OBJECTIVETo investigate the link between the polymorphism of -109 and Glu237 in the high-affinity IgE receptor beta (FcepsilonRIbeta) gene and susceptibility to allergic asthma in a Chinese population.

METHODBlood samples from 216 allergic asthma patients and 198 age- and sex-matched controls were studied. A -109C/T and a coding variant Glu237Gly in FcepsilonRIbeta were detected with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).

RESULTSThe genotype frequencies were 0.403 for -109T/T, 0.491 for -109T/C and 0.106 for -109C/C in allergic asthma in a Chinese population. No significant difference in the distribution of -109C/T polymorphism was found between allergic asthma subjects and healthy controls, however, homozygosity for the -109T allele was associated with increased total plasma IgE levels in subjects with allergic asthma (F = 4.020, P < 0.05). The allele frequency of Gly237 in the patients and control was 0.236 and 0.136 respectively. There was a significant association between the Gly/Gly genotype and allergic asthma. Among allergic asthma patients Gly237 was significantly associated with high IgE levels.

CONCLUSIONSThese results suggest that the Gly237 variant of the FcepsilonRIbeta gene is involved in the development of allergic asthma. The -109C/T and Glu237Gly polymorphisms are two of the genetic factor identified thus far, which affect total plasma IgE levels of allergic asthma patients in a Chinese population.

Adolescent ; Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; Asthma ; genetics ; Child ; Child, Preschool ; China ; Female ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic ; Receptors, IgE ; genetics

OBJECTIVE: To construct a special luciferase reporter to detect DNA methylation regulatory activity in FCER1G gene promoter regulatory element. METHODS: We constructed special full and mock methylated FCER1G gene promoter regulatory luciferase reporters by patch-methylation, and detected DNA methylation regulatory activity by comparing the luciferase activity of full-methylated luciferase reporters with mock-methylated reporters. RESULTS: We successfully constructed the full and mock methylated FCER1G gene promoter regulatory luciferase reporters. The ratio of luciferase activity between the full methylated and the mock methylated was (0.36±0.07):1 (P<0.001). CONCLUSION FCER1G promoter activity is methylation-sensitive and is regulated by DNA methylation.
Base Sequence ; DNA Methylation ; Gene Expression Regulation ; Genes, Reporter ; Humans ; Luciferases ; genetics ; Molecular Sequence Data ; Promoter Regions, Genetic ; genetics ; Receptors, IgE ; genetics ; metabolism

OBJECTIVETo investigate the association of the polymorphism of I181L, V183L and E237G in the high affinity immunoglobulin E receptor beta-chain (FcepsilonR1beta) with the susceptibility of childhood asthma and the serum total immunoglobulin E (IgE) level.

METHODSThe coding variants of I181L, V183L and E237G and the serum total IgE level were detected using amplification refractory mutation systemdouble ended arrowpolymerase chain reaction (ARMS-PCR) and double antibody sandwich ELISA respectively in 50 asthmatic children and 40 normal controls from Sichuan Province. The association of gene mutation with the susceptibility of asthma and the serum total IgE level was analyzed.

RESULTSThere were 5 cases of I181L mutation, 2 of V183L mutation, and 7 of E237G mutation in the Asthmatic group. There was no mutation in the Normal control group. The frequency of I181L and E237G mutation in the Asthmatic group were statistically higher than in the Normal control group (P < 0.01). The serum total IgE level in the Asthmatic subgroup with I181L mutation (2.837 +/- 0.407) or E237G mutation (3.044 +/- 0.419) was significantly higher than in the Asthmatic subgroup without gene mutation (2.156 +/- 0.638) and the Normal control group (1.348 +/- 1.291) (P < 0.05 or 0.01).

CONCLUSIONSThe polymorphism of Fc epsilonR1betaI181L and E237G is a susceptible gene of childhood asthma and closely associates with the increased serum total IgE level.

Adolescent ; Asthma ; genetics ; immunology ; Child ; Child, Preschool ; Female ; Genetic Predisposition to Disease ; Humans ; Immunoglobulin E ; blood ; Infant ; Male ; Mutation ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Receptors, IgE ; genetics

OBJECTIVETo analyze the frequency distribution of single nucleotide polymorphisms (SNPs) of four asthma-related gene loci (ACE I/D; ADRB2 Arg16Gly; TNF-α G-308A; MS4A2 Glu237Gly) in 198 asthmatic children, and to investigate its association with genetic susceptibility to childhood asthma and some clinical phenotypes of asthma.

