Association of IL-4 (intron 3) and IL-10 (-1082) gene polymorphisms with risk of mitral valve disease in children with rheumatic heart disease.
Aim Rheumatic heart disease is an inflammatory disease of cardiac tissue. The underlying pathogenic mechanisms highlight a complex interplay of immunological, genetic, and environmental factors. The aim of the present study was to investigate whether IL-4 (intron 3) and IL-10 (-1082) gene polymorphisms could be associated with susceptibility and/or severity of rheumatic heart disease among patients from the Egyptian population. Materials and methods A cohort of 140 Egyptian children with rheumatic heart disease and 100 healthy controls were enrolled in this case-control study. Genotyping for IL-4 (intron 3) and IL-10 (-1082) gene polymorphisms was carried out for all patients using a polymerase chain reaction-based analysis.


RESULTS
No significant difference in the distribution of genotypes and allelic frequencies between rheumatic heart disease cases and controls for IL-4 (intron 3) (p=0.17; OR 1.07, 95% CI 0.82-3.74) and IL-10 (-1082) (p=0.49; OR 1.03, 95% CI 0.65-2.71) gene polymorphisms was observed. Further categorisation of patients into mitral valve disease and combined valve disease subgroups showed that cases with mitral valve disease have significantly higher frequency of the RP2 allele of IL-4 (intron 3) (p=0.03; OR 2.98, 95% CI 1.93-6.15) and the G allele of IL-10 (-1082) (p=0.04; OR 2.14, 95% CI 1.62-4.95) when compared with controls. Discussion Our study shows that IL-4 (intron 3) and IL-10 (-1082) gene polymorphisms are not significantly associated with susceptibility to rheumatic heart disease, but they might play a role in the pathogenesis of patients with mitral valve disease.
1Department of Clinical Pathology,Cairo University,Giza,Egypt.
Sherif M
SM
Yousry
2Department of Pediatrics,Cairo University,Giza,Egypt.
Yasser
Y
Sedky
2Department of Pediatrics,Cairo University,Giza,Egypt.
Alaa
A
Sobieh
D000293:Adolescent; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004534:Egypt; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D016753:Interleukin-10 / Q000235:genetics*; D015847:Interleukin-4 / Q000235:genetics*; D008297:Male; D008944:Mitral Valve Insufficiency / Q000235:genetics*; D011110:Polymorphism, Genetic; D012214:Rheumatic Heart Disease / Q000150:complications*
C508609:IL10 protein, human; C508598:IL4 protein, human; D016753:Interleukin-10; D015847:Interleukin-4
IL-10; IL-4; Rheumatic heart disease; mitral valve disease; polymerase chain reaction