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Dig Liver Dis. 2007 Mar;39(3):228-31. Epub 2007 Jan 30.

Do MYO9B genetic variants predispose to coeliac disease? An association study in a cohort of South Italian children.

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  • 1Department of Pediatrics F Fede, Second University of Naples, Via Luigi De Crecchio 2, 80138 Naples, Italy.



Coeliac disease is a complex disorder influenced by environmental and genetic factors. A genome wide linkage study identified the myosin IXB (MYO9B) as a gene possibly associated with coeliac disease. Recently, a Dutch study reported a strong association of a single SNP, rs 2305764, of MYO9B with coeliac disease. However, two successive studies carried out on British and Swedish/Norwegian cohorts reported lack of association of the MYO9B variant with coeliac disease.


The aim of the present study is to verify the effects of the MYO9B rs 2305764 polymorphism on disease risk in a Mediterranean population of coeliac children.


To address this issue, an association study was performed in 223 (127 females) Italian coeliac children and adolescents and in 600 controls.


The allelic frequencies of the MYO9B rs 2305764 polymorphism found in our patients and in the population control were not statistically different (P=0.46).


The MYO9B gene rs 2305764 polymorphism is not associated to coeliac disease in coeliac children from Southern Italy. This is in accordance with the most recent reports. Ethnic differences or a false positive result might explain the discrepancy with the Dutch study.

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