Geno
|
Mag
|
Summary
|
(G;G)
|
1.2
|
4.6x risk of eosinophilic esophagitis
|
(G;T)
|
1
|
normal
|
(T;T)
|
0
|
normal
|
rs2302009 is a SNP located in the 3' untranslated region of the CCL26 gene. This gene (and this SNP) were discovered to be strongly associated with 117 patients with eosinophilic esophagitis, a form of esophagitis (or inflammation of the esophagus) that shares many symptoms with gastroesophageal reflux disease (GERD). [PMID 16453027]
rs2302009(G) is the risk allele. The rs2302009(G;G) homozygous genotype is the most predisposed to developing eosinophilic esophagitis (odds ratio 4.55, CI 1.71–12.39). The heterozgyote (rs2302009(G;T)) genotype's risk was indistinguishable statistically from the normal rs23020099(T;T) genotype. [PMID 15453027]
[PMID 17848170] The chemokine network. II. On how polymorphisms and alternative splicing increase the number of molecular species and configure intricate patterns of disease susceptibility.
[PMID 20808897] Disease-associated mutations that alter the RNA structural ensemble.