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Related Experiment Video

Updated: Apr 17, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
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[TOMM40 gene polymorphism association with lipid profile].

R R Salakhov, I A Goncharova, O A Makeeva

    Genetika
    |February 26, 2015
    PubMed
    Summary

    Genetic variations in the TOMM40 gene, specifically rs741780, rs1160985, and rs8106922, are linked to triglyceride levels. Other TOMM40 variants show population differences and associations with cholesterol and blood pressure.

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    Area of Science:

    • Genetics
    • Population Genetics
    • Biochemistry

    Background:

    • The TOMM40 gene plays a role in lipid metabolism and cardiovascular health.
    • Polymorphisms in TOMM40 have been investigated for their association with various health outcomes.

    Purpose of the Study:

    • To analyze allele and genotype frequencies of specific TOMM40 gene variants in ethnic Russians from Kemerovo.
    • To investigate linkage disequilibrium patterns among these variants.
    • To explore associations between TOMM40 variants and lipid profiles, and blood pressure.

    Main Methods:

    • Genotyping of five TOMM40 polymorphic variants (rs741780, rs157580, rs1160985, rs2075650, rs8106922).
    • Analysis of allele and genotype frequencies.
    • Linkage disequilibrium analysis to identify haplotype blocks.
    • Statistical analysis to determine associations with serum lipids and blood pressure.

    Main Results:

    • A haplotype block of 2 Kb was identified, encompassing rs741780, rs1160985, and rs8106922.
    • Significant differences in allele and genotype frequencies for rs2075650 and rs157580 were observed between Kemerovo Russians and other European populations.
    • TOMM40 variants rs741780, rs1160985, and rs8106922 were associated with serum triglyceride concentrations.
    • In men, rs2075650 was associated with low-density lipoprotein cholesterol levels.
    • In women, rs741780 was associated with diastolic blood pressure.

    Conclusions:

    • Specific TOMM40 gene variants exhibit population-specific frequencies in ethnic Russians from Kemerovo.
    • TOMM40 polymorphisms rs741780, rs1160985, and rs8106922 are associated with triglyceride levels.
    • Sex-specific associations were found between TOMM40 variants and lipid profiles (LDL-C in men) and blood pressure (diastolic BP in women).