|| 4.6x risk of eosinophilic esophagitis
|?|| (G;G) (G;T) (T;T) ||28|
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 1.71â€“12.39). The heterozgyote (rs2302009(G;T)) genotype's risk was indistinguishable statistically from the normal rs23020099(T;T) genotype. [PMID 15453027]
] 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.