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Use este identificador para citar ou linkar para este item: https://repositorio.ufba.br/handle/ri/12073
Tipo: Artigo de Periódico
Título: Sequencing of the ST2 Gene Reveals a Haplotype That Determines Serum Total ST2 Levels in Individuals of African Ancestry
Título(s) alternativo(s): Journal of Allergy and Clinical Immunology
Autor(es): Huang, Lili
Gao, Li
Figueiredo, Camila
Rafaels, Nicholas M.
Vergara, Candelaria I.
Ruczinski, Ingo
Beaty, Terri H.
Barnes, Kathleen C.
Mathias, Rasika A.
Autor(es): Huang, Lili
Gao, Li
Figueiredo, Camila
Rafaels, Nicholas M.
Vergara, Candelaria I.
Ruczinski, Ingo
Beaty, Terri H.
Barnes, Kathleen C.
Mathias, Rasika A.
Abstract: Rationale ST2 (IL1RL1), is an IL1 family receptor that mediates important effectors of Th2 functions. Its soluble form (sST2) neutralizes its ligand, IL-33, by acting as a decoy receptor. Serum sST2 has been used as a biomarker for disease severity and outcome for multiple inflammatory and lung diseases, including atopic asthma. We undertook a targeted deep resequencing of ST2 gene in 241 samples of African ancestry to identify ST2variants controlling serum sST2 levels. Methods Serum sST2 concentration was measured by ELISA, and resequencing of ∼50kb (chr2:102922962-102973497) encompassing the ST2gene was performed using Illumina's HiSeq2000. Single-variant tests for all common variants (MAF≥5%) were performed using linear regression assuming an additive model on log serum total ST2 considering age, gender and the first two principal components on a pre-existing genome-wide association panel of ancestry informative markers to adjust for admixture. Results A total of 565 ST2 variants were identified, 192 of which had a MAF≥5% including 3 coding synonymous and 6 missense variants. In the sST2 level analysis, ten SNPs in strong linkage disequilibrium yielded p-value less than 10-3; a single common haplotype (frequency=65%) across all 10 SNPs yielded an overall p-value = 0.0002 and was negatively associated with sST2 levels (β = -0.09). Conclusions Sequencing ST2 gene revealed a novel haplotype influencing sST2 levels in individuals of African ancestry, including 5 variants mapping to intron 1 and 5 mapping to the 5’ region of ST2. Further work is ongoing to fully explore this association in an additional 400 subjects of African ancestry.
Editora / Evento / Instituição: Journal of Allergy and Clinical Immunology
URI: http://www.repositorio.ufba.br/ri/handle/ri/12073
Data do documento: 2013
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