The association between CD14 (C-159T) single-nucleotide polymorphism and Behcet’s syndrome and its clinical manifestations in Egyptian patients, an observational case–control genetic association study

TL;DR

This study finds that a genetic variant in CD14 increases the risk of Behcet’s syndrome and is linked to skin symptoms in Egyptian patients.

Contribution

The study identifies a genetic association between CD14 (C-159T) polymorphism and Behcet’s syndrome in Egyptians, including its link to skin manifestations.

Findings

The TT genotype of CD14 (C-159T) is more common in Behcet’s patients than in controls.

The T allele is associated with increased risk of Behcet’s syndrome and skin symptoms like erythema and pustules.

Abstract

Cluster of differentiation 14 (CD14) molecules are immune cell surface molecules that bind and display lipopolysaccharides (LPSs) of gram-negative bacteria to Toll-like receptor 4 (TLR4), facilitating LPS-induced immune cell activation. The CD14 promoter polymorphism C-159T is positively correlated with CD14, and homozygous carriers of the T allele have a significant increase in soluble and membrane-bound CD14.

To assess the C-159T polymorphism in Behcet patients compared to controls, and to study its relationship with disease manifestations and activity.

Fifty-one adult Egyptian patients with Behcet’s syndrome and another 51 healthy controls were recruited. Behcet’s syndrome activity was assessed. A blood sample was obtained from each participant for DNA extraction. The extracted DNA was used to determine the C-159T polymorphism in the CD14 promoter gene (rs2569190) using real-time polymerase chain reaction.

The prevalence of the TT genotype was higher in Behcet patients (23.7%) in comparison to the controls (8%) (OR = 5.3, P value = 0.01). The prevalence of the T allele was higher in Behcet patients (49.1%) in comparison to the controls (31.4%) (OR = 2.1, P value = 0.01). The skin erythema was found to be significantly (P value = 0.003) higher in frequency among the TT genotype (58.3%) compared to the CT genotype (26.9%). Moreover, the skin pustules were found to be significantly (P value = 0.01) higher in frequency among the TT genotype (41.6%) compared to the CT genotype (11.5%).

CD14 (C-159T) polymorphism is associated with an increased risk of developing Behcet’s syndrome and is correlated with its dermatological manifestations.
Key points• Behcet’s syndrome is a variable-vessel vasculitis in which aberrant innate immunity is integral to the pathogenesis of the disease.• CD14 molecules recognize pathogens with subsequent activation of innate immunity.• The CD14 promoter gene C-159T single-nucleotide polymorphism increases the susceptibility to Behcet’s syndrome.• The C-159T polymorphism correlates with skin manifestations of Behcet’s syndrome.

Key points

• Behcet’s syndrome is a variable-vessel vasculitis in which aberrant innate immunity is integral to the pathogenesis of the disease.

• CD14 molecules recognize pathogens with subsequent activation of innate immunity.

• The CD14 promoter gene C-159T single-nucleotide polymorphism increases the susceptibility to Behcet’s syndrome.

• The C-159T polymorphism correlates with skin manifestations of Behcet’s syndrome.

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