927T>C polymorphism of the cysteinyl‐leukotriene type‐1 receptor (CYSLTR1) gene in children with asthma and atopic dermatitis

Abstract

Asthma and atopic dermatitis share several common features and Cysteinyl-leukotrienes are mediators that participate in the pathogenesis of both diseases. Recently, a new polymorphism (927T>C) has been identified in cysteinyl-leukotriene type-1 receptor (CYSLTR1) gene. This gene is found on the X chromosome. The aim of this study was to analyze this SNP in a population of children with asthma and atopic dermatitis. In this study, 166 individuals, 79 adult controls (CTR) and 87 children with asthma (AA) were included. Forty-one patients with asthma presented atopic dermatitis (AA-AD). Adults were chosen as controls to confirm lack of development of asthma and allergy during childhood. Standardized history, physical examination, skin prick tests, and lung function measurements were performed in all patients. The 927T>C CYSLTR1 SNP was analyzed by direct sequencing after PCR amplification. In males (53 individuals), the C allele was significantly more common among AA-AD patients (47%) than in CTR (8%) (Fisher's p < 0.005; Monte Carlo p < 0.008; OR:9.78; 95%CI: 1.73-55.30). When comparing AA-AD vs. AA-NAD (patients with asthma but not atopic dermatitis), significant differences were observed, (47% vs. 15%, Fisher's p = 0.014; Monte Carlo p = 0.022; OR: 4.97; 95%CI: 1.29-19.13). No differences in allele distribution were observed between these disease sub-groups in females. The 927T>C is a silent SNP; however, it could affect transcription or translation or may be linked to an unidentified, functional polymorphism and thus may pre-dispose male children to asthma and atopic dermatitis in our population. Further studies are needed to confirm these findings.

Cysteinyl leukotriene receptor 1 gene variation and risk of asthma

“…Another possible explanation for the inconsistency is the genetic heterogeneity of asthma and ethnicity/geometric difference, which suggests that the association between CYSLTR1 variations and asthma should be replicated in different populations. The results of the current meta-analysis using the present data and data from three previous reports [21,22,24] further support the genetic effect of SNP rs320995 on asthma.…”

“…Although the associations between CYSLTR1 variations and asthma or asthma-related phenotypes have previously been investigated in Caucasian [21,23,24] and Asian populations [22,[25][26][27][28], the results were inconsistent. In detail, ARRIBA-MENDEZ et al [21] reported that the CYSLTR1 thymidine to cytosine substitution at nucleotide 927 (rs320995) variation could predispose male children to asthma and atopic dermatitis in a Caucasian population [21].…”

“…Although the associations between CYSLTR1 variations and asthma or asthma-related phenotypes have previously been investigated in Caucasian [21,23,24] and Asian populations [22,[25][26][27][28], the results were inconsistent. In detail, ARRIBA-MENDEZ et al [21] reported that the CYSLTR1 thymidine to cytosine substitution at nucleotide 927 (rs320995) variation could predispose male children to asthma and atopic dermatitis in a Caucasian population [21]. This positive association was confirmed by SANZ et al [24] in an adult Caucasian population and by KIM and co-workers [27,28] in an adult Korean population, but KIM and co-workers [27,28] presented a positive relationship between the promoter variations and the risk of aspirin-intolerant asthma.…”

“…Tsai). From the initial search, six articles were found [21][22][23][24][25][26]. Three articles were excluded due to not having casecontrol study design and there being no information on sample size [23,25,26].…”

The two single nucleotide polymorphisms in the H37/RBM5 tumour suppressor gene at 3p21.3 correlated with different subtypes of non-small cell lung cancers

“…For example, a link has been found between the silent SNP 102C/T of the 5-HT2A receptor gene in the temporal cortex and the pathogenesis of schizophrenia [31]. Jones and colleagues have shown that silent polymorphisms of the angiotensin-2 receptor increase cardiovascular risk in hypertension [32], while Arriba-Mendez and colleagues have found that when the C allele is present in the silent SNP 927T/C, male children may be predisposed to asthma and atopic dermatitis [33]. Similarly, a silent SNP, 988C→T of the Fas gene has been shown to have significant implications in the development of papillary thyroid carcinoma [33].…”