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CD14 gene -260 C/T polymorphism is associated with chronic heart failure
Stefan Krüger1, Jürgen Graf, Marc W Merx
1Medizinische Klinik I, Universitätsklinikum, Rheinisch Westfälische Technische Hochschule, Pauwelsstrasse 30, 52057 Aachen, Germany. skrueger@lukasneuss.de
Insights
The CD14 C(-260)T gene variant may influence chronic heart failure (CHF) risk. The T allele was less common in CHF patients, suggesting the TT genotype might protect against developing CHF.
Area of Science:
- Genetics
- Cardiology
- Immunology
Background:
- Chronic heart failure (CHF) is linked to inflammation and elevated TNFalpha and endotoxin levels.
- The specific role of the CD14 C(-260)T polymorphism in CHF development remains unclear.
- Investigating genetic factors like CD14 polymorphisms can offer new insights into CHF pathogenesis.
Purpose of the Study:
- To determine if the CD14 C(-260)T promoter polymorphism is associated with an increased risk of developing CHF.
- To explore the genetic susceptibility to CHF based on CD14 gene variations.
- To analyze the frequency of CD14 genotypes in CHF patients and healthy controls.
Main Methods:
- A case-control study involving 100 CHF patients and 100 healthy controls.
- Genotyping of the CD14 C(-260)T polymorphism was conducted using the PCR-RFLP technique.
- Demographic and clinical data, including left ventricular ejection fraction (LVEF), were collected and compared.
Main Results:
- The T allele frequency was significantly lower in CHF patients (38%) compared to controls (48%).
- Conversely, the C allele frequency was higher in CHF patients (62%) than in controls (52%).
- The TT genotype was significantly underrepresented in CHF patients (14%) compared to controls (28%).
Conclusions:
- The CD14 C(-260)T polymorphism appears to influence susceptibility to CHF.
- A lower frequency of the T allele and underrepresentation of the TT genotype in CHF patients suggest a protective role.
- The TT genotype may represent a novel genetic protective factor against the development of chronic heart failure.
Background:
Patients with chronic heart failure (CHF) show inflammatory changes and elevated plasma levels of TNFalpha and endotoxins. However, the role of the CD14 C(-260)T polymorphism in patients with CHF is unclear. Therefore, we sought to determine whether the C=>T promoter polymorphism (position -260) of the CD 14 gene is associated with a higher risk for the development of CHF.
Methods:
We studied 100 patients with CHF (mean age 62+/-3 years, LVEF 28+/-8%) and 100 healthy controls (59+/-10 years, p=NS; LVEF 60+/-4%, p<0.05). CD14 genotyping was performed using a PCR-RFLP technique.
Results:
Among CHF patients, the frequency of the T allele was lower (38% vs. 48%, p<0.05) and the frequency of the C allele higher (62 % vs. 52 %, p<0.05) than among controls. The distribution of CD14 genotypes in healthy controls was as follows: CC 32%, CT 40%, and TT 28%. Among CHF patients, the TT genotype was significantly underrepresented compared to controls: CC 38%, CT 48%, and TT 14% (p<0.05).
Conclusions:
The C -260T polymorphism of CD14 seems to influence the susceptibility for the development of CHF. The T allele is less frequent among CHF patients than among controls. The TT genotype could be a new genetic protective factor against the development of CHF.
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Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...