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@article{404259,
author = {Izakovičová Hollá, Lydie and Bučková, Dana and Fassmann, Antonín and Halabala, Tomás and Vasků, Anna and Vácha, Jirí},
article_location = {London},
article_number = {11},
keywords = {periodontitis; LPS; gene; polymorphism; CD14 receptor},
language = {eng},
issn = {0022-2593},
journal = {J Med Genet},
title = {Promoter Polymorphisms in the CD14 Receptor Gene and their Potential Association with the Severity of Chronic Periodontitis},
volume = {39},
year = {2002}
}
TY - JOUR
ID - 404259
AU - Izakovičová Hollá, Lydie - Bučková, Dana - Fassmann, Antonín - Halabala, Tomás - Vasků, Anna - Vácha, Jirí
PY - 2002
TI - Promoter Polymorphisms in the CD14 Receptor Gene and their Potential Association with the Severity of Chronic Periodontitis
JF - J Med Genet
VL - 39
IS - 11
SP - 844
EP - 844
PB - BMJ Publishing Group
SN - 00222593
KW - periodontitis
KW - LPS
KW - gene
KW - polymorphism
KW - CD14 receptor
N2 - Chronic periodontitis, which is the major cause of tooth loss in adults, is characterized by a chronic inflammation of periodontal tissues mainly caused by infection with subgingival gram-negative, anaerobic bacteria. Cellular responses in periodontitis are mediated, in part, by bacterial lipopolysaccharide (LPS), which activates monocytes to express of cytokines, growth factors, and procoagulatory factors via LPS receptor CD14. The aim of this study was to determine whether the functional polymorphisms in the promoter of the CD14 gene are associated with the risk of chronic periodontitis and the severity of the disease. Two polymorphisms located in the promoter region (C(-159)T and G(-1359)T) were analysed by PCR and RFLP methods in a group of 135 patients with chronic periodontitis, and in 207 age- and sex- unrelated randomly selected control subjects. The CD14 allele and genotype distributions were similar between patients and controls. However, the frequency of the G allele of the G(-1359)T polymorphism was higher in patients with severe disease than moderate disease. The homozygous genotype (GG) of this polymorphism was found to be significantly increased in the severe patient group. Allele and/or genotype frequencies of the C(-159)T polymorphism did not differ significantly between severe and moderate periodontitis patients. However, we detected a tendency for an increased frequency of the -159 TT homozygotes in severe patients (19.2%) compared with the moderate subgroup (8.3%). In one patient, we identified a new mutation (28-bp deletion) in the promoter of the CD14 gene (del from -1310 to -1337), which occurred in a heterozygous combination. This study demonstrates that a specific genetic marker, which was previously associated with an increased sCD14 level, may act as a disease modifier of chronic periodontitis in the investigated population.
ER -
IZAKOVIČOVÁ HOLLÁ, Lydie, Dana BUČKOVÁ, Antonín FASSMANN, Tomás HALABALA, Anna VASKŮ a Jirí VÁCHA. Promoter Polymorphisms in the CD14 Receptor Gene and their Potential Association with the Severity of Chronic Periodontitis. \textit{J Med Genet}. London: BMJ Publishing Group, 2002, roč.~39, č.~11, s.~844-848. ISSN~0022-2593.
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