Tags

Type your tag names separated by a space and hit enter

Functional single-nucleotide polymorphisms in the DEFB1 gene are associated with systemic lupus erythematosus in Southern Brazilians.
Lupus 2012; 21(6):625-31L

Abstract

Systemic lupus erythematosus (SLE) is an autoimmune disease that results in inflammation and tissue damage. The etiology of SLE remains unknown, but recent studies have shown that the innate immune system may have a role in SLE pathogenesis through the secretion of small cationic peptides named defensins. The aim of the study was to determine the possible involvement in SLE of three functional single nucleotide polymorphisms (SNPs) (c.-52G>A, c.-44C>G and c.-20G>A) in the 5'UTR region of DEFB1 gene, by analyzing them in a population of 139 SLE patients and 288 healthy controls. The c.-52G>A SNP showed significant differences in allele and genotype frequency distribution between SLE patients and controls (p = 0.01 and p = 0.02 respectively) indicating protection against SLE (A allele, OR = 0.68, AA genotype OR = 0.51). Significant differences were also observed for c.-44C>G SNP, the C/G genotype being associated with susceptibility to SLE (OR = 1.60, p = 0.04). Moreover, statistically significant differences between patients and controls were found for two DEFB1 haplotypes (GCA and GGG, p = 0.01 and p = 0.02 respectively). When considering DEFB1 SNPs and SLE clinical and laboratory manifestations, significant association was found with neuropsychiatric disorders, immunological alterations and anti-DNA antibodies. In conclusion, our results evidence a possible role for the c.-52G>A and c.-44C>G DEFB1 polymorphisms in SLE pathogenesis, that can be considered as possible risk factors for development of disease and disease-related clinical manifestations. Additional studies are needed, to corroborate these results as well as functional studies to understand the biological role of these SNPs in the pathogenesis of SLE.

Authors+Show Affiliations

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

22323338

Citation

Sandrin-Garcia, P, et al. "Functional Single-nucleotide Polymorphisms in the DEFB1 Gene Are Associated With Systemic Lupus Erythematosus in Southern Brazilians." Lupus, vol. 21, no. 6, 2012, pp. 625-31.
Sandrin-Garcia P, Brandão LA, Guimarães RL, et al. Functional single-nucleotide polymorphisms in the DEFB1 gene are associated with systemic lupus erythematosus in Southern Brazilians. Lupus. 2012;21(6):625-31.
Sandrin-Garcia, P., Brandão, L. A., Guimarães, R. L., Pancoto, J. A., Donadi, E. A., Lima-Filho, J. L., ... Crovella, S. (2012). Functional single-nucleotide polymorphisms in the DEFB1 gene are associated with systemic lupus erythematosus in Southern Brazilians. Lupus, 21(6), pp. 625-31. doi:10.1177/0961203312436858.
Sandrin-Garcia P, et al. Functional Single-nucleotide Polymorphisms in the DEFB1 Gene Are Associated With Systemic Lupus Erythematosus in Southern Brazilians. Lupus. 2012;21(6):625-31. PubMed PMID: 22323338.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Functional single-nucleotide polymorphisms in the DEFB1 gene are associated with systemic lupus erythematosus in Southern Brazilians. AU - Sandrin-Garcia,P, AU - Brandão,L A C, AU - Guimarães,R L, AU - Pancoto,J A T, AU - Donadi,E A, AU - Lima-Filho,J L de, AU - Segat,L, AU - Crovella,S, Y1 - 2012/02/09/ PY - 2012/2/11/entrez PY - 2012/2/11/pubmed PY - 2012/9/14/medline SP - 625 EP - 31 JF - Lupus JO - Lupus VL - 21 IS - 6 N2 - Systemic lupus erythematosus (SLE) is an autoimmune disease that results in inflammation and tissue damage. The etiology of SLE remains unknown, but recent studies have shown that the innate immune system may have a role in SLE pathogenesis through the secretion of small cationic peptides named defensins. The aim of the study was to determine the possible involvement in SLE of three functional single nucleotide polymorphisms (SNPs) (c.-52G>A, c.-44C>G and c.-20G>A) in the 5'UTR region of DEFB1 gene, by analyzing them in a population of 139 SLE patients and 288 healthy controls. The c.-52G>A SNP showed significant differences in allele and genotype frequency distribution between SLE patients and controls (p = 0.01 and p = 0.02 respectively) indicating protection against SLE (A allele, OR = 0.68, AA genotype OR = 0.51). Significant differences were also observed for c.-44C>G SNP, the C/G genotype being associated with susceptibility to SLE (OR = 1.60, p = 0.04). Moreover, statistically significant differences between patients and controls were found for two DEFB1 haplotypes (GCA and GGG, p = 0.01 and p = 0.02 respectively). When considering DEFB1 SNPs and SLE clinical and laboratory manifestations, significant association was found with neuropsychiatric disorders, immunological alterations and anti-DNA antibodies. In conclusion, our results evidence a possible role for the c.-52G>A and c.-44C>G DEFB1 polymorphisms in SLE pathogenesis, that can be considered as possible risk factors for development of disease and disease-related clinical manifestations. Additional studies are needed, to corroborate these results as well as functional studies to understand the biological role of these SNPs in the pathogenesis of SLE. SN - 1477-0962 UR - https://www.unboundmedicine.com/medline/citation/22323338/Functional_single_nucleotide_polymorphisms_in_the_DEFB1_gene_are_associated_with_systemic_lupus_erythematosus_in_Southern_Brazilians_ L2 - http://journals.sagepub.com/doi/full/10.1177/0961203312436858?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -