title: A new PTGDR promoter polymorphism in a population of children with asthma.
abstract: Recently, functional genetic variants of the PTGDR gene have been associated with asthma. The objective of this work was to study polymorphisms of the promoter region of PTGDR and their haplotype and diplotype combinations in a Spanish population of children with asthma. In this study, 200 Caucasian individuals were included. Asthma was specialist-physician diagnosed according to the ATS criteria. The polymorphisms were analyzed by direct sequencing. In the study, the new polymorphism (-613C > T) in the promoter region of PTGDR was analyzed. The CT genotype was more common in controls (17%) than in patients with asthma (1%) (p-value = 0.0003; OR, 0.057; 95% CI, 0.007-0.441). The CCCT CCCC diplotype (promoter positions -613, -549, -441, and -197) was more frequent in the group of patients with asthma [Fisher's p-value = 0.012; OR, 10.24; 95% CI (1.25-83.68)]; this diplotype is unambiguous. To our knowledge, this is the first study of -613C > T PTGDR polymorphism in patients. This analysis provides more complete information on influence of diplotype combinations of PTGDR polymorphisms in asthma.
authors.affiliation: Department of Allergy, University of Salamanca, Salamanca, Spain.
authors.forename: Catalina
authors.initials: C
authors.lastname: Sanz
authors.forename: María
authors.initials: M
authors.lastname: Isidoro-García
authors.forename: Ignacio
authors.initials: I
authors.lastname: Dávila
authors.forename: Marien Pascual
authors.initials: MP
authors.lastname: de Pedro
authors.forename: Sonia de Arriba
authors.initials: Sde A
authors.lastname: Méndez
authors.forename: Juana
authors.initials: J
authors.lastname: Padrón
authors.forename: Arturo
authors.initials: A
authors.lastname: Ruiz-SanFrancisco
authors.forename: Félix
authors.initials: F
authors.lastname: Lorente
mesh_terms: D000293:Adolescent; D000328:Adult; D001249:Asthma / Q000235:genetics* / Q000276:immunology; D016022:Case-Control Studies; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D011971:Receptors, Immunologic / Q000235:genetics* / Q000276:immunology; D011982:Receptors, Prostaglandin / Q000235:genetics* / Q000276:immunology; D013030:Spain; D013147:Spirometry; D044465:White People
chemical_list: D011971:Receptors, Immunologic; D011982:Receptors, Prostaglandin; C036293:prostaglandin D2 receptor