Programmed cell death 1 gene polymorphism as a possible risk for systemic lupus erythematosus in Egyptian females

Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease with a suggested genetic basis. The newly identified human programmed cell death 1 gene could be associated with SLE susceptibility. We aimed to investigate the association between programmed cell death 1 polymorphism (PD1.3G/A (...

Full description

Saved in:
Bibliographic Details
Published in:Lupus 2019-10, Vol.28 (12), p.1427-1434
Main Authors: Abo El-khair, S M, Sameer, W, Awadallah, N, Shaalan, D
Format: Article
Language:English
Subjects:
Adult
Alleles
Apoptosis
Autoimmune diseases
Case-Control Studies
Cell death
Egypt - epidemiology
Female
Females
Gene polymorphism
Genotype
Haplotypes
Humans
Linkage disequilibrium
Lupus
Lupus Erythematosus, Systemic - blood
Lupus Erythematosus, Systemic - diagnosis
Lupus Erythematosus, Systemic - genetics
PD-1 protein
Polymerase chain reaction
Polymorphism
Polymorphism, Single Nucleotide - genetics
Programmed Cell Death 1 Receptor - genetics
Retrospective Studies
Risk Factors
Single-nucleotide polymorphism
Systemic lupus erythematosus
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease with a suggested genetic basis. The newly identified human programmed cell death 1 gene could be associated with SLE susceptibility. We aimed to investigate the association between programmed cell death 1 polymorphism (PD1.3G/A (rs11568821) and PD1.5C/T (rs2227981)) with the risk of SLE in the Egyptian female population. This retrospective case–control study included 150 Egyptian females; 70 patients diagnosed to have SLE and 80 age-matched healthy controls. The two single nucleotide polymorphisms of the pdcd1 gene were genotyped by allelic discrimination through TaqMan real-time polymerase chain reaction. The PD1.3GG genotype and G allele as well as the PD1.5CC genotype were significantly more frequent in SLE patients (67.1%; p = 0.023, 82.1%; p = 0.0021, 62.9%; p = 0.0287 respectively). The GC haplotype was the most common haplotype among SLE patients (70.77%) with a reported significant linkage disequilibrium between the two studied polymorphisms (p = 0.0041). Although most of the studies showed significant association of SLE with the minor alleles, we reported a significant association between the dominant genotypes (PD1.3GG and PD1.5CC) as well as the major G allele with the risk of SLE among Egyptian females.
ISSN:0961-2033
1477-0962
DOI:10.1177/0961203319878493