Molecular variations in the promoter and coding regions of human Tim-1 gene and their association in Koreans with asthma.
The family of T-cell immunoglobulin domain and mucin domain (TIM) proteins is identified to be expressed on T cells. A member of Tim family, TIM-1, was considered as a membrane protein that is associated with the development of helper T cell (Th2) biased immune responses, and may be selectively expressed on Th2 cells. In the present study we performed single nucleotide polymorphism (SNP) scanning of the coding and promoter regions of human Tim-1 gene. We identified a total of ten SNPs including five novel SNPs (-1166C>G, -416G>C, -232A>G, 5365C>T, and 5529A>G) in the coding and promoter regions, one novel variation site (-2278_-2276dupATT) in the promoter region and three variations (5383_5397del, 5387_5389insAAC, and 5509_5511delCAA) in exon 4 of human Tim-1 gene. Our results suggest that the exon 4 variation site in human Tim-1 gene is associated with the susceptibility of allergic disease.
Chae
Soo-Cheon
SC
Genomic Research Center for Immune Disorders, School of Medicine, Wonkwang University, Iksan, Chonbuk 570-749, Korea.
Song
Ju-Hee
JH
Heo
Jin-Chul
JC
Lee
Yong-Chul
YC
Kim
Jin-Wou
JW
Chung
Hun-Taeg
HT
D001249:Asthma / Q000235:genetics* / Q000276:immunology; D001483:Base Sequence; D005091:Exons / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D014644:Genetic Variation; D005838:Genotype; D000072596:Hepatitis A Virus Cellular Receptor 1; D006801:Humans; D007723:Korea; D008562:Membrane Glycoproteins / Q000096:biosynthesis / Q000235:genetics* / Q000276:immunology; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics*; D017434:Protein Structure, Tertiary / Q000235:genetics; D011991:Receptors, Virus / Q000096:biosynthesis / Q000235:genetics* / Q000276:immunology; D018418:Th2 Cells / Q000276:immunology*
C491143:HAVCR1 protein, human; D000072596:Hepatitis A Virus Cellular Receptor 1; D008562:Membrane Glycoproteins; D011991:Receptors, Virus