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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
ADAM33 gene polymorphisms identified to be associated with asthma in a Chinese Li population
Bo Shen1,2, Rong Lin1,3, Cai-Chun Wang1
1Key Laboratory of Tropical Diseases and Translational Medicine, Ministry of Education and Hainan Provincial Key Laboratory of Tropical Medicine, Hainan Medical College, Haikou, Hainan 571199, P.R. China.
Abstract:
A disintegrin and metalloprotease 33 (ADAM33) is an asthma susceptibility gene that has been proven to be present in certain human populations. The Li population is a minority ethnic group, most of whom maintain a distinctive lifestyle on Hainan Island in southern China. To the best of our knowledge, no previous study has established whether ADAM33 polymorphisms are associated with asthma in the Li population. Therefore, the ADAM33 polymorphisms in a Li population were investigated in the present study. A total of 150 asthma patients and 100 healthy subjects were enrolled in the present study, and their DNA samples were evaluated to analyze eight single-nucleotide polymorphisms (SNPs) on the ADAM33 gene. Asthma patients were subcategorized into low and high severity groups, and their SNP data were compared with the data of the control subjects. Single-marker and haplotype association was analyzed to demonstrate the association between ADAM33 SNPs and asthma using multiple genetic statistic tests. The results indicated significant differences in allele frequencies at the SNPs rs44707/T2 (P=0.008), rs2787094/V4 (P=0.028) and rs2280089/T+1 (P=0.021) between asthma patients and control subjects. The SNP rs44707/T2 was also found to be associated with the high severity group (P=0.024), although SNPs rs2787094/V4 were associated with the low severity group (P=0.019). Two haplotypes, GGAGAGT and GAAGGGT, were significantly associated with asthma (P=0.003 and 0.008, respectively). To the best of our knowledge, this is the first time that SNP rs2280089/T+1 has been reported to be associated with asthma in an Asian population. These data confirm that ADAM33 polymorphisms are associated with asthma susceptibility in the Li population and confirm the uniqueness of the Li minority population within China.
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