title: Polymorphism in the promoter of the CCL5 gene (CCL5G-403A) in a cohort of North Indian children with Kawasaki disease. A preliminary study.
abstract: OBJECTIVE
  Kawasaki disease (KD) is a common vasculitic disorder and a leading cause of acquired heart disease in children. However, there is a paucity of information on KD from developing countries. The clinical phenotype of KD in India is different from that in the West. In this study, we investigated the association of a promotor gene variant of chemokines like chemokine ligand 5 (CCL5) and a deletion in chemokine receptor CCR5 (which is a common receptor for CCL5, macrophage inhibitory protein 1α and 1β), in a cohort of North Indian children with KD.
  
  
  METHODS
  CCL5 G-403A and CCR5Del 32 gene variants were genotyped in the KD cohort (n=40) and in healthy controls (n=100) using the PCR-RFLP assay. Logistic regression analysis was performed in order to examine the association of these variants with KD, with special reference to those with direct (on echocardiography) or indirect (on myocardial scintigraphy) evidence of coronary involvement.
  
  
  RESULTS
  No significant difference in genotype or allele frequency of CCL5 G-403A variant was observed between patients and controls. However, patients with evidence of coronary involvement had a higher frequency of the minor allele CCL5 -403A (p<0.004; OR- 2.25, 95%CI: 1.13-4.46). CCR5 Del 32 variant was found to be monomorphic (minor allele frequency <0.05) in our cohort.
  
  
  CONCLUSIONS
  CCL5 -403A variant may be associated with coronary involvement in North Indian children with KD. Our results, however, have to be replicated on a larger sample before any definitive conclusions can be drawn.
authors.affiliation: Pediatric Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Kaustabh
authors.initials: K
authors.lastname: Chaudhuri
authors.forename: Tarunveer
authors.initials: T
authors.lastname: Singh Ahluwalia
authors.forename: Surjit
authors.initials: S
authors.lastname: Singh
authors.forename: Gursonika
authors.initials: G
authors.lastname: Binepal
authors.forename: Madhu
authors.initials: M
authors.lastname: Khullar
mesh_terms: D044466:Asian People / Q000235:genetics*; D018946:Chemokine CCL5 / Q000235:genetics*; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D003324:Coronary Artery Disease / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000276:immunology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India / Q000453:epidemiology; D016015:Logistic Models; D008297:Male; D009080:Mucocutaneous Lymph Node Syndrome / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000276:immunology; D016017:Odds Ratio; D010641:Phenotype; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D019713:Receptors, CCR5 / Q000235:genetics; D018570:Risk Assessment; D012307:Risk Factors; D017384:Sequence Deletion
chemical_list: C483024:CCL5 protein, human; D018946:Chemokine CCL5; D019713:Receptors, CCR5