title: [The relationship between the haplotype of T cells immunoglobulin mucin-3 gene and allergic asthma in the Han population from Hubei province of China].
abstract: OBJECTIVE
  To investigate the single nucleotide polymorphisms (SNPs) of -1516G/T in the promoter region and 4259G/T in the exon-3 region of the T cells immunoglobulin mucin-3 (TIM-3) and their linkage disequilibrium, and therefore to detect their haplotype relationship with allergic asthma of the Han population from Hubei province of China.
  
  
  METHODS
  The two polymorphisms were detected with allelic specific polymerase chain reaction (ASPCR). In the 175 asthmatic subjects and in the 202 healthy controls collected from June, 2004 to October 2007 in the Han population from Hubei province. The genotype and allele frequencies, the D' value between the two SNPs sites, the haplotype and their frequencies were calculated and analyzed, respectively.
  
  
  RESULTS
  The genotype frequencies of GG, GT and TT in -1516G/T polymorphism of TIM-3 gene were 82.7% (167/202), 17.3% (35/202), 0 (0/202) respectively in the 202 controls, and 82.9% (145/175), 17.1% (30/175), 0 (0/175) respectively in the 175 asthmatic subjects. The genotype frequencies of GG, GT and TT in 4259G/T polymorphism of TIM-3 gene were 0.5% (1/202), 2.5% (5/202), 97.0% (196/202) respectively in the 202 controls and 0.6% (1/175), 5.7% (10/175), 93.7% (164/175) respectively in the 175 asthmatic subjects. The control group: D' = 1.0, the asthma group D' = 0. 9. The 3 haplotypes were G-G, G-T, T-T in the Han population from Hubei province of China, and their haplotype frequencies were distributed similarly in asthma 3.4% (12/350), 88.0% (308/ 350), 8.6% (30/350) and in the controls 1.7% (7/404), 89.6% (362/404), 8.7% (35/404). None of these differences were statistically significant (chi2 = 2.15, 0.47, 0.003 respectively, all P > 0.05).
  
  
  CONCLUSIONS
  There are strong linkage disequilibrium between the two SNPs sites in TIM-3 gene in Han population from Hubei province, but the haplotypes G-G, G-T and T-T are not associated with asthma susceptibility of this population. We cannot exclude the possibility that the haplotypes of TIM-3 may be associated with asthma susceptibility in other ethnic populations or the susceptibility to other atopic diseases and autoimmunity diseases.
authors.affiliation: Department of Laboratory, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China. xhhlh@126.com
authors.forename: Li-Hua
authors.initials: LH
authors.lastname: Hu
authors.forename: Zhi-Zhong
authors.initials: ZZ
authors.lastname: Chen
authors.forename: Tian-Pen
authors.initials: TP
authors.lastname: Cui
authors.forename: Ling-Ling
authors.initials: LL
authors.lastname: Kong
authors.forename: Lin
authors.initials: L
authors.lastname: Wang
authors.forename: Feng-Hua
authors.initials: FH
authors.lastname: Chen
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D001249:Asthma / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D000072597:Hepatitis A Virus Cellular Receptor 2; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic
chemical_list: C448908:HAVCR2 protein, human; D000072597:Hepatitis A Virus Cellular Receptor 2; D008565:Membrane Proteins