METHODSPolymerase chain reaction product electrophoresis identification and real-time quantitative PCR detecting system were used to determine the frequency distributions of the SNPs of the four asthma-related gene loci in 198 asthmatic children and 110 healthy controls. The serum total IgE (TIgE) levels and blood eosinophil proportion (%EOS) of the asthmatic children were measured. Different genotypes at the four asthma-related gene loci were compared in terms of TIgE and %EOS.

RESULTSThe genotype DD of angiotensin-converting enzyme (ACE) had a significantly higher frequency in the asthmatic children than in the healthy controls (χ2= 30.667, P<0.01), and the frequency of D allele was also significantly higher in the asthmatic children than in the healthy controls (χ2=7.151, P<0.01). No correlation was found between the polymorphism of each gene locus and serum TIgE level and %EOS (P>0.05).

CONCLUSIONSGenotype DD of ACE is related to genetic susceptibility to childhood asthma and may be the risk factor for childhood asthma.

Asthma ; etiology ; genetics ; Child, Preschool ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Peptidyl-Dipeptidase A ; genetics ; Polymorphism, Single Nucleotide ; Receptors, Adrenergic, beta-2 ; genetics ; Receptors, IgE ; genetics ; Tumor Necrosis Factor-alpha ; genetics

IgE-dependent activation of mast cells and basophils through the high-affinity IgE receptor (FcepsilonRI) is involved in the pathogenesis of allergen-induced immune responsiveness in atopic diseases like atopic dermatitis (AD). We sought to determine FcepsilonRI gene polymorphisms are associated with AD in Korean patients, and analyzed the relevance of FcepsilonRI gene polymorphisms and serum IgE levels. We conducted a case-control association analysis (175 patients and 56 controls) of Korean subjects. Genotyping was performed using the TaqMan fluorogenic 5' nuclease assay, and serum levels of IgE were measured using a fluorescence enzyme immunoassay. We found that there were no significant relationships between FcepsilonRI and AD, although there were trends towards an association between the 66T>C (rs2251746) polymorphism and total serum IgE levels in the Korean AD patients. In conclusion, while the 66T>C (rs2251746) of the FcepsilonRIalpha polymorphism may be linked to AD and higher serum IgE levels, polymorphisms in the FcepsilonRIbeta gene did not confer susceptibility to AD in our patient sample.
Adolescent ; Alleles ; Asian Continental Ancestry Group/*genetics ; Case-Control Studies ; Child ; Child, Preschool ; Dermatitis, Atopic/*genetics/immunology ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Immunoglobulin E/*blood ; Male ; *Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; Receptors, IgE/*genetics ; Republic of Korea

OBJECTIVETo determine whether 2 polymorphism sites of the high-affinity IgE receptor beta (Fc epsilon RI beta) gene were associated with allergic asthma in Han nationality of Hubei province in China.

METHODSDNA and clinical data were obtained from allergic asthma patients and were compared with those from a group of healthy control subjects. The subjects were genotyped for the -109C/T and a coding variant Glu237Gly in Fc epsilon RI beta gene by polymerase chain reaction-restriction fragment length polymorphism.

RESULTS(1) The genotype frequencies were 0.403 for -109T/T, 0.491 for -109T/C and 0.106 for -109C/C in allergic asthma patients in a Chinese population. No significant difference in the distribution of -109C/T polymorphism was found between allergic asthma patients and healthy control subjects; however, a homozygosity for the -109T allele was associated with increased total plasma IgE levels in patients with allergic asthma (F=7.523, P<0.01). (2) The frequency of Gly237Gly genotype was 0.051 in patient group, and 0.020 in control group. The allele frequencies of Gly237 in the patients and control were 0.236 and 0.136 respectively. There was a significant association between Gly/Gly genotype and allergic asthma. Among allergic asthma patients Gly237Gly was significantly associated with high IgE.

