OBJECTIVETo discuss the related impact of genetic factors in the incidence of bronchial asthma (BA) and allergic rhinitis (AR) in Nantong region, China.

METHODSBy random sampling method, investigation and research on the incidence of genetic epidemiology were carried out in the population of 95 300 on AR and BA.

RESULTSThe rate of patients with allergic rhinitis with asthma was 25.92% (296/1142), the rate of asthma patients with allergic rhinitis was 40.49% (296/731). The prevalences of AR complicated with BA were 8.19% (280/3418), 3.08% (154/5002) and 3.16% (85/2687) in the first-, second-and third-degree relatives of the probands respectively, while the prevalences of BA complicated with AR were 15.81% (466/2947), 4.61% (229/4967) and 2.51% (134/5345) in the first-, second- and third-degree relatives of the probands respectively, higher than those in the controls (P < 0.05). The weighted mean heritability of AR in BA patients was 94.2% ± 1.9%, while the weighted mean heritability of BA in AR patients was 81.8% ± 2.1%, more than 60%, suggesting that both AR and BA were relevant with genetics.

CONCLUSIONSThe incidence of BA and AR has obvious relevance, supporting the theory that the two diseases are an united airway disease and relevant with polygene heredity.

Asthma ; complications ; epidemiology ; genetics ; China ; epidemiology ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Male ; Pedigree ; Prevalence ; Rhinitis, Allergic, Perennial ; complications ; epidemiology ; genetics

OBJECTIVETo explore the molecular genetic mechanism of complicating depression in asthma by detecting two gene polymorphisms of 5-hydroxytryptamine transporter (5-HTTLPR/Stin2) gene.

METHODSOne hundred fifty-six adults with asthma were collected, and divided into group of asthma with depression (HAMD score > or = 8) and group of asthma without depression or single asthma (HAMD score <8) according to the score of Hamilton depression scale (HAMD). A total of 508 adults with depression alone and 433 healthy individuals were enrolled as controls. The target gene fragments containing the polymorphic regions of 5-HTTLPR and Stin2 were amplified by polymerase chain reaction (PCR). The amplified fragments were then analyzed using agarose gel electrophoresis (AGE) and motored molecular imaging system.

RESULTSThe frequencies of genotype and allele distribution of the Stin2 polymorphism showed that males with genotype Stin2.12/Stin2.10 and allele Stin2.10 had higher risk for asthma than the others (Stin2.12/Stin2.10: OR = 2.291, 95% CI: 1.195 and 4.390; Stin2.10: OR = 1.942, 95% CI: 1.069-3.527). No significant difference was found in the frequencies of genotype and allele distribution of the 5-HTTLPR locus between the asthma and healthy control groups and the two stratified by gender.

CONCLUSIONThe Stin2 polymorphism may play a role in the onset of male asthma. There might be association between the genetic pathogenesis of asthma and depression.

Adult ; Alleles ; Asthma ; epidemiology ; genetics ; Case-Control Studies ; Comorbidity ; Depression ; epidemiology ; genetics ; Female ; Genome-Wide Association Study ; Genotype ; Humans ; Male ; Polymorphism, Genetic ; Serotonin Plasma Membrane Transport Proteins ; genetics

Asthma ; epidemiology ; genetics ; Case-Control Studies ; Child ; Child, Preschool ; China ; epidemiology ; Female ; Humans ; Interleukin-13 ; genetics ; Interleukin-4 ; genetics ; Interleukin-4 Receptor alpha Subunit ; genetics ; Male ; Polymorphism, Single Nucleotide

OBJECTIVETo understand allergic diseases related factors in Changzheng Town, Putuo District infants and young children.

METHODPregnant women registered in Putuo District, Changzheng Town Community Health Service Center Child Health Clinic within the period from January to December, 2008 were enrolled into this survey, a questionnaire survey. The infants were followed up from birth to 2 years of age. The mother and child survey was conducted for 746 pairs, and 684 pairs had complete data. SAS V9.1 statistical software was used for data processing and statistical analysis.

