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Association between FLG Mutations and Asthma

Author: ChenHuaMei
Tutor: HuangXinGang
School: Central South University
Course: Clinical
Keywords: asthma FLG pulmonary function eosinophile granulocyte
CLC: R562.25
Type: Master's thesis
Year: 2011
Downloads: 13
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Abstract


Background:Asthma is a polygenic hereditary disease, with both genetic and environmental factors contributing to its pathogenesis. Since the first genome-wide screening for asthma susceptibility loci in 1996, hundreds of asthma-related genes have been identified. FLG is reported to be associated with asthma recently, and the association various in different populations. To date, whether association of the two mutations 3321delA and K4022X of FLG with development of asthma, pulmonary function or eosinophile granulocyte has not been studied in Chinese Han population.Objective:To study the associations of FLG mutations with asthma.Methods:The study included 90 unrelated asthma patients and 100 healthy controls. Peripheral venous blood sample were taken, and the genotypes of 3321delA, K4022X were tested. All the asthmatics patients were taken pulmonary function test and eosinophils test. Asthmatics patients was classified into two groups:asthmatics without AD and asthmatics with AD. We use SPSS(13.0) software package to statistics analysis the test result, The comparison of the age between asthmatics and controls uses the T-test, and the sex compared by chi square test, while each group of 3321delA,K4022X allele frequency and the genotype frequency’s comparison uses the Pearson’s examination or Fisher’s examination (when n≥40, but has 1≤T<5,or when n<40,and T<1). Used chi square test to test the healthy controls for Hardy-Weinberg balance check; We use the SHEsis software to analyze the 3321delA, K4022X by chain-like unbalanced analyzes and monomer frequency analysis, and to carries on the LD examination on the two units place spots. Constructed the monomer to analyze the differences between different groups. Defines P<0.05 has statistically significant.Results:1.Compared the frequency of genotypes and alleles of 3321delA and K4022X between the asthmatics patients and controls, the difference were not statistically significant.2.Compared the frequency of genotypes and alleles of 3321delA and K4022X between the asthmatics patients with AD and controls, the asthmatics patients with AD and asthmatics patients without AD, the differences were not statistically significant.3.Compared the frequency of genotypes and alleles of 3321delA and K4022X between the asthmatics patients with high EOS and controls, the asthmatics patients with high EOS and asthmatics patients with normal EOS, the differences were not statistically significant.4.Compared the frequency of genotypes and alleles of 3321delA and K4022X between the asthmatics patients with high EOS and controls, the asthmatics patients with high EOS and asthmatics patients with normal EOS, the differences were not statistically significant.5.The 2 mutations(3321delA,K4022X) among control samples consistent with Hardy-Weinberg equilibrium. 6.3321delA, K4022X has weak chain imbalance.7.2 haplotypes did not transmit.Conclusions:1.The mutations of 3321delA, K4022X didn’t show association with the development of asthma.2.The mutations of 3321delA, K4022X didn’t show association with the development of asthma with AD.3.The mutations of 3321 delA, K4022X didn’t show association with declined-pulmonary-function and high EOS of asthmatic patients in.

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CLC: > Medicine, health > Internal Medicine > Respiratory system and chest diseases > Trachea and bronchial disease > Bronchial disease > Bronchial asthma
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