Background: Multiple sclerosis (MS) is a demyelinating, autoimmune and neurodegenerative disease of the central nervous system (CNS). The pathogenesis of this disease is still unknown, although there are evidences of environmental factors affecting subjects with genetic predisposition factors. The contribution of HLA-DRB1*1501 to MS risk has been replicated and confirmed in most population-based studies. Since there are no data with respect to the association of HLA-DRB1*1501 and MS in Khuzestan province. Objectives: The aim of this study was to investigate the correlation of this allele with MS in Khuzestan province. Methods: In this case-control study, DRB1*1501 allele was analyzed by polymerase chain reaction with sequence-specific primers (PCR-SSP) in 200 MS patients and 200 unrelated healthy individuals, without any autoimmune disease from the same geographical region. The frequencies of the mentioned allele were compared between the patients and control group using SPSS 16 statistical software and the chi square test. Results:The results demonstrated that distribution of DRB1*1501 allele was statistically different between patient and control (41.5% vs. 22.81%, P < 0.001); significant correlation was observed among these allele with both Arab (28.84% vs. 50.84%, P = 0.005) and Persian (15.87% vs. 35.55%, P = 0.018) ethnicities; although no association was revealed between mentioned allele and disease clinical course (relapsing-remitting, secondary-progressive, progressive-relapsing and primary-progressive), expanded disability scale score (EDSS) and gender. Conclusions:The study presents association of susceptibility to multiple sclerosis in southwest of Iran with HLA-DRB1*1501 allele in both Arab and Persian ethnic; although DRB1*1501 may be is not involved in the pathogenesis of different MS disease subtypes. The results are consistent with most of the other studies in Iran; and also most studies in European populations.

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Introduction: There is accumulating evidence that the MHC gene variants are associated with some autoimmune disease. This recent publication on MHC population frequencies included a number of tables characterizing the frequency alleles and haplotypes in Khuzestan province. Identification of HLA alleles is helpful in anthropological, transplantation and disease studies, Investigating the frequency and association of HLA-DRB1*1501, -DQA1*0102, -DQB1*0602, -DRB5*01 and -A*0301 alleles and haplotypes in normal population according to gender and ethnicity, were the aim of this study. Methods:The frequency distribution of HLA DRB1*1501, DQA1*0102, DQB1*0602, DRB5*01 and A*0301 were studied in Iranian normal population of Khuzestan province analyzing by polymerase chain reaction using specific sequence primers (PCR-SSP) method in 242 healthy blood donors without any disease. We also examined the relationship of genotypes with gender and ethnic. Results: DRB1*1501 as the most frequent DRB allele had frequency of 42.85%. In contrast, the allelic frequency of DRB5*01 was very low (21.5%). In the HLA alleles DQA1*0102 was the most prevalent variant (71%). fifty percent of the population was positive with DQB1*0602 allele. Interestingly, it was found that DQA1*0102 +-DRB5*01 -haplotype was associated with gender and this haplotype was associated with ethnicity, too. The most frequent two, three, four and five allelic haplotypes were DRB5*01 Conclusions:The results of allele frequencies are consistent with some other studies. Our recent study gives a new insights into the immunogenetic map and HLA genetic profile of normal population in Khuzestan province, southwest of Iran, confirming the DQA1*0102 +-DRB5*01 -haplotype association with sex and ethnicity in a previously unreported population. So our results encourage future research to investigate the potential functional relevance of these haplotypes.

Background: One of the demyelinating and inflammatory diseases of the central nervous system (CNS) is multiple sclerosis (MS). Though pathogenesis of MS is still unknown, both genetic and environmental factors are involved. The human leukocyte antigen (HLA) class-II alleles including HLA-DRB5*01, DQB1*0602, DRB1*1501, and DQA1*0102 may have remarkable effect in MS risk although it is controversial in studies. As there is no data with respect to the HLA-DRB1*1501-DRB5*01 correlation with MS in Khuzestan Province, Iran, the goal of the survey was to investigate the association of this haplotype with MS in this population. Methods: The study focused on DRB5*01-DRB1*1501 haplotype association with MS in 200 patients and 200 healthy individuals. Typing of HLA was carried out by polymerase chain reaction (PCR) amplification with sequence-specific primers (SSP) method. SPSS software was used for the statistical analyses. Results:  No association between DRB5*01+-DRB1*1501+ and MS was found (P = 0.156). Distribution of DRB1*1501+-DRB5*01- (carrying DRB1*1501+ but not DRB5*01-) and DRB1*1501--DRB5*01- haplotypes was statistically different between patients and controls (29.73% vs. 11.81%, P < 0.001) and (42.16% vs. 68.50%, P < 0.001), respectively. However, DRB1*1501--DRB5*01+ revealed no association with MS (15.13% vs. 11.81%, P = 0.403). HLA-DRB1*1501--DRB5*01+ was significantly more frequent among female  patients with MS (16.19% vs. 6.12%, P = 0.019) and Persian group (17.11% vs. 5.79%, P = 0.027). Positive correlation of HLA-DRB1*1501+-DRB5*01- haplotype with the expanded disability status scale (EDSS) steps from 5 to 10 was observed (62.50% vs. 25.76%, P = 0.026). Moreover, no meaningful association was shown among the haplotypes with EDSS, course of MS, ethnicity, and gender. Conclusion: Our findings suggest that DRB1*1501+-DRB5*01- and DRB1*1501--DRB5*01- haplotypes may have positive association with MS risk. Also, this survey indicates that HLA-DRB1*1501--DRB5*01+ is involved in susceptibility of the disease among women and Persians. DRB1*1501+-DRB5*01- genotype frequency may have a key role in MS developing.

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