title: Absence of association between two insertion/deletion coding genetic polymorphisms of TIM-1 gene and asthma in Chinese Han population.
abstract: TIM-1, a member of T-cell immunoglobulin domain and mucin domain (TIM) gene family, was implicated as an asthma susceptibility gene in previous studies. TIM-1 was expressed on CD4(+) T cells after activation and its expression was sustained preferentially in T-helper type 2 (T(H)2) but not in T(H)1 cells, therefore TIM-1 became a good candidate gene for atopic diseases. Recent studies indicated that two insertion/deletion (ins/del) coding genetic polymorphisms in exon 4 of TIM-1 were associated with asthma susceptibility in some but not in all populations. In order to investigate the relationship between TIM-1 genetic polymorphisms and asthma in Chinese Han population, we performed a case-control study for two insertion/deletion polymorphisms in TIM-1 exon 4 (5383_5397ins/del and 5509_5511delCAA) and a single nucleotide polymorphism (SNP) in intron 8 (IVS 8+9 G/A) between a healthy control group of 309 people and an asthma patient group of 352 people recruited from Chinese Han population. The polymorphisms were genotyped and the allele and genotype frequencies were analysed, but none of the three polymorphisms showed association with asthma susceptibility in single-locus association analyses. Linkage disequilibrium (LD) analyses demonstrated that the two insertion/deletion polymorphisms were in strong LD but the haplotypes constructed from these two polymorphisms showed no significant association with asthma. In conclusion, our findings suggest that 5383_5397ins/del, 5509_5511delCAA and SNP IVS 8+9 G/A polymorphisms are not associated with asthma susceptibility in Chinese Han population.
authors.affiliation: Institute of Medical Genetics, School of Medicine, Shandong University, Jinan, Shandong, China.
authors.forename: J S
authors.initials: JS
authors.lastname: Li
authors.forename: Q J
authors.initials: QJ
authors.lastname: Liu
authors.forename: P
authors.initials: P
authors.lastname: Wang
authors.forename: H C
authors.initials: HC
authors.lastname: Li
authors.forename: C H
authors.initials: CH
authors.lastname: Wei
authors.forename: C H
authors.initials: CH
authors.lastname: Guo
authors.forename: Y Q
authors.initials: YQ
authors.lastname: Gong
mesh_terms: D000328:Adult; D001249:Asthma / Q000235:genetics*; D001483:Base Sequence; D002681:China; D004251:DNA Transposable Elements; D005260:Female; D020022:Genetic Predisposition to Disease; D000072596:Hepatitis A Virus Cellular Receptor 1; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011991:Receptors, Virus / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D004251:DNA Transposable Elements; C491143:HAVCR1 protein, human; D000072596:Hepatitis A Virus Cellular Receptor 1; D008562:Membrane Glycoproteins; D011991:Receptors, Virus