# 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.

## Key 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.