Methods for statistical fine-mapping and their applications to auto-immune diseases

• Published in: Seminars in immunopathology Vol. 44; no. 1; pp. 101 - 113
• Main Authors: Wang, Qingbo S., Huang, Hailiang
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 2022; Springer Nature B.V
• Subjects: Autoimmune diseases; Biomedical and Life Sciences; Biomedicine; Gene mapping; Genome-wide association studies; Genome-Wide Association Study - methods; Genomes; Humans; Immune System Diseases - genetics; Immunological diseases; Immunology; Internal Medicine; Pathology; Phenotype; Phenotypes; Polymorphism, Single Nucleotide; Review; Statistics; IBD genetics; Statistical fine-mapping; Functionally informed fine-mapping; Inflammatory bowel diseases; Autoimmune disorders; Bayesian
• ISSN: 1863-2297; 1863-2300; 1863-2300
• DOI: 10.1007/s00281-021-00902-8

Although genome-wide association studies (GWAS) have identified thousands of loci in the human genome that are associated with different traits, understanding the biological mechanisms underlying the association signals identified in GWAS remains challenging. Statistical fine-mapping is a method aiming to refine GWAS signals by evaluating which variant(s) are truly causal to the phenotype. Here, we review the types of statistical fine-mapping methods that have been widely used to date, with a focus on recently developed functionally informed fine-mapping (FIFM) methods that utilize functional annotations. We then systematically review the applications of statistical fine-mapping in autoimmune disease studies to highlight the value of statistical fine-mapping in biological contexts.