Neolithic introgression of IL23R-related protection against chronic inflammatory bowel diseases in modern Europeans.

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Tác giả: Hauke Busch, Amke Caliebe, Nicolas Antonio da Silva, David Ellinghaus, Elif Kaplan, Daniel Kolbe, Ben Krause-Kyora, Almut Nebel, Stefan Schreiber, Efe Sezgin, Inken Wohlers

Ngôn ngữ: eng

Ký hiệu phân loại: 150.1982 Philosophy and theory

Thông tin xuất bản: Netherlands : EBioMedicine , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 702024

BACKGROUND: The hypomorphic variant rs11209026-A in the IL23R gene provides significant protection against immune-related diseases in Europeans, notably inflammatory bowel diseases (IBD). Today, the A-allele occurs with an average frequency of 5% in Europe. METHODS: This study comprised 251 ancient genomes from Europe spanning over 14,000 years. In these samples, the investigation focused on admixture-informed analyses and selection scans of rs11209026-A and its haplotypes. FINDINGS: rs11209026-A was found at high frequencies in Anatolian Farmers (AF, 18%). AF later introduced the allele into the ancient European gene-pool. Subsequent admixture caused its frequency to decrease and formed the current southwest-to-northeast allele frequency cline in Europe. The geographic distribution of rs11209026-A may influence the gradient in IBD incidence rates that are highest in northern and eastern Europe. INTERPRETATION: Given the dramatic changes from hunting and gathering to agriculture during the Neolithic, AF might have been exposed to selective pressures from a pro-inflammatory lifestyle and diet. Therefore, the protective A-allele may have increased survival by reducing intestinal inflammation and microbiome dysbiosis. The adaptively evolved function of the variant likely contributes to the high efficacy and low side-effects of modern IL-23 neutralisation therapies for chronic inflammatory diseases. FUNDING: German Research Foundation (EXC 2167 390884018 and EXC 2150 390870439).
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