title: No evidence of association of the MYO9B polymorphisms with celiac disease in the Spanish population.
abstract: Inconsistent results concerning the association of polymorphisms in the MYO9B gene with celiac disease (CD) have been recently published. This gene encodes a myosin with a guanosine-triphosphatase (GTPase)-activating protein domain for the Rho-family of small G proteins, which are involved in cytoskeleton remodeling and therefore potentially involved in intestinal permeability. Functional and positional reasons led us to investigate the role of MYO9B polymorphisms in the Spanish CD population. A case-control study, including 415 CD patients and 433 ethnically matched healthy controls, and a familial study, including parents of 145 of those CD patients, was performed. Six MYO9B variants previously associated with CD were analyzed: rs2305767, rs2279003, rs962917, rs1457092, rs2305765 and rs2305764. No MYO9B variants or MYO9B haplotypes were found associated with CD, either before or after stratification of the patients for the human leucocyte antigen (HLA)-DQ2-positive risk factor. The family study revealed no distorted transmission of the aforementioned MYO9B polymorphisms or haplotypes. Our results support a negligible influence of this gene on CD predisposition.
authors.affiliation: Department of Clinical Immunology, Hospital Clínico San Carlos, Madrid, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Núñez
authors.forename: A
authors.initials: A
authors.lastname: Márquez
authors.forename: J
authors.initials: J
authors.lastname: Varadé
authors.forename: A
authors.initials: A
authors.lastname: Martínez
authors.forename: I
authors.initials: I
authors.lastname: Polanco
authors.forename: C
authors.initials: C
authors.lastname: Maluenda
authors.forename: M
authors.initials: M
authors.lastname: Fernández-Arquero
authors.forename: E G
authors.initials: EG
authors.lastname: de la Concha
authors.forename: E
authors.initials: E
authors.lastname: Urcelay
mesh_terms: D016022:Case-Control Studies; D002446:Celiac Disease / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006683:HLA-DQ Antigens / Q000235:genetics / Q000276:immunology; D006239:Haplotypes; D006801:Humans; D009218:Myosins / Q000235:genetics*; D011110:Polymorphism, Genetic; D044382:Population Groups; D013030:Spain
chemical_list: D006683:HLA-DQ Antigens; C053186:HLA-DQ2 antigen; C113469:myosin IXB; D009218:Myosins