RESULTThe survey showed that prevalence of eczema, allergic rash, and wheezing was 27.9%, 18.9%, and 3.9%, respectively. Multivariate logistic regression analysis showed that allergy in either parent and addition of foods other than milk in infants before 4 months of age were risk factors for eczema; allergy in either parent was also risk factors for allergic rash. Exclusive breastfeeding from birth to 6 months of age was a protective factor for wheezing in infants. Other factors such as parental history of asthma, vitamin supplements to the mothers during pregnancy, mothers' special diet habits, calcium level of infants, etc. had no significant correlation with allergic disorders in infants.

CONCLUSIONThe risk factors for allergic disorders in infants included allergy in either parent and dietary factors of the infants themselves (prematurely adding other foods). Breastfeeding (for 0 - 6 months of age) was a protective factor for infants' wheezing.

Adult ; Asthma ; epidemiology ; etiology ; genetics ; Breast Feeding ; Cohort Studies ; Eczema ; epidemiology ; etiology ; genetics ; Female ; Humans ; Hypersensitivity ; complications ; epidemiology ; Infant ; Infant, Newborn ; Logistic Models ; Male ; Multivariate Analysis ; Parents ; Pregnancy ; Risk Factors ; Surveys and Questionnaires

PURPOSE: Classic cystic fibrosis is now known part of cystic fibrosis transmembrane conductance regulator (CFTR)-related disorders. These include a wide spectrum, from multi-system disorders, such as cystic fibrosis, to mono-symptomatic conditions, such as chronic pancreatitis or congenital bilateral absence of the vas deferens. However, respiratory disease is considered typical for the multi system disorder, cystic fibrosis, and is the major cause of morbidity and mortality. The purpose of this study was to evaluate the potential effects of CFTR gene mutations in Korean children with asthma. MATERIALS AND METHODS: We selected 14 mutations identified in Korea and each of the 48 children with and without asthma were genotyped for the case-control study. RESULTS: No significant differences were found in genotype and allele frequencies of the 9 polymorphisms observed between the non-asthma and asthma groups. In a haplotype determination based on a Bayesian algorithm, 8 haplotypes were assembled in the 98 individuals tested. However, we also did not find any significant differences in haplotype frequencies between the non-asthma and asthma groups. CONCLUSION: We have concluded that this study did not show any evidence in support of providing that CFTR genetic variations significantly contribute to the susceptibility of asthma in Korean children.
Adolescent ; Asthma/*epidemiology/*genetics ; Case-Control Studies ; Child ; Cystic Fibrosis Transmembrane Conductance Regulator/*genetics ; Female ; *Genetic Predisposition to Disease ; Genotype ; Haplotypes ; History, Ancient ; Humans ; Male ; *Mutation ; Republic of Korea

OBJECTIVETo investigate the association of polymorphisms of STAT6 gene and air pollutants of PM(10), NO(2), and SO(2), with asthma in Chinese children.

METHODS418 subjects aged 14 years and under were recruited in a case-control study. The association between STAT6 polymorphisms and childhood asthma were tested by allele frequency, genotype analysis, and MDR analysis. Exposure to outdoor air pollutants was estimated by a 5-day moving average level. Statistical analyses were performed with SAS 9.1 software.

RESULTSOnly 3 alleles of GT repeats at exon 1 of STAT6 were found in Chinese children. C258T and T710C were 2 new SNPs of STAT6 at 3'-UTR. Children who carried T allele of C258T were more common in asthma children than in control subjects (P<0.05). The MDR analysis showed that GT repeats, C258T and T710C of STAT6 polymorphisms interacted together in leading to susceptibility to childhood asthma among Chinese people. After confounding factors were controlled, such as SNP C258T, family history of asthma, frequency of influenza within a year, the 5-day average of SO(2) was tested to be a key risk factor of asthma in Chinese children (P<0.05).

CONCLUSIONChinese children differed in polymorphisms of STAT6 and in its relation with childhood asthma.