CONCLUSIONThese data suggested that the Gly237Gly genotype of the Fc epsilon RI beta gene conferred genetic susceptibility to allergic asthma in Chinese, which affected the total plasma IgE levels in the allergic asthma patients. And a homozygosity for the -109T allele was associated with increased total plasma IgE.

Adolescent ; Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; Asthma ; blood ; genetics ; Child ; Child, Preschool ; China ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Immunoglobulin E ; blood ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length ; Promoter Regions, Genetic ; genetics ; Receptors, IgE ; genetics ; Young Adult

The pathogenic mechanism of ASA-induced urticaria/angioedema (AIU) is still poorly understood, but it has been known that histamine releasing by cutaneous mast cell activation is considered to be an important role. Considering the importance of histamine in AIU, we speculated that a genetic abnormality of histamine-related genes such as a high-affinity IgE receptor, a metabolic enzyme of histamines and histamine receptors, may be involved in the development of AIU. Enrolled in the study were 110 patients with AIU, 53 patients without ASA hypersensitivity who had various drug allergies presenting as exanthematous skin symptoms, and 99 normal healthy controls (NC). Eleven single nucleotide polymorphisms (SNPs) of the beta chain of the high-affinity IgE receptor (FCER1B) and three histamine-related genes-histamine N-methyltransferase (HNMT), histamine H1 receptor (HRH1), histamine H2 receptor (HRH2)-were screened using the SNP-IT assay based on a single base extension method. No significant differences were observed in allele and genotype frequencies, and haplotype frequencies of all the SNPs of FCER1B, HNMT, HRH1, and HRH2 among the three groups (p>0.05, respectively). These results suggest that the polymorphisms of FCER1B and the three histamine-related genes may not contribute to the development of AIU phenotype in the Korean population.
Adult ; Alleles ; Angioneurotic Edema/chemically induced/*genetics/metabolism ; Aspirin ; Female ; Gene Frequency ; Genotype ; Haplotypes ; Histamine/*metabolism ; Histamine Release/genetics ; Humans ; Linkage Disequilibrium ; Male ; Middle Aged ; *Polymorphism, Single Nucleotide ; Receptors, IgE/*genetics ; Research Support, Non-U.S. Gov't ; Urticaria/chemically induced/*genetics/metabolism

Exposure to cephalosporins could cause occupational allergic diseases in health care workers (HCWs). We evaluated the prevalence of serum specific IgE and IgG antibodies to cephalosporin-human serum albumin (HSA) conjugate and to identify potential genetic risk factors associated with sensitization to cephalosporins in exposed HCWs. The study population consisted of 153 HCWs who had been exposed to antibiotics in a single university hospital and 86 unexposed healthy controls. A questionnaire survey of work-related symptoms (WRS) was administered. A skin-prick test (SPT) was performed, and serum-specific IgE and IgG antibodies to 3 commonly prescribed cephalosporins were measured by ELISA. Four single-nucleotide polymorphisms of the candidate genes related to IgE sensitization were genotyped. The prevalence of WRS to cephalosporins was 2.6%. The prevalence rates of serum-specific IgE and IgG antibodies to cephalosporins were 20.3% and 14.7%, respectively. The FcepsilonR1beta-109T > C polymorphism was significantly associated with IgE sensitization to cephalosporins in HCWs (P = 0.036, OR = 3.553; CI, 1.324-9.532). The in vitro functional assay demonstrated that the T allele of FcepsilonR1beta-109T had greater promoter activity than did the C allele (P < 0.001). The FcepsilonR1beta-109T > C polymorphism may be a potential genetic risk factor for increased IgE sensitization to cephalosporins.
Adult ; Alleles ; Anti-Bacterial Agents/analysis/*immunology ; Cephalosporins/analysis/*immunology ; Enzyme-Linked Immunosorbent Assay ; Female ; Genetic Predisposition to Disease ; Health Personnel ; Humans ; Hypersensitivity/*diagnosis/epidemiology ; Immunoglobulin E/blood ; Immunoglobulin G/blood ; Male ; Occupational Diseases/*chemically induced/epidemiology ; Occupational Exposure ; Odds Ratio ; Questionnaires ; Receptors, IgE/genetics ; Skin Tests ; Young Adult