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Role of toll-interacting protein gene polymorphisms in leprosy Mexican patients
Margarita Montoya-Buelna1, Mary Fafutis-Morris, Alvaro J Tovar-Cuevas
1Centro Universitario de Tonalá, Universidad de Guadalajara, Tonalá, Jal., Mexico ; Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jal., Mexico.
Background:
Leprosy is a debilitating infectious disease of human skin and nerves. Genetics factors of the host play an important role in the disease susceptibility. Toll-interacting protein (TOLLIP) is an inhibitory adaptor protein within the toll-like receptor (TLR) pathway, which recognizes structurally conserved molecular patterns of microbial pathogens, initiating immune responses. The objective of this study was to investigate the association of variants in the TOLLIP gene with susceptibility to leprosy in Mexican patients.
Methods:
TOLLIP polymorphisms were studied using a case-control design of Mexican patients with lepromatous leprosy (LL). The polymorphisms of TOLLIP at loci -526 C>G (rs5743854), 1309956C>T (rs3750920), 1298430C>A (rs5744015), and 1292831 G>A (rs3750919) were analyzed by PCR, with sequence-specific primers in LL patients and healthy subjects (HS) as controls.
Results:
Genotype distributions were in Hardy Weinberg equilibrium for all sites except for rs3750920. Neither genotype nor allele frequencies were statistically different between LL patients and controls (P > 0.05). The maximum pairwise D' coefficient reached was 0.44 of linkage (P = 0.01) for all the polymorphisms except for rs5743854. The three loci haplotype comparison yielded no significant differences between groups.
Conclusions:
Just the individuals with genotype C/C of rs3750920 have a trend of protective effect to developing LL.
Insights
Genetic factors influence leprosy susceptibility. A study found that the Toll-interacting protein (TOLLIP) gene variant rs3750920 C/C genotype may offer a protective effect against lepromatous leprosy in Mexican patients.
Area of Science:
- Immunogenetics
- Infectious Diseases
- Human Genetics
Background:
- Leprosy is a significant infectious disease affecting skin and nerves, with host genetic factors influencing susceptibility.
- The Toll-interacting protein (TOLLIP) gene is crucial in the Toll-like receptor (TLR) pathway, regulating immune responses to pathogens.
Purpose of the Study:
- To investigate the association between Toll-interacting protein (TOLLIP) gene variants and susceptibility to leprosy in a Mexican population.
Main Methods:
- A case-control study was conducted on Mexican patients with lepromatous leprosy (LL) and healthy subjects (HS).
- TOLLIP gene polymorphisms at rs5743854, rs3750920, rs5744015, and rs3750919 were analyzed using PCR with sequence-specific primers.
Main Results:
- Genotype distributions adhered to Hardy Weinberg equilibrium, except for rs3750920.
- No statistically significant differences in genotype or allele frequencies were observed between LL patients and controls (P > 0.05).
- Linkage analysis showed a maximum pairwise D' coefficient of 0.44 (P = 0.01) for polymorphisms, excluding rs5743854; haplotype comparisons revealed no significant intergroup differences.
Conclusions:
- A trend suggests that individuals with the rs3750920 C/C genotype may have a protective effect against developing lepromatous leprosy (LL).
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