RESULT OF MUTATION

Total records: 1 Records

 

Record No:1


ACCESS NO300674
GENE_NAMETGFB1
dbSNP_IDrs1800470
CHANGESC/G/T (REV)
ANCESTRAL_ALLELESC
FUNCTIONAL_CONSEQUENCESMissense Variant
DISEASEAllergic Asthma and Helminth Infection (In Children)
POPULATIONAfrican Admixed population
PMID 28284979
COMMENTSAn association between rs1800470 (C allele) and atopic wheezing and markers of allergy was noted. A positive association was observed between the haplotype ACCA and Trichuris trichiura infection and Ascaris lumbricoides infection. This haplotype was also associated with increased IL10 production. Individuals with TGFB1 polymorphisms have an increased susceptibility to helminth infections and a lower risk of developing allergy.