rs10838703 - SPI1, SLC39A13-AS1

Magnitude 2.2 · 3 studies on file

Reported associations

• Genome-wide association study of cerebral small vessel disease reveals established and novel loci. - Brain : a journal of neurology (2020) · Chung J, Marini S, Pera J, Norrving B, Jimenez-Conde J, Roquer J, Fernandez-Cadenas I, Tirschwell DL, Selim M, Brown DL, Silliman SL, Worrall BB, Meschia JF, Demel S, Greenberg SM, Slowik A, Lindgren A, Schmidt R, Traylor M, Sargurupremraj M, Tiedt S, Malik R, Debette S, Dichgans M, Langefeld CD, Woo D, Rosand J, Anderson CD · PubMed 31430377

  Intracerebral haemorrhage and small vessel ischaemic stroke (SVS) are the most acute manifestations of cerebral small vessel disease, with no established preventive approaches beyond hypertension management. Combined genome-wide association study (GWAS) of these two correlated diseases may improve statistical power to detect novel genetic factors for cerebral small vessel disease, elucidating underlying disease mechanisms that may form the basis for future treatments. Because intracerebral haemorrhage location is an adequate surrogate for distinct histopathological variants of cerebral small vessel disease (lobar for cerebral amyloid angiopathy and non-lobar for arteriolosclerosis), we performed GWAS of intracerebral haemorrhage by location in 1813 subjects (755 lobar and 1005 non-lobar) a

• 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

• Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants - Unknown journal (n.d.) · Unknown authors · PubMed 37945903

  [INTRO] Introduction [INTRO] The transferability and clinical value of genetic risk scores (GRS) across populations remains limited due to an imbalance in genetic studies across ancestrally diverse populations. We conducted a multi-ancestry genome-wide association study (GWAS) of 156,319 prostate cancer cases and 788,443 controls of European, African, Asian, and Hispanic men, reflecting a 57% increase in the number of non-European cases over previous prostate cancer GWAS. We identified 187 novel risk variants for prostate cancer, increasing the total number of risk variants to 451. An externally replicated multi-ancestry GRS was associated with risk that ranged from 1.8 (per standard deviation (SD)) in African ancestry men to 2.2 in European ancestry men. The GRS was associated with a gre

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