rs1019866379 - LINC00992

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-Wide Association Study Identifies 4 Novel Risk Loci for Small Intestinal Neuroendocrine Tumors Including a Missense Mutation in LGR5. - Gastroenterology (2023) · Giri AK, Aavikko M, Wartiovaara L, Lemmetyinen T, Karjalainen J, Mehtonen J, Palin K, Välimäki N, Tamlander M, Saikkonen R, Karhu A, Morgunova E, Sun B, Runz H, Palta P, Luo S, Joensuu H, Mäkelä TP, Kostiainen I, Schalin-Jäntti C, Palotie A, Aaltonen LA, Ollila S, Daly MJ · PubMed 37453564

  Small intestinal neuroendocrine tumor (SI-NET) is a rare disease, but its incidence has increased over the past 4 decades. Understanding the genetic risk factors underlying SI-NETs can help in disease prevention and may provide clinically beneficial markers for diagnosis. Here the results of the largest genome-wide association study of SI-NETs performed to date with 405 cases and 614,666 controls are reported. Samples from 307 patients with SI-NETs and 287,137 controls in the FinnGen study were used for the identification of SI-NET risk-associated genetic variants. The results were also meta-analyzed with summary statistics from the UK Biobank (n = 98 patients with SI-NET and n = 327,529 controls). We identified 6 genome-wide significant (P < 5 × 10 ) loci associated with SI-NET risk,

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