Genetic polymorphisms in transforming growth factor beta-1 (TGFB1) and childhood asthma and atopy

Transforming growth factor beta-1 (TGFB1) may influence asthma by modulating allergic airway inflammation and airway remodeling. The role of single nucleotide polymorphisms (SNPs) of TGFB1 in asthma remains inconclusive. We examined TGFB1 SNPs in relation to asthma risk and degree of atopy among 546...

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Bibliographic Details
Published in:Human genetics 2007-06, Vol.121 (5), p.529-538
Main Authors: HUILING LI, ROMIEU, Isabelle, HAO WU, SIENRA-MONGE, Juan-Jose, RAMIREZ-AGUILAR, Matiana, DEL RIO-NAVARRO, Blanca Estela, DEL LARA-SANCHEZ, Irma Carmen, KISTNER, Emily O, GJESSING, Hakon K, LONDON, Stephanie J
Format: Article
Language:English
Subjects:
Adolescent
Alleles
Allergens
Allergies
Allergy
Asthma
Asthma - genetics
Asthma in children
Atopy
Biological and medical sciences
Child
Child, Preschool
Children
Childrens health
Chromosomes
Chronic obstructive pulmonary disease, asthma
Classical genetics, quantitative genetics, hybrids
Environmental health
Female
Fundamental and applied biological sciences. Psychology
Gene polymorphism
Genetic aspects
Genetic diversity
Genetic Predisposition to Disease
Genetics of eukaryotes. Biological and molecular evolution
Growth factors
Haplotypes
Health sciences
Histamine
Human
Humans
Inflammation
Logistic Models
Male
Medical sciences
Mexico
Parents
Parents & parenting
Pediatrics
Pneumology
Polymorphism
Polymorphism, Single Nucleotide
Public health
Respiratory tract
Respiratory tract diseases
Single nucleotide polymorphisms
Single-nucleotide polymorphism
Skin tests
Testing
Transforming Growth Factor beta1 - genetics
Transforming growth factor-b1
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Summary:Transforming growth factor beta-1 (TGFB1) may influence asthma by modulating allergic airway inflammation and airway remodeling. The role of single nucleotide polymorphisms (SNPs) of TGFB1 in asthma remains inconclusive. We examined TGFB1 SNPs in relation to asthma risk and degree of atopy among 546 case-parent triads, consisting of asthmatics aged 4-17 years and their parents in Mexico City. Atopy to 24 aeroallergens was determined by skin prick tests. We genotyped five TGFB1 SNPs, including two known functional SNPs [C-509T (rs1800469), T869C (rs1982073)] and three others (rs7258445, rs1800472, rs8179181), using TaqMan and Masscode assays. We analyzed the data using log-linear and polytomous logistic methods. Three associated SNPs, including the two known functional SNPs, were statistically significantly related to asthma risk. Individuals carrying the T allele of C-509T had an increased risk of asthma [relative risk (RR)=1.42, 95% confidence interval (CI)=1.08-1.87 for one copy; RR (95%CI)=1.95 (1.36-2.78) for two copies]. For T869C, the RRs (95%CI) were 1.47 (1.09-1.98) for one and 2.00 (1.38-2.90) for two copies of the C allele. Similar results were found for rs7258445. The haplotype containing all three risk alleles conferred an increased risk of asthma (RR=1.48, 95% CI=1.11-1.95 for one copy; RR=1.77, 95% CI=1.22-2.57 for two copies). These three SNPs were also related to the degree of atopy. This largest study to date of genetic variation in TGFB1 and asthma and atopy adds to increasing evidence for a role in these disorders.
ISSN:0340-6717
1432-1203
DOI:10.1007/s00439-007-0337-z