Association of polymorphic variants of IL-1ß and IL-1RN genes in the development of Graves' disease in Kashmiri population (North India).
Hum Immunol
; 79(4): 228-232, 2018 Apr.
Article
de En
| MEDLINE
| ID: mdl-29454070
ABSTRACT
PURPOSE:
Graves' disease (GD) is a multigenic, organ specific autoimmune disorder with a strong genetic predisposition and IL-1ß has been shown to be involved in its pathogenesis. The present study was aimed to determine the genetic associations between polymorphisms of IL-1ß gene promoter region (-511â¯T>C) (rs16944), exon 5 (+3954 C>T) (rs1143634) and IL-1RN gene VNTR (rs2234663) polymorphism in patients with GD in ethnic Kashmiri population.METHODS:
A total of 135 Graves' disease patients and 150 healthy individuals were included in the study. PCR and PCR-based restriction analysis methods were done for IL-1RNVNTR and IL-1ß gene polymorphisms respectively.RESULTS:
We found statistically significant increased frequencies of the C/Câ¯+â¯CT genotype (Pâ¯=â¯0.001; odds ratio (OR)â¯=â¯5.04, 95% confidence interval (CI)â¯=â¯3.02-8.42) and the C allele (Pâ¯=â¯0.001; ORâ¯=â¯3.10, 95% CIâ¯=â¯2.14-4.50) in IL-1ß gene promoter polymorphism (rs16944) with GD patients compared to normal controls. Also in the exon 5 (rs1143634), a significant increase in frequency of the C/C homozygous genotype (Pâ¯=â¯0.001; ORâ¯=â¯0.18, 95% CIâ¯=â¯0.11-0.30) and C allele (Pâ¯=â¯0.001; ORâ¯=â¯0.31, 95% CIâ¯=â¯0.20-0.48) was observed in GD cases as against controls. For IL-1RNVNTR (rs2234663), we didn't observe any significant difference in the allelic and genotypic frequencies between cases and controls.CONCLUSION:
Our findings suggest that both promoter and exon polymorphisms of IL-1ß gene have a significant role in the risk of developing GD, whereas IL-1RNVNTR has no association with GD.Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Ethnies
/
Maladie de Basedow
/
Antagoniste du récepteur à l'interleukine-1
/
Interleukine-1 bêta
Type d'étude:
Observational_studies
/
Risk_factors_studies
Limites:
Adolescent
/
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Pays/Région comme sujet:
Asia
Langue:
En
Journal:
Hum Immunol
Année:
2018
Type de document:
Article
Pays d'affiliation:
Inde