4.Genetic study of allergic diseases.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2012;26(17):809-813
Allergic diseases mentioned in this review is regarding to I type allergic inflammation induced by an IgE-mediated reaction, including asthma, allergic rhinitis, atopic dermatitis and food allergy. It is convinced that allergic diseases belong to multiple genes diseases and are controlled by both genetic and environmental factors. Meanwhile there exists gene-gene as well as gene-environment interactions during the development of the disease. The aim of this review is to summarize the toolkit, advance, inherent difficulties and future clinical application prospect in genetic studies of allergic disease.
Asthma
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genetics
;
Gene-Environment Interaction
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Humans
;
Hypersensitivity
;
genetics
;
Immunoglobulin E
;
Rhinitis, Allergic, Perennial
;
genetics
;
Rhinitis, Allergic, Seasonal
;
genetics
;
Risk Factors
5.Genetic epidemiological study on allergic rhinitis in Nantong region of Jiangsu Province.
Li MA ; Da-ling CHEN ; Ru-xin ZHANG ; Xiao-lei WANG ; Yun-jian SHI ; Chao JI ; Zhi-jun HUANG ; Mao-hua QIAN ; Wei-hua WANG ; Pei GUAN
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2007;42(9):643-646
OBJECTIVETo explore the effects of genetic factors on the occurrence of allergic rhinitis (AR).
METHODSThe morbidity rate of AR was surveyed by multistage sampling among 95 300 individuals (23,825 families) in Natong region, Jiangsu province. And a genetic epidemiologic investigation on AR was carried out to estimate the segregation ratio and heritability (h2) of AR by the methods of Li-Mantel-Gart and Falconer respectively.
RESULTSThe morbidity rate of AR in Natong region was 1.20% (Male 1.21%, Female 1.18%, no statistical significance between them); By the data of the AR ancestry, the segregation ratio of AR in Nantong region was 0.078, significantly less than 0.25, and the genetic model belonged to polygenetics. The 1st, the 2nd, and the 3rd generation h2 of AR were (82.6 +/- 2.19)%, (80.8 +/- 2.93)%, (78.4 +/- 7.04)%. The h2 of AR was (81.86 +/- 1.70)%. In the ancestry of AR, the morbidity rate of the 1st generation with AR was 12.11%; the 2nd generation with AR was 5.12%; the 3rd generation with AR was 2.75%; and the morbidity rate of AR in general population was 1.20%.
CONCLUSIONSThe heredity in family with AR is obvious. Several genes plus the environmental factors may cause AR, which accords with the characteristics of the polygene heredity disease.
China ; epidemiology ; Female ; Humans ; Male ; Multifactorial Inheritance ; Prevalence ; Rhinitis, Allergic, Perennial ; epidemiology ; genetics ; Rhinitis, Allergic, Seasonal ; epidemiology ; genetics
6.Association between promoter polymorphisms of interleukin-4 gene and allergic rhinitis risk: a meta-analysis.
Zhi-peng LI ; Li-li YIN ; Hui WANG ; Li-si LIU
Journal of Huazhong University of Science and Technology (Medical Sciences) 2014;34(3):306-313
The relationship of interleukin-4 (IL-4) C-33T and C-590T (C-589T) gene polymorphisms with allergic rhinitis was analyzed. Data about the case control studies of IL-4 gene promoter polymorphisms [C-33T and C-590T (C-589T)] and their association with allergic diseases and correlation between serum IL-4 levels and allergic rhinitis were retrieved. The Stata 12.0 statistical software was applied to analyze the correlation between IL-4 gene polymorphisms and allergic rhinitis. The meta-analysis result of TT/CC genotype of -590 (-589) polymorphism showed a significant association with allergic diseases [OR=1.93, 95% CI (1.61-2.31), P=0.00]. Meta-analysis of the TT+TC versus CC genotype of IL-4 C-33/T polymorphism revealed significant associations with allergic diseases [OR=3.23, 95% CI (1.13-9.25), P=0.03]. Meanwhile, there was a significant correlation between serum IL-4 levels and allergic rhinitis [OR=2.52, 95% CI=(1.80-3.23), P=0.00]. IL-4 gene -590 TT genotype may increase the risk of allergic rhinitis and the T allele mutation of -33 might be correlated with allergic rhinitis.
Gene Frequency
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Genotype
;
Humans
;
Interleukin-4
;
blood
;
genetics
;
Polymorphism, Single Nucleotide
;
Promoter Regions, Genetic
;
genetics
;
Rhinitis, Allergic
;
Rhinitis, Allergic, Perennial
;
blood
;
genetics
;
Risk Factors
8.Pathogenesis of atopic dermatitis.
Journal of the Korean Medical Association 2014;57(3):218-225
Atopic dermatitis (AD) is a chronic relapsing inflammatory skin disease with severe pruritus, and the first step of atopic march since it often precedes asthma or allergic rhinitis. Since its etiology or pathogenesis is very complex and frequently changing, physicians cannot easily understand it in entirety. New insights into the genetics and pathophysiology of AD emphasize the crucial function of the skin barrier as well as abnormal immune response. In this review, the pathogenesis of AD is explained as the combined features of impaired skin barrier and abnormal immune response rather than each independent concept. Understanding the whole pathogenesis of AD may lead to early intervention and prevention of atopic march as well as proper clinical treatment.
