rs115378818 - TSBP1, TSBP1-AS1

Magnitude 2.2 · 4 studies on file

Reported associations

• Genomic Insights Into Inflammatory Bowel Disease in United States Hispanic Participants: An Ancestry-Focused Study. - Gastroenterology (2026) · Beecham AH, McGovern DPB, Brugger SW, Davis MF, Torres EA, Gomez L, Li D, Lopez-Marte P, Daly MJ, Stevens C, Yang S, Sinha S, Mengesha E, Leavitt J, Damas OM, Quintero MA, Targan SR, Rabizadeh S, Sabic K, Cho JH, Abreu MT, McCauley JL, Haritunians T · PubMed 41661118

  Genetic admixture of United States Hispanic individuals provides a unique opportunity to examine ancestral origins of inflammatory bowel disease (IBD) risk. In ∼7.3K Hispanic participants (1660 IBD cases; 5614 controls), we examined ancestral heterogeneity of IBD clinical phenotypes and sought to identify IBD risk loci that displayed heterogeneity of effect or were ancestry-specific. Association of genetic ancestry with clinical phenotypes was evaluated. We conducted an ancestry-informed genome-wide (GW) association study for IBD, ulcerative colitis, and Crohn's disease (CD) to obtain ancestry-specific effect size estimates for alleles from African (AFR), European (EUR), and Amerindian (AIAN) origin. Ancestry-specific replication was assessed in All of Us Hispanic participants and transf

• Genetic drivers and cellular selection of female mosaic X chromosome loss. - Nature (2024) · Liu A, Genovese G, Zhao Y, Pirinen M, Zekavat SM, Kentistou KA, Yang Z, Yu K, Vlasschaert C, Liu X, Brown DW, Hudjashov G, Gorman BR, Dennis J, Zhou W, Momozawa Y, Pyarajan S, Tuzov V, Pajuste FD, Aavikko M, Sipilä TP, Ghazal A, Huang WY, Freedman ND, Song L, Gardner EJ, Sankaran VG, Palotie A, Ollila HM, Tukiainen T, Chanock SJ, Mägi R, Natarajan P, Daly MJ, Bick A, McCarroll SA, Terao C, Loh PR, Ganna A, Perry JRB, Machiela MJ · PubMed 38867047

  Mosaic loss of the X chromosome (mLOX) is the most common clonal somatic alteration in leukocytes of female individuals , but little is known about its genetic determinants or phenotypic consequences. Here, to address this, we used data from 883,574 female participants across 8 biobanks; 12% of participants exhibited detectable mLOX in approximately 2% of leukocytes. Female participants with mLOX had an increased risk of myeloid and lymphoid leukaemias. Genetic analyses identified 56 common variants associated with mLOX, implicating genes with roles in chromosomal missegregation, cancer predisposition and autoimmune diseases. Exome-sequence analyses identified rare missense variants in FBXO10 that confer a twofold increased risk of mLOX. Only a small fraction of associations was shared wi

• Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program - Unknown journal (n.d.) · Unknown authors · PubMed 39024449

  ABSTRACT: INTRODUCTION: Findings from genome-wide association studies (GWASs) have provided foundational knowledge of the genetic basis of disease, facilitating precision approaches for prevention and treatment. Current GWAS results are limited by underrepresentation of individuals from diverse populations, leading to concerns with generalizability regarding our knowledge of the relationships between genes, traits, and disease. The Department of Veterans Affairs (VA) Million Veteran Program (MVP), one of the largest US-based biobanks, addresses this need; 29% of MVP comprises individuals genetically similar to African (AFR), Admixed American (AMR), and East Asian (EAS) reference populations. With over 635,000 participants and more than 44.3M genotyped variants linked with detailed phenotyp

• The Polygenic and Monogenic Basis of Blood Traits and Diseases - Unknown journal (n.d.) · Unknown authors · PubMed 32888494

  ABSTRACT: Summary Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed cause a significant global health burden. Here we integrate data from UK Biobank and a large-scale international collaborative effort, including data for 563,085 European ancestry participants, and discover 5,106 new genetic variants independently associated with 29 blood cell phenotypes covering a range of variation impacting hematopoiesis. We holistically characterize the genetic architecture of hematopoiesis, assess the relevance of the omnigenic model to blood cell phenotypes, delineate relevant hematopoietic cell states influenced by regulatory genetic variants and gene networks, identify novel splice-altering v

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