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    Home > Biochemistry News > Biotechnology News > Nature sub-publishes show that eczema is related to rare genetic mutations

    Nature sub-publishes show that eczema is related to rare genetic mutations

    • Last Update: 2021-12-26
    • Source: Internet
    • Author: User
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    Picture: Skin cell nucleus (blue) and the outermost layer of the skin (green) stratum corneum, which is the characteristic thickening of atopic dermatitis


    Source: MDC Lee Lab

    Up to 20% of children and 3% of adults worldwide suffer from eczema, a chronic inflammatory skin disease, also known as atopic dermatitis


    Researchers estimate from family and twin studies that two-thirds of eczema susceptibility is due to genetic factors, and environmental factors account for one-third of disease risk


    The larger the scale of the research, the greater the chance of finding rare genetic variants

    The DNA sequence of two people differs approximately every 1,000 base pairs


    The most common genotyping method is to use DNA microarrays-the chip contains as many as millions of snp DNA fragments


    Anti-inflammatory enzyme inactivation

    "Using this method, we found 11 new variants with a frequency of less than 5% in the population," Marenholz reports


    DUSP1 is involved in the inactivation of anti-inflammatory enzymes


    New treatments are coming soon

    Atopic dermatitis is usually the first allergic disease in infancy, and it may also be the first step in the so-called "atopic march"


    Marenholz said optimistically: "The power of genome-wide research lies in the ability to discover previously unknown disease mechanisms-these may become promising targets for new treatments


    Article title

    Analysis of rare variants in eczema found exon variants in DUSP1, NOTCH4 and SLC9A4


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