Asthma
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Dermatitis, Atopic*
;
Early Intervention (Education)
;
Genetics
;
Hypersensitivity
;
Pruritus
;
Rhinitis
;
Skin
;
Skin Diseases
9.Investigation of the Possible Role of the Hippo/YAP1 Pathway in Asthma and Allergy.
Lili E FODOR ; András GÉZSI ; ldikó UNGVÁRI ; Agnes F SEMSEI ; Zsófia GÁL ; Adrienne NAGY ; Gabriella GÁLFFY ; Lilla TAMÁSI ; András KISS ; Péter ANTAL ; Csaba SZALAI
Allergy, Asthma & Immunology Research 2017;9(3):247-256
PURPOSE: Several lines of evidence indicate that the Hippo/Yes-associated protein 1 (YAP1) pathways might play a role in the pathogenesis of asthma. To investigate the possible role of the Hippo/YAP1 pathway in the pathogenesis of asthma or its phenotypes. METHODS: The levels of gene expressions of the members of the Hippo/YAP1 were compared. The presence of the proteins of the YAP1 and FRMD6 were analyzed with Western blot in induced sputum of 18 asthmatic subjects and 10 control subjects. Fourteen single nucleotide polymorphisms (SNPs) in the YAP1 gene were genotyped in 522 asthmatic subjects and 711 healthy controls. The results were evaluated with traditional frequentist methods and with Bayesian network-based Bayesian multilevel analysis of relevance (BN-BMLA). RESULTS: The mRNA of all the members of the Hippo/YAP1 pathway could be detected in the induced sputum of both controls and cases. A correlation was found between YAP1 mRNA levels and sputum bronchial epithelial cells (r=0.575, P=0.003). The signal for the FRMD6 protein could be detected in all sputum samples while the YAP1 protein could not be detected in the sputum samples, of the healthy controls and severe asthmatics, but it was detectable in mild asthmatics. The rs2846836 SNP of the YAP1 gene was significantly associated with exercise-induced asthma (odds ratio [OR]=2.1 [1.3-3.4]; P=0.004). The distribution of genotypes of rs11225138 and certain haplotypes of the YAP1 gene showed significant differences between different asthma severity statuses. With BN-BMLA, 2 SNPs, genetic variations in the FRMD6 gene proved to be the most relevant to exercise-induced asthma and allergic rhinitis. These 2 SNPs through allergic rhinitis and exercise-induced asthma were in epistatic interaction with each other. CONCLUSIONS: Our results provided additional evidence that the FRMD6/Hippo/YAP1 pathway plays a role in the pathogenesis of asthma. If additional studies can confirm these findings, this pathway can be a potential novel therapeutic target in asthma and other inflammatory airway diseases.
Asthma*
;
Asthma, Exercise-Induced
;
Blotting, Western
;
Epithelial Cells
;
Gene Expression
;
Genetic Variation
;
Genetics
;
Genotype
;
Haplotypes
;
Hypersensitivity*
;
Multilevel Analysis
;
Phenotype
;
Polymorphism, Single Nucleotide
;
Rhinitis
;
Rhinitis, Allergic
;
RNA, Messenger
;
Sputum
10.Comparative study of IL-4, IFN-gamma gene methylation for the epigenetics of allergic rhinitis in Xinjiang Uygur, Han people.
Zhongzhang LOU ; Huiwu WANG ; Qing YANG ; Xiaofang JIANG ; Qingquan ZHANG ; Ni Re MU ; He Ta Er MU ; Li GAO
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2012;26(18):795-797
OBJECTIVE:
To investigate the differences of IL-4, IFN-gamma gene promoter methylation of allergic rhinitis patients between Uygur and Han people of Xinjiang.
METHOD:
Methylation-specific PCR (MSP) detected IL-4, IFN-gamma gene methylation of each of 50 patients with allergic rhinitis in Uygur and Han.
RESULT:
Complete IL-4 gene promoter methylation rate was 44% (22/50) and 48% (24/50) in Uygur and Han AR patients, un-methylation was 26% (13/50) and 22% (11/50), coexistence rate of methylation and un-methylation was 30% (15/50) and 30% (15/50). Complete IFN-gamma gene promoter methylation rate was 12% (6/50) and 16% (8/50) in Uygur and Han AR patients, un-methylation was 8% (4/50) and 10% (5/50), coexistence rate of methylation and unmethylated was 80% (40/50) and 74% (37/50). Distribution of IL-4 gene methylation between Han and Uygur AR patients had no statistically significant (P > 0.05). Distribution of IFN-gamma gene methylation between Han and Uygur AR patients had no statistically significant (P > 0.05).
CONCLUSION
There is no difference of IL-4, IFN-gamma gene methylation in patients between the Han and Uygur.
Adult
;
China
;
epidemiology
;
DNA Methylation
;
Epigenesis, Genetic
;
Ethnic Groups
;
genetics
;
Female
;
Gene Frequency
;
Humans
;
Interferon-gamma
;
genetics
;
Interleukin-4
;
genetics
;
Male
;
Promoter Regions, Genetic
;
Rhinitis, Allergic
;
Rhinitis, Allergic, Perennial
;
epidemiology
;
genetics