypes were found: A*01:01-B*35:01-DRB1*03:01-DQB1*02:01, A*30:01-B*13:01-DRB1*15:01-DQB1*02:01 and A*31:01-B*35:01-DRB1*15:01-DQB1*03:01. Gorgan (Iran) were most close to Chuvashians (Noth Caspian Sea, Russia) and Siberians, like Tuvinians, Mansi and Buryats in Neighbour Joining and Vista analyses. It is established a relationship of this population with Kurgan (Gorgan, Iran) archaeological mounds culture. However, their kinship with Scythians (2nd century BC) and Sarmatians (4th century AD) is obscure although both of them spoke a Persian language. [ABSTRACT FROM AUTHOR]

Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired immunological disorder. Although the precise pathoetiology of CIDP has not been clarified yet, it is believed that both B and T cells of immune system contribute in this disorder. Based on the importance of human leukocyte antigen (HLA) cluster in the regulation of immune responses, this family of proteins is putative determinants of risk of CIDP. We conducted the current investigation to appraise association between HLA alleles/genotypes/haplotypes and risk of CIDP in Iranian patients. HLA-DQB1*02 allele was significantly more prevalent among cases compared with controls (OR [95% CI] = 4.82 [2.06, 11.3], P value = 0.000215, adjusted P value = 0.0124). A*01-B*52-C*12-DRB1*15-DQB1*02 and A*23-B*35-C*04-DRB1*11-DQB1*03 haplotypes with frequency of 0.03 were the most frequent HLA haplotypes. These haplotypes were not detected among healthy controls. The present study introduces HLA-DQB1*02 allele as a risk allele for CIDP among Iranian patients and further supports the importance of HLA region in this immunological condition., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background: HLA genotyping is a prerequisite for selection of suitable donors in the process of bone marrow transplantation., Methods: In the current study, the frequencies of HLA-A, -B, -C and -DRB1 alleles and A-B-C-DRB1 haplotypes were assessed in 855 healthy Iranian persons using a low-resolution sequence specific primer (SSP) kit., Results: Frequencies were compared between 11 subpopulations including Armani, Balouch, Bandari, Turk, Turkaman, Arab, Fars, Kurd, Gilaki, Lor and Mazani. In total, 17 HLA-A alleles were detected, one of which (HLA-A*74) was present only among Lors. HLA-A*23 and -A*26 were the most frequent HLA-A alleles among Armanis. HLA-A*23 was also common among Turkamans. HLA-A*11 and -A*26 were most frequent among the Balouch subpopulation. The former allele was also frequent among Bandaris. HLA-A*02 was identified as the most common HLA-A allele among Turk, Arab and Fars subpopulations. HLA-A*30 were strongly enriched among Gilakis. A total of 31 HLA-B alleles were detected across the target population. While all alleles were present among Fars subgroup, Armanis and Turkamans had the lowest degree of diversity among the alleles examined. Moreover, HLA-B*35 and B*49 alleles were strongly enriched among Armanis and Turkamans, respectively. A total of 13 HLA-C alleles were identified across the population, all of which were present in the Fars subpopulation. HLA-C*03 and C*04 were the only HLA-C alleles identified among the Bandari subpopulation. HLA-DRB1*08 was not detected in any subpopulation other than Fars. HLA-DRB1*16 was significantly enriched among Bandaris. These data have practical significance in anthropological studies, disease association investigations and bone marrow transplantation.

Esophageal squamous cell carcinoma is the 6th most commonly occurring cancer worldwide. A relationship between HLA A1 and B40 and esophageal cancer was described in patients examined in China. The aim of this study was to investigate the relation of HLA class 1 and esophageal carcinoma in the northwestern region of Iran. Using specific monoclonal antibodies, different human leukocyte antigens (HLA) were quantified in 100 patients suffering esophageal carcinoma in Tabriz, a major city located in the Northwestern region of Iran. These data were compared to those of 100 healthy matched individuals as a control group from the same region. HLA B14 and A24 were increased and showed statistically significant correlation in squamous cell carcinoma. These findings may also indicate the association between genetic factors and esophageal carcinoma. Further studies are suggested for detecting correlation of HLA and esophageal carcinoma in other regions. [ABSTRACT FROM AUTHOR]

Human leukocyte antigen (HLA) types were obtained from 79 Iranian patients with multiple sclerosis and compared with 100 controls. The prevalence of HLA-A24 (30.3% versus 18.0%), HLA-DR2 (43.0% versus 28.0%) and HLA-DR15 (36.7% versus 23.0%) were significantly increased in multiple sclerosis patients compared with controls. However age at onset, and disease status (relapsing–remitting or primary progressive) did not show an association with any particular HLA type. Multiple Sclerosis (2000) 6, 317–319. [ABSTRACT FROM AUTHOR]

Celiac disease (CD) is a common autoimmune disease that is manifested by inflammation of the small intestine and varying extra intestinal symptoms, also considered to be associated with human HLA-DQ genes. In this study, 40 patients of CD and 40 healthy control samples were genotyped for HLA-DQB1 and 14 patients of CD and 14 healthy control samples were genotyped for HLA-DQA1genes using the SSP-PCR technique and a commercial kit.The DQA1*05 allele had the highest frequency among the patient group (42.86%). The frequency of this allele was 28.57% in healthy controls, and there was no statistically significant difference in this case (p= 0.771).The DQB1*02 allele was the most common in patients (33.75%) followed by the DQB1*03 allele (31.25%).The difference in frequency of the HLA-DQB1*02 allele in the patient and control groups was statistically significant (P= 0.0002, OR = 4.72). The remarkable differences in the distribution of HLA-DQ2 in Iranian patients compared to controls and relative risks signified the role of these alleles in the development of CD in Iranian patients and confirmed the likelihood of using HLA-DQ typing in the substantiation of the disease.

