Sclerosis multiplex in gypsies.

Area of Science:

• Immunogenetics
• Neurology
• Population Genetics

Background:

• Multiple sclerosis (MS) exhibits unusual prevalence patterns in specific populations, such as its rarity in Hungarian gypsies despite high human leukocyte antigen (HLA) DR2 frequencies.
• Clinical presentations of MS in gypsies differ from Central Europeans, resembling Asian phenotypes, indicating potential unique genetic underpinnings.

Purpose of the Study:

• To investigate the correlation between clinical observations of MS in gypsies and Hungarians and their immunogenetic data.
• To examine the distribution of human leukocyte antigen (HLA) DQw1 subtypes using Eco RV - DQ beta RFLP in DR2-positive healthy individuals and MS patients from both gypsy and Hungarian populations.

Main Methods:

• Human leukocyte antigen (HLA) DQw1 subtypes were analyzed using Eco RV - DQ beta RFLP (Restriction Fragment Length Polymorphism).
• Genotyping was performed on DR2-positive healthy gypsies and Hungarians, as well as DR2-positive Hungarian and unselected gypsy MS patients.
• Complement allotypes, specifically C4A Q0, were assessed in both groups.

Main Results:

• The DQw6 allotype was significantly correlated with MS susceptibility in Hungarians.
• DQw6 was completely absent in healthy DR2-positive gypsies but present in DR2-positive gypsy MS patients.
• No correlation was found between complement allotypes and MS occurrence in Hungarians. However, a striking elevation of C4A Q0 was observed in gypsy MS patients compared to healthy gypsies.

Conclusions:

• The absence of the DR2, DW2, DQw6 haplotype and the presence of C4A Q0 in healthy gypsies may contribute to the low prevalence of MS in this population.
• While specific HLA haplotypes and complement allotypes appear associated with MS risk, genetic factors beyond these regions likely also influence MS susceptibility in diverse populations.