Background 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. Objective To assess the C-159T polymorphism in Behcet patients compared to controls, and to study its relationship with disease manifestations and activity. Methods 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. Results 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%). Conclusion CD14 (C-159T) polymorphism is associated with an increased risk of developing Behcet’s syndrome and is correlated with its dermatological manifestations. <Table Float="No" ID="Taba"> <tgroup cols="2"> <colspec align="left" colname="c1" colnum="1" /> <colspec align="left" colname="c2" colnum="2" /> <tbody> <row> <entry align="left" nameend="c2" namest="c1"> 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. </entry> </row> </tbody> </tgroup> </Table>

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

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2025年11月4日

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Moustafa Ali Saad,
Hala Ibrahem El Gendy,
Olfat Shaker,
Mariana Victor Philips,
Yumn A. Elsabagh

摘要

Background

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.

Objective

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

Methods

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.

Results

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%).

Conclusion

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.