Promoter Polymorphisms in the CD14 Receptor Gene and their Potential Association with the Severity of Chronic Periodontitis

IZAKOVIČOVÁ HOLLÁ, Lydie, Dana BUČKOVÁ, Antonín FASSMANN, Tomás HALABALA, Anna VASKŮ and Jirí VÁCHA. Promoter Polymorphisms in the CD14 Receptor Gene and their Potential Association with the Severity of Chronic Periodontitis (Promoter Polymorphisms in the CD14 Receptor Gene and their Potential Association with the Severity of Chronic PeriodontitisJ). J Med Genet. London: BMJ Publishing Group, 2002, vol. 39, No 11, p. 844-848. ISSN 0022-2593.

Basic information

• Original name: Promoter Polymorphisms in the CD14 Receptor Gene and their Potential Association with the Severity of Chronic Periodontitis
• Authors: IZAKOVIČOVÁ HOLLÁ, Lydie (203 Czech Republic, guarantor), Dana BUČKOVÁ (203 Czech Republic), Antonín FASSMANN (203 Czech Republic), Tomás HALABALA (203 Czech Republic), Anna VASKŮ (203 Czech Republic) and Jirí VÁCHA (203 Czech Republic).
• Edition: J Med Genet, London, BMJ Publishing Group, 2002, 0022-2593.

Other information

• Original language: English
• Type of outcome: Article in a journal
• Field of Study: Genetics and molecular biology
• Country of publisher: United Kingdom of Great Britain and Northern Ireland
• Confidentiality degree: is not subject to a state or trade secret
• Impact factor: Impact factor: 7.774
• RIV identification code: RIV/00216224:14110/02:00006167
• Organization unit: Faculty of Medicine
• UT WoS: 000179208400012
• Keywords in English: periodontitis; LPS; gene; polymorphism; CD14 receptor
• Tags: CD14 receptor, gene, LPS, periodontitis, polymorphism

Abstract

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.

Links

• MSM 141100002, plan (intention): Name: Molekulární patofyziologie multigenních chorob

Investor: Ministry of Education, Youth and Sports of the CR, Molecular pathophysiology of multigene diseases