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Microbiota Analysis Using Two-step PCR and Next-generation 16S rRNA Gene Sequencing
Published on: October 15, 2019
Analysis of HLA DR2&DQ6 (DRB1*1501, DQA1*0102, DQB1*0602) haplotypes in Iranian patients with multiple sclerosis
Mojdeh Ghabaee1, Asghar Bayati, Shahla Amri Saroukolaei
1Department of Neurology, Iranian Center of Neurological Research, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran. ghabaeem@tums.ac.ir
Abstract:
Multiple sclerosis (MS) is prototype of inflammatory demyelinating disease of the central nervous system .The etiology of MS remains unclear, but according to current data the disease develops in genetically susceptible individuals and may require additional environmental triggers. The human leukocyte antigen (HLA) class II alleles (DRB1*1501, DQA1*0102, DQB1*0602) may have the strongest genetic effect in MS. In this study, the role of these alleles were investigated in 183 Iranian patients with multiple sclerosis and compared with 100 healthy individuals. HLA typing for DRB1*1501, DQA1*0102, DQB1*0602 was performed by polymerase chain reaction (PCR) amplification with sequence-specific primers (PCR-SSP) method. The results show that, HLA DR B1*1501 was significantly more frequent among MS patients (46% vs. 20%, PV = 0.0006) but DQA1*0102 haplotype was negatively associated with MS (30% vs. 50%, PV = 0.0049) and no significant association was found with DQB1*0602 and MS patients in comparison with control group (24% and 30%, PV = 0.43). No significant correlation was observed among these alleles with sex, type of disease; initial symptoms, expanded disability status scale (EDSS), as well as age at onset and familial MS. This study therefore indicates that there is no association of above HLA haplotypes with clinical presentation, disease duration, and disability in Iranian patients with MS which is in line with other previous studies in different ethnic groups.
Insights
Human leukocyte antigen (HLA) DRB1*1501 is more frequent in Iranian multiple sclerosis (MS) patients, while DQA1*0102 is negatively associated. These HLA alleles do not correlate with MS clinical presentation or disease severity.
Area of Science:
- Immunogenetics
- Neurology
- Human Genetics
Background:
- Multiple sclerosis (MS) is a central nervous system inflammatory demyelinating disease with unclear etiology.
- Genetic susceptibility, particularly involving human leukocyte antigen (HLA) class II alleles, is implicated in MS development.
- Specific HLA alleles like DRB1*1501, DQA1*0102, and DQB1*0602 are hypothesized to play a significant role.
Purpose of the Study:
- To investigate the association of HLA class II alleles (DRB1*1501, DQA1*0102, DQB1*0602) with multiple sclerosis in an Iranian population.
- To compare the frequency of these HLA alleles in Iranian MS patients versus healthy controls.
- To explore potential correlations between these HLA alleles and clinical parameters of MS.
Main Methods:
- Case-control study involving 183 Iranian patients with multiple sclerosis and 100 healthy controls.
- Human leukocyte antigen (HLA) typing performed using polymerase chain reaction (PCR) amplification with sequence-specific primers (PCR-SSP) for DRB1*1501, DQA1*0102, and DQB1*0602 alleles.
- Statistical analysis to determine allele frequencies and associations with MS and clinical characteristics.
Main Results:
- HLA DRB1*1501 was significantly more frequent in MS patients (46%) compared to controls (20%) (PV = 0.0006).
- The DQA1*0102 haplotype showed a negative association with MS (30% in patients vs. 50% in controls) (PV = 0.0049).
- No significant association was found for DQB1*0602 with MS (24% vs. 30%, PV = 0.43), nor were significant correlations observed between these HLA alleles and sex, disease type, initial symptoms, EDSS, age at onset, or familial MS.
Conclusions:
- The HLA DRB1*1501 allele is associated with an increased risk of multiple sclerosis in the Iranian population.
- The HLA DQA1*0102 haplotype appears to have a protective effect against multiple sclerosis in this cohort.
- The investigated HLA haplotypes (DRB1*1501, DQA1*0102, DQB1*0602) are not associated with the clinical presentation, disease duration, or disability levels in Iranian patients with MS.
