title: Mannose binding lectin gene polymorphisms and associated auto-immune diseases in type 1 diabetes Brazilian patients.
abstract: In our study we investigated the possible role of MBL2 functional single nucleotide polymorphisms (SNPs) in the augmented susceptibility to develop other autoimmune diseases in presence of type 1 diabetes (T1D) in a group of Brazilian patients. Patients were stratified for the presence of autoimmune diseases known to be associated with T1D, such as autoimmune thyroid disease (AITD) and celiac disease (CD), and compared with healthy controls (HC). Our findings suggest that MBL2 functional SNPs are more closely related to AITD than to T1D, being MBL2 SNPs frequencies in T1D patients not affected by AITD comparable to the HC ones, while significantly different between AITD patients and patients not affected by the disease. Thus, the association between MBL2 polymorphisms and T1D that we previously reported, seems to result from the stronger association of MBL2 SNPs with another autoimmune disease, the AITD, frequently associated with T1D.
authors.affiliation: Pediatric Endocrinology Unit of Clinical Hospital, Federal University of Pernambuco, Pernambuco, Brazil.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Araujo
authors.forename: Ludovica
authors.initials: L
authors.lastname: Segat
authors.forename: Rafael L
authors.initials: RL
authors.lastname: Guimarães
authors.forename: Lucas A C
authors.initials: LA
authors.lastname: Brandão
authors.forename: Paulo E R
authors.initials: PE
authors.lastname: Souza
authors.forename: Sérgio
authors.initials: S
authors.lastname: Santos
authors.forename: Thereza S
authors.initials: TS
authors.lastname: Soares
authors.forename: Elcy A
authors.initials: EA
authors.lastname: Falcão
authors.forename: Fernanda
authors.initials: F
authors.lastname: Rodrigues
authors.forename: Ronaldo
authors.initials: R
authors.lastname: Carvalho
authors.forename: José Luiz
authors.initials: JL
authors.lastname: de Lima-Filho
authors.forename: Luiz Claudio
authors.initials: LC
authors.lastname: Arraes
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
mesh_terms: D000293:Adolescent; D001327:Autoimmune Diseases / Q000150:complications* / Q000453:epidemiology / Q000235:genetics*; D001938:Brazil / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000150:complications* / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012015:Reference Standards
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin