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Microbiota Analysis Using Two-step PCR and Next-generation 16S rRNA Gene Sequencing
Published on: October 15, 2019
Evidence for novel DRB1*15 allele association among clinically definite multiple sclerosis patients from Mumbai,
Sharada Kankonkar1, G Jeyanti, B S Singhal
1Tissue typing Laboratory, PG Institute of Medical Sciences, Bombay Hospital, Mumbai, India. kankonkar@yahoo.com
Abstract:
Multiple sclerosis (MS) is a clinically heterogeneous demylinating disease and an important cause of acquired neurologic disability. MS has been reported from different regions of India and its infrequency has been attributed to have genetic implications. Further, a high incidence of MS and its human leukocyte antigen B12 (HLA-B12) associations have been reported among highly inbred Parsi population from Mumbai. However, consistent HLA associations have not been reported from India. We analyzed the HLA-B, -Cw, and -DRB1 allele associations among 23 clinically definite Western Indian non-Parsi MS patients and compared them with 146 ethnically matched clinically normal individuals. HLA serologic (A, B, and Cw) as well as molecular (DRB1) typing methodology was followed. The study revealed a significant increase of HLA-A11 (24% vs. 13%; OR = 2.6; EF = 0.14; 95%CI = 1.1-3.05), B16 (4.3% vs 0.3%; OR = 13.8; EF = 0.03; 95% CI = 1.19-134.44), Cw7 (15.2% vs 3.7%; OR = 5.46; EF = 0.12; 95% CI = 0.944-17.86), and DRB1*15 (21.7% vs 2.2%; OR = 16.15; EF = 0.19; 95% CI = 1.33-68.64). Further molecular subtyping of HLA-DRB1*15 among the patients revealed two novel alleles, DRB1*1506 (20%) and DRB1*1508 (30%), along with the commonly reported DRB1*1501 (50%) for the first time in MS patients that were hitherto unidentified from other parts of India and world as well. This study reveals that there is a complexity of the genetic susceptibility to MS in different populations studied and reported.
Insights
Genetic factors influence multiple sclerosis (MS) risk in Western India. Specific human leukocyte antigen (HLA) alleles, including novel subtypes of DRB1*15, show significant associations with MS in this non-Parsi population.
Area of Science:
- Neuroimmunology
- Human Genetics
- Population Genetics
Background:
- Multiple sclerosis (MS) is a demyelinating disease causing neurological disability, with varying incidence globally.
- Genetic factors are implicated in MS susceptibility, but consistent human leukocyte antigen (HLA) associations in India remain elusive.
- Previous studies in the Parsi population of Mumbai suggested HLA associations, highlighting the need for research in other Indian ethnic groups.
Purpose of the Study:
- To investigate human leukocyte antigen (HLA) allele associations with multiple sclerosis (MS) in a Western Indian non-Parsi population.
- To identify specific HLA-B, -Cw, and -DRB1 alleles that may confer susceptibility or resistance to MS in this demographic.
- To explore novel HLA-DRB1*15 subtypes in Indian MS patients.
Main Methods:
- Collected blood samples from 23 clinically definite Western Indian non-Parsi MS patients and 146 ethnically matched healthy controls.
- Performed HLA serologic typing for A, B, and Cw loci.
- Conducted molecular typing for HLA-DRB1 alleles, including subtyping for DRB1*15.
Main Results:
- Significant associations were found between MS and HLA-A11 (OR=2.6), HLA-B16 (OR=13.8), HLA-Cw7 (OR=5.46), and HLA-DRB1*15 (OR=16.15).
- Molecular subtyping of HLA-DRB1*15 revealed the presence of DRB1*1501, and for the first time in MS patients globally, novel alleles DRB1*1506 and DRB1*1508.
- These findings indicate a distinct genetic susceptibility profile for MS in this population compared to other reported groups.
Conclusions:
- The genetic architecture of multiple sclerosis susceptibility is complex and population-specific.
- Specific HLA alleles, including novel DRB1*15 subtypes, are significantly associated with MS in Western Indian non-Parsi individuals.
- Further research is warranted to elucidate the role of these genetic markers in MS pathogenesis across diverse populations.
