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
Y1 - 2009
N2 - We analyzed three functional 5′ un-translated region β-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 HardyWeinberg 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.
AB - We analyzed three functional 5′ un-translated region β-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 HardyWeinberg 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.
KW - Autoimmune thyroid disease
KW - Celiac disease
KW - DEFB1
KW - Genetic polymorphisms
KW - Type 1 diabetes
UR - http://www.scopus.com/inward/record.url?scp=70449564281&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=70449564281&partnerID=8YFLogxK
U2 - 10.1080/08916930902882756
DO - 10.1080/08916930902882756
M3 - Article
C2 - 19811257
AN - SCOPUS:70449564281
VL - 42
SP - 406
EP - 413
JO - Autoimmunity
JF - Autoimmunity
SN - 0891-6934
IS - 5
ER -