A_16_C haplotype in the FcepsilonRIbeta gene confers a higher risk for atopic asthma in the Indian population.
We conducted a case-control study aimed at identifying polymorphisms and haplotypes in the FcepsilonRIbeta gene associated with asthma and its associated phenotypes such as serum IgE levels. A G/A polymorphism in intron 2, a (CA)n repeat polymorphism in intron 5, and a C/T polymorphism in 3'-UTR, encompassing a length of 8.74 Kb, were genotyped, and haplotypes were generated for unrelated patients and healthy volunteers in two independent cohorts. A significant association was observed at the level of alleles and genotypes studied with asthma independently in the two cohorts (p < 0.05). A change in CC_AA genotype combination to a non-CC_AA genotype was associated with reduced risk for asthma. Interestingly, a three-locus haplotype, A_16_C, was found to be significantly associated with asthma (p = 10(-5) in cohort A and p = 0.004 in cohort B). On the other hand, the haplotype G_18_T was found to be negatively associated with asthma (p = 0.007 in cohort A and p = 0.0004 in cohort B). This is the first study identifying a haplotype A_16_C that predisposes individuals to asthma in the Indian population.
Sharma
S
S
Institute of Genomics and Integrative Biology, Mall Road, Delhi, India.
Nagarkatti
R
R
B-Rao
C
C
Niphadkar
P V
PV
Vijayan
V
V
Sharma
S K
SK
Ghosh
B
B
D000293:Adolescent; D000328:Adult; D001249:Asthma / Q000235:genetics* / Q000378:metabolism; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood*; D007194:India; D007438:Introns / Q000235:genetics; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017455:Receptors, IgE / Q000235:genetics*
D017455:Receptors, IgE; D007073:Immunoglobulin E