Background: Osteoarthritis (OA) is a painful social problem, which breaks down the articular cartilage, causes the failure of synovial joints and subchondral bone sclerosis. OA etiology is not completely understood, but joint trauma, infection, obesity, and diseases are the most important risk factors for OA developing. Recent studies suggested inflammatory factors and genetic components can be involved in the pathogenesis of OA. Experimental evidences suggest a linkage between Human Leukocyte Antigen (HLA) genetic diversity and OA. But a few studies have been conducted in this subject., Objective: To investigate the association between HLA-DRB1*0101 and OA in Iranian patients., Methods: Thirty patients with knee osteoarthritis and 30 healthy people as the control group were included in the study. Sex, weight, age, Body mass index (BMI) and height of all participants were recorded. HLA-DRB1*0101 was typed by PCR using the sequence-specific primer., Results: Our results showed 80% of knee osteoarthritis patients were positively HLA-DRB1*0101 (n=24), while only 26.7% of controls were positive (n=8) (P= 0.015)., Conclusion: These findings proposed that there is a significant association between HLADRB1* 0101 and susceptibility to knee osteoarthritis., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Alopecia areata (AA) is characterized by a genetically complex inheritance. HLA frequencies, as well as the single nucleotide polymorphism (SNP) in PTPN22, CTLA4, and IL2RA genes, have been described to be associated with AA susceptibility. So far, no independent replication of these studies has been reported, and no data exist on a possible association between AA disease and these SNPs or influence of HLA frequencies in Iranian population. A possible association between HLA-DRB1*11 alleles as well as a single variation in PTPN22, CTLA4, and IL2RA genes and patchy AA disease have been investigated in a cohort from Iran. Patient and control subjects were genotyped for PTPN22 (rs2476601), CTLA4 (rs3087243), and IL2RA (rs3118470) variations as well as HLA frequencies. Gene expression levels were analyzed by real-time RT-PCR. In contrast to PTPN22 and CTLA4 gene polymorphisms, a significant association was found between IL2RA SNP and susceptibility to AA in Iranian cohort. While gene expression levels of IL2RA and PTPN22 were higher in the patients than that of controls, CTLA4 expression levels found significantly lower in the patients. Despite a significant association between AA and HLA-DRB1*11 frequencies, the presence of DRB1*11 is not associated with PTPN22, CTLA4, or IL2RA gene SNPs. Although the minor allele in IL2RA SNP can be a significant determinant of AA disease development in Iranian population, reported an association between the PTPN22 and CTLA4 variations was not confirmed by our study. Furthermore, these genetic risk factors might act independently from HLA alleles.

Introduction: Because umbilical cord blood (UCB) allows transplantation of partially matched HLA grafts, it is considered a valuable resource for the treatment of hematologic malignancies and genetic diseases, especially for who lack of a compatible bone marrow donor. This study was designed to determine how many of ethnic groups of Iran can be covered by current public Royan UCB. Materials and Methods: From 2009-2011, 4354 of all collected UCB samples (30%) met the necessary criteria for storage and were cryopreserved in public Royan UBC bank, Tehran, Iran. Parental demographic information was collected and a written informed consent has obtained from each family based on their willingness to public donation of the UCB cells. HLA-A, B and DRB1 were typed for 1454 samples. Results: The mean volume of the samples was 83±40.7 mL with a range of 14-1200×107 nucleated cells in different samples. The most common HLA alleles were HLA-A"2 (17%) and "24 (15.4%); HLA-B"35 (16-5%) and "51 (13.3%), and HLA-DR"11 (19.6%) and "15 (14.4%). HLA-A"24-B"35-DR"11 (1.9%), HLA-A"02-B"50-DR"07 (1.9%), and HLA-A"02-B"51-DR"11 (1.6%) were the predominant haplotypes. Conclusion: Based on the broad therapeutic potential of hematopoietic stem cells (HSCs) and mesenchymal stem cells (MSCs), UCB can be considered the main source of different stem cells for cell-based therapy against various disorders. Based on HLA-DRB1 profiles, the current public Royan UCB bank can potentially be considered a proper resource for HSCs transplantation for Iranian recipients from Parsees and Zoroastrians. Regular educational programs for improving public knowledge about UCB advantages in transplantation can be effective to enrich this source as cover all Iranian ethnic groups in near future. [ABSTRACT FROM AUTHOR]

HLA class I and II alleles have been studied in a population from Gorgan (North East Iranian city bordering Turkmenistan). This population is composed of mainly Turkmen who speak Oghuz Turkish language. Comparison of Gorgan people HLA profile has been carried out with about 7984 HLA chromosomes from other worldwide populations; extended haplotypes and three dimension genetic distances have been calculated by using neighbor-joining and correspondence relatedness analyses. Most frequent extended HLA haplotypes show a Siberian/Mediterranean admixture and closest populations are Chuvashians (North Caspian Sea, Russia) and other geographically close populations like Siberian Mansi, Buryats and other Iranians. New extended HLA haplotypes have been found, such as: A*31:01-B*35:01-DRB1*15:01-DQB1*03:01, A*01:01-B*35:01-DRB1*03:01-DQB1*02:01. Relationships of Turkmen with Kurgan (Gorgan) archaeological mounds, Scythians and Sarmatians are discussed. This study is also useful for a future transplantation Gorgan waiting list, Gorgan HLA and disease epidemiology and HLA pharmacogenomics.