Tags

Type your tag names separated by a space and hit enter

Functional polymorphisms of DEFB1 gene in type 1 diabetes Brazilian children.
Autoimmunity 2009; 42(5):406-13A

Abstract

We analyzed three functional 5' un-translated region beta-defensin 1 (DEFB1) single nucleotide polymorphism (SNPs) in a group of 170 type 1 diabetes (T1D) patients. In order to evaluate the SNPs influence on the disease onset and the development of other autoimmune disorder, such as celiac disease (CD) and autoimmune thyroid disease (AITD), patients were stratified according to the presence of AITD, CD, and both AITD and CD. As control group, we studied 191 healthy children and adolescent not presenting a familiar historic of T1D, CD or AITD. DEFB1 SNPs were in Hardy-Weinberg equilibrium both in healthy controls and T1D patients, as well in the T1D patients stratified according to the presence of other autoimmune disorder(s). Allele, genotype, and haplotype frequencies of T1D patients globally considered were comparable to healthy controls ones. No evidence of any association of DEFB1 SNPs with the onset of AIDT, CD, and both AITD and CD on T1D patients was evidenced. Only a minor trend was found for an increased frequency of the - 20 G allele in T1D patients only presenting AITD vs. T1D patients not presenting AITD or CD, as well as an increase of those haplotypes comprising the - 20 G allele when compared with the GCA haplotype. We also evaluated the influence of functional DEFB1 SNPs on the age of T1D onset: no significant statistical conclusion was achieved. Further studies are envisaged, in order to elucidate the possible role of functional DEFB1 polymorphisms in the onset of TD1 and other autoimmune-related disorders.

Authors+Show Affiliations

Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco, Recife, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19811257

Citation

Guimarães, R L., et al. "Functional Polymorphisms of DEFB1 Gene in Type 1 Diabetes Brazilian Children." Autoimmunity, vol. 42, no. 5, 2009, pp. 406-13.
Guimarães RL, Segat L, Rocha CR, et al. Functional polymorphisms of DEFB1 gene in type 1 diabetes Brazilian children. Autoimmunity. 2009;42(5):406-13.
Guimarães, R. L., Segat, L., Rocha, C. R., Brandão, L. A., Zanin, V., Araujo, J., ... Crovella, S. (2009). Functional polymorphisms of DEFB1 gene in type 1 diabetes Brazilian children. Autoimmunity, 42(5), pp. 406-13.
Guimarães RL, et al. Functional Polymorphisms of DEFB1 Gene in Type 1 Diabetes Brazilian Children. Autoimmunity. 2009;42(5):406-13. PubMed PMID: 19811257.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Functional polymorphisms of DEFB1 gene in type 1 diabetes Brazilian children. AU - Guimarães,R L, AU - Segat,L, AU - Rocha,C R C, AU - Brandão,L A C, AU - Zanin,V, AU - Araujo,J, AU - Naslavsky,M S, AU - de Lima Filho,J L, AU - Crovella,S, PY - 2009/10/9/entrez PY - 2009/10/9/pubmed PY - 2010/1/13/medline SP - 406 EP - 13 JF - Autoimmunity JO - Autoimmunity VL - 42 IS - 5 N2 - We analyzed three functional 5' un-translated region beta-defensin 1 (DEFB1) single nucleotide polymorphism (SNPs) in a group of 170 type 1 diabetes (T1D) patients. In order to evaluate the SNPs influence on the disease onset and the development of other autoimmune disorder, such as celiac disease (CD) and autoimmune thyroid disease (AITD), patients were stratified according to the presence of AITD, CD, and both AITD and CD. As control group, we studied 191 healthy children and adolescent not presenting a familiar historic of T1D, CD or AITD. DEFB1 SNPs were in Hardy-Weinberg equilibrium both in healthy controls and T1D patients, as well in the T1D patients stratified according to the presence of other autoimmune disorder(s). Allele, genotype, and haplotype frequencies of T1D patients globally considered were comparable to healthy controls ones. No evidence of any association of DEFB1 SNPs with the onset of AIDT, CD, and both AITD and CD on T1D patients was evidenced. Only a minor trend was found for an increased frequency of the - 20 G allele in T1D patients only presenting AITD vs. T1D patients not presenting AITD or CD, as well as an increase of those haplotypes comprising the - 20 G allele when compared with the GCA haplotype. We also evaluated the influence of functional DEFB1 SNPs on the age of T1D onset: no significant statistical conclusion was achieved. Further studies are envisaged, in order to elucidate the possible role of functional DEFB1 polymorphisms in the onset of TD1 and other autoimmune-related disorders. SN - 1607-842X UR - https://www.unboundmedicine.com/medline/citation/19811257/Functional_polymorphisms_of_DEFB1_gene_in_type_1_diabetes_Brazilian_children_ L2 - http://www.tandfonline.com/doi/full/10.1080/08916930902882756 DB - PRIME DP - Unbound Medicine ER -