Adolescent ; Air Pollutants ; toxicity ; Asian Continental Ancestry Group ; genetics ; Asthma ; chemically induced ; epidemiology ; genetics ; Case-Control Studies ; Child ; Child, Preschool ; China ; epidemiology ; Dinucleotide Repeats ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Polymorphism, Single Nucleotide ; STAT6 Transcription Factor ; genetics ; Sulfur Dioxide ; toxicity

Objective: To investigate the association between chronic lung diseases and the risk of lung cancer. Methods: Using UK Biobank (UKB) survey data, 472 397 participants who had not previously been diagnosed with cancer and whose self-reported sex was consistent with their genetic sex were studied. Information on the prevalence of previous chronic lung diseases, general demographic characteristics and the prevalence of lung cancer was collected using baseline questionnaires and national health system data. The multivariate Cox proportional risk regression model was used to analyze the association between four previous chronic lung diseases (asthma, chronic obstructive pulmonary disease, idiopathic pulmonary fibrosis and interstitial pulmonary disease) and the risk of lung cancer. A total of 458 526 participants with genotype data in the observational study were selected as research objects, and the closely related and independent genetic loci with four chronic lung diseases were selected as instrumental variables, and the association between four chronic lung diseases and the risk of lung cancer was analyzed by Mendelian randomization (MR). The dose-response relationship between genetic risk score and the risk of lung cancer in different chronic lung diseases was evaluated using a restricted cubic spline function. Results: The age [M (Q₁, Q₃)] of the subjects was 57 (50, 63) years old, and there were 3 516 new cases of lung cancer (0.74%) during follow-up. The multivariate Cox proportional hazard regression model analysis showed that previous chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis were associated with the risk of lung cancer, about 1.61 (1.49-1.75) and 2.61 (1.24-5.49), respectively. MR Studies showed that genetically predicted chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis were associated with the risk of lung cancer, with HR (95%CI) of 1.10 (1.03-1.19) and 1.04 (1.01-1.08), respectively. The results of restricted cubic spline function analysis showed that the risk of lung cancer increased linearly with the increase of genetic risk scores for chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis (P<0.05). Neither observational studies nor Mendelian randomization analysis found an association between previous asthma or interstitial lung disease and the risk of lung cancer (both P values>0.05). Conclusion: Chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis are potential risk factors for lung cancer.
Humans ; Middle Aged ; Mendelian Randomization Analysis ; Biological Specimen Banks ; Lung Neoplasms/genetics* ; Pulmonary Disease, Chronic Obstructive/genetics* ; Asthma/genetics* ; Idiopathic Pulmonary Fibrosis/genetics* ; United Kingdom/epidemiology* ; Genome-Wide Association Study

Objective: To investigate the association between chronic lung diseases and the risk of lung cancer. Methods: Using UK Biobank (UKB) survey data, 472 397 participants who had not previously been diagnosed with cancer and whose self-reported sex was consistent with their genetic sex were studied. Information on the prevalence of previous chronic lung diseases, general demographic characteristics and the prevalence of lung cancer was collected using baseline questionnaires and national health system data. The multivariate Cox proportional risk regression model was used to analyze the association between four previous chronic lung diseases (asthma, chronic obstructive pulmonary disease, idiopathic pulmonary fibrosis and interstitial pulmonary disease) and the risk of lung cancer. A total of 458 526 participants with genotype data in the observational study were selected as research objects, and the closely related and independent genetic loci with four chronic lung diseases were selected as instrumental variables, and the association between four chronic lung diseases and the risk of lung cancer was analyzed by Mendelian randomization (MR). The dose-response relationship between genetic risk score and the risk of lung cancer in different chronic lung diseases was evaluated using a restricted cubic spline function. Results: The age [M (Q₁, Q₃)] of the subjects was 57 (50, 63) years old, and there were 3 516 new cases of lung cancer (0.74%) during follow-up. The multivariate Cox proportional hazard regression model analysis showed that previous chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis were associated with the risk of lung cancer, about 1.61 (1.49-1.75) and 2.61 (1.24-5.49), respectively. MR Studies showed that genetically predicted chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis were associated with the risk of lung cancer, with HR (95%CI) of 1.10 (1.03-1.19) and 1.04 (1.01-1.08), respectively. The results of restricted cubic spline function analysis showed that the risk of lung cancer increased linearly with the increase of genetic risk scores for chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis (P<0.05). Neither observational studies nor Mendelian randomization analysis found an association between previous asthma or interstitial lung disease and the risk of lung cancer (both P values>0.05). Conclusion: Chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis are potential risk factors for lung cancer.
Humans ; Middle Aged ; Mendelian Randomization Analysis ; Biological Specimen Banks ; Lung Neoplasms/genetics* ; Pulmonary Disease, Chronic Obstructive/genetics* ; Asthma/genetics* ; Idiopathic Pulmonary Fibrosis/genetics* ; United Kingdom/epidemiology* ; Genome-Wide Association Study

The risk of asthma has been increasing in parallel with use of acetaminophen, which is a potential source of oxidative stress. Toll-like receptor 4 (TLR4) plays a critical role not only in innate immunity, but also in mediating reactive oxygen species induced inflammation. Therefore, we investigated associations between acetaminophen usage and TLR4 polymorphism on asthma and bronchial hyperresponsiveness (BHR). The number of 2,428 elementary school children in Seoul and Jeongeup cities was recruited. Subjects who used acetaminophen with a family history of asthma had an increased risk of both asthma diagnosis ever and current asthma. Individuals with CT+TT genotypes at the TLR4 polymorphism, in combination with acetaminophen usage, also demonstrated an increased risk of asthma diagnosis ever (aOR, 2.08; 95% confidence interval [CI], 1.10-3.92). Family history of asthma and acetaminophen usage were risk factors for BHR. Although TLR4 was not an independent risk factor for BHR, individuals with CT+TT genotypes at the TLR4 polymorphism had an increased risk of BHR when combined with acetaminophen usage (aOR, 1.74; 95% CI, 1.03-2.94). In conclusion, acetaminophen usage may be associated with asthma and BHR in genetically susceptible subjects. This effect may be modified by polymorphism at TLR4.
Acetaminophen/*adverse effects/therapeutic use ; Adolescent ; Asthma/chemically induced/epidemiology/*genetics ; Bronchial Hyperreactivity/chemically induced/epidemiology/*genetics ; Child ; Cross-Sectional Studies ; Eosinophils/immunology ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Immunoglobulin E/blood/immunology ; Inflammation/immunology ; Male ; Oxidative Stress/drug effects ; Polymorphism, Single Nucleotide ; Questionnaires ; Reactive Oxygen Species/immunology ; Risk ; Risk Factors ; Toll-Like Receptor 4/*genetics

RUNX1, a member of the runt domain gene family of transcription factors, encodes a heterodimeric transcription factor and regulates the expression of various genes related to hematopoiesis and myeloid differentiation. RUNX1 has been one of the target genes for research into various autoimmune diseases due to its properties as a transcription factor and functional distribution for chromosomal translocation. In an effort to identify additional gene polymorphisms in which variants have been implicated in asthma, we investigated the genetic polymorphisms in RUNX1 to evaluate it as a potential candidate gene for a host genetic study of asthma and IgE production. We identified 19 sequence variants by direct DNA sequencing in 24 individuals of which four common variants were selected for genotyping in our asthma cohort (1,055 asthmatic patients, 384 normal controls). Using logistic regression analysis for association with the risk of asthma, while controlling for age, gender, and smoking status as covariates, no significant associations with the risk of asthma were detected. However, two polymorphisms in the promoter region (-2084G>C and -1282G>A) showed a marginal association with total IgE levels (0.03 and 0.03 in recessive models, respectively). Our findings suggest that polymorphisms in RUNX1 might be one of the genetic factors for the regulation of IgE production.
Sequence Analysis, DNA ; Risk Factors ; Polymorphism, Single Nucleotide ; *Polymorphism, Genetic ; Middle Aged ; Male ; Korea ; Immunoglobulin E/*blood ; Humans ; Female ; Data Collection ; Core Binding Factor Alpha 2 Subunit/*genetics ; Cohort Studies ; Child, Preschool ; Child ; Asthma/epidemiology/genetics ; Aged, 80 and over ; Aged ; Adult ; Adolescent