The polymorphisms of protein-tyrosine phosphatase receptor-type delta gene and its association with pediatric asthma in the Taiwanese population

• Published in: European journal of human genetics : EJHG Vol. 16; no. 10; pp. 1283 - 1288
• Main Authors: Shyur, Shyh-Dar, Wang, Jiu-Yao, Lin, Cherry Guan-Ju, Hsiao, Ya-Hsin, Liou, Ya-Huei, Wu, Ying-Jye, Wu, Lawrence Shih-Hsin
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.10.2008; Nature Publishing; Nature Publishing Group
• Subjects: Alleles; Amino acids; Asian Continental Ancestry Group - genetics; Asthma; Asthma - enzymology; Asthma - genetics; Bioinformatics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Cell cycle; Child; Child, Preschool; Children; Chromosomes; Chronic obstructive pulmonary disease, asthma; Cytogenetics; DELTA protein; Demography; Fundamental and applied biological sciences. Psychology; Gene Expression; Gene frequency; General aspects. Genetic counseling; Genes; Genetic Predisposition to Disease; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genomes; Genomics; Genotyping; Haplotypes; Hospitals; Human Genetics; Humans; Hypersensitivity - genetics; Lung cancer; Medical genetics; Medical sciences; Molecular and cellular biology; Odds Ratio; Pediatrics; Phenotype; Phosphatase; Pneumology; Polymorphism, Single Nucleotide - genetics; Population; Product development; Protein-tyrosine-phosphatase; Proteins; Receptor-Like Protein Tyrosine Phosphatases, Class 2 - genetics; Reproducibility of Results; Single-nucleotide polymorphism; Taiwan; Tyrosine; Asia; Taiwan; PTPRD; SNPs; allergy; pediatric asthma; association study; Human; Immunopathology; Lung disease; Allergy; Enzyme; Respiratory disease; Phosphoric monoester hydrolases; Esterases; Asthma; Association; Gene; Hydrolases; Bronchus disease; Genetics; Population; Obstructive pulmonary disease; Single nucleotide polymorphism; Child; Protein-tyrosine-phosphatase; Biological receptor
• ISSN: 1018-4813; 1476-5438
• DOI: 10.1038/ejhg.2008.79

We previously reported an association between genetic differences of pediatric asthma subtypes and a short tandem repeat (STR) marker, D9S286. It has been known that the protein-tyrosine phosphatase receptor-type delta (PTPRD) gene is located downstream of D9S286 and that the physical distance between them is about 0.25 Mb. We selected and conducted genotyping on 76 single-nucleotide polymorphisms (SNPs) that encircle the genomic region of PTPRD in Taiwanese children with or without asthma. A total of 996 subjects were divided into testing group (674 subjects) and validation group (322 subjects). The results were further validated with the third subject group (611 subjects) recruited from different geographical regions. After Bonferroni correction, 3 out of 80 SNPs were found to be strongly significant ( P <0.05/76=0.000658) in the allele frequency test. This association was confirmed by validation groups. The results indicate that polymorphisms of PTPRD are strongly associated with pediatric bronchial asthma in the Taiwanese population.