Polymorphism in osteopontin gene (SPP1) is associated with asthma and related phenotypes in a puerto rican population

Mehrdad Arjomandi*, Josh M. Galanter, Shweta Choudhry, Celeste Eng, Donglei Hu, Kenneth Beckman, Rocío Chapela, José R. Rodríguez-Santana, William Rodríguez-Cintrón, Jean Ford, Pedro C. Avila, Esteban G. Burchard

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


Recent studies have shown that osteopontin, a cytokine with suggested immunoregulatory functions, may contribute to pathogenesis of asthma. To determine whether single-nucleotide polymorphisms (SNPs) in SPP1, the gene encoding osteopontin, are associated with risk of asthma, we genotyped 6 known SNPs in SPP1 in the well-characterized Genetics of Asthma in Latino Americans population of 294 Mexican and 365 Puerto Rican parent-child asthma trios. The associations between SNPs and asthma or asthma-related phenotypes were examined by transmission disequilibrium tests as implemented in the family-based association test program. Three polymorphisms, 1 in exon 7 (rs1126616C) and 2 in the 3′-untranslated region (rs1126772A and rs9138A) of SPP1, were associated with diagnosis of asthma, severity of asthma, asthma in subjects with elevated immunoglobulin E (IgE) (IgE >100 IU/mL), and postbronchodilator FEV 1 in Puerto Ricans (P values=0.00007-0.04). The CC genotype of rs1126616 conferred an odds ratio of 1.7 (95% CI=[1.3, 2.3], P value adjusted for multiple comparisons=0.001) for asthma compared with the CT and TT genotypes. Furthermore, haplotype analysis identified rs1126616C-rs1126772A- rs9138A to be associated with an increased risk for asthma, severity of asthma, and asthma in subjects with elevated IgE (P=0.03). There was no association between the SPP1 SNPs and asthma outcomes in Mexicans. Our findings suggest that the SPP1 gene is a risk factor for asthma and asthma-related phenotypes in Puerto Ricans, and are consistent with previous animal and human studies on the role of osteopontin in pathogenesis of asthma.

Original languageEnglish (US)
Pages (from-to)207-214
Number of pages8
JournalPediatric, Allergy, Immunology, and Pulmonology
Issue number4
StatePublished - Dec 1 2011

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Pediatrics, Perinatology, and Child Health
  • Immunology and Allergy


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