rs118158982 - HIF1AN - Metazoa_SRP

Magnitude 2.0 · 8 studies on file

Reported associations

• A longitudinal genome-wide association study of bone mineral density mean and variability in the UK Biobank. - Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA (2023) · He D, Liu H, Wei W, Zhao Y, Cai Q, Shi S, Chu X, Qin X, Zhang N, Xu P, Zhang F · PubMed 37500982

  Bone mineral density (BMD) is an essential predictor of osteoporosis and fracture. We conducted a genome-wide trajectory analysis of BMD and analyzed the BMD change. This study aimed to identify the genetic architecture and potential biomarkers of BMD. Our analysis included 141,261 white participants from the UK Biobank with heel BMD phenotype data. We used a genome-wide trajectory analysis tool, TrajGWAS, to conduct a genome-wide association study (GWAS) of BMD. Then, we validated our findings in previously reported BMD genetic associations and performed replication analysis in the Asian participants. Finally, gene-set enrichment analysis (GSEA) of the identified candidate genes was conducted using the FUMA platform. A total of 52 genes associated with BMD trajectory mean were identified,

• Boosting Schizophrenia Genetics by Utilizing Genetic Overlap With Brain Morphology. - Biological psychiatry (2022) · van der Meer D, Shadrin AA, O'Connell K, Bettella F, Djurovic S, Wolfers T, Alnæs D, Agartz I, Smeland OB, Melle I, Sánchez JM, Linden DEJ, Dale AM, Westlye LT, Andreassen OA, Frei O, Kaufmann T · PubMed 35164939

  Schizophrenia is a complex polygenic disorder with subtle, distributed abnormalities in brain morphology. There are indications of shared genetic architecture between schizophrenia and brain measures despite low genetic correlations. Through the use of analytical methods that allow for mixed directions of effects, this overlap may be leveraged to improve our understanding of underlying mechanisms of schizophrenia and enrich polygenic risk prediction outcome. We ran a multivariate genome-wide analysis of 175 brain morphology measures using data from 33,735 participants of the UK Biobank and analyzed the results in a conditional false discovery rate together with schizophrenia genome-wide association study summary statistics of the Psychiatric Genomics Consortium (PGC) Wave 3. We subsequentl

• Understanding the genetic determinants of the brain with MOSTest - Unknown journal (n.d.) · Unknown authors · PubMed 32665545

  ABSTRACT: Regional brain morphology has a complex genetic architecture, consisting of many common polymorphisms with small individual effects. This has proven challenging for genome-wide association studies (GWAS). Due to the distributed nature of genetic signal across brain regions, multivariate analysis of regional measures may enhance discovery of genetic variants. Current multivariate approaches to GWAS are ill-suited for complex, large-scale data of this kind. Here, we introduce the Multivariate Omnibus Statistical Test (MOSTest), with an efficient computational design enabling rapid and reliable inference, and apply it to 171 regional brain morphology measures from 26,502 UK Biobank participants. At the conventional genome-wide significance threshold of α = 5 × 10−8, MOS

• Discovery of genomic loci of the human cerebral cortex using genetically informed brain atlases* - Unknown journal (n.d.) · Unknown authors · PubMed 35113692

  ABSTRACT: To determine the impact of genetic variants on the brain, we used genetically-informed brain atlases in genome-wide association studies of regional cortical surface area and thickness in 39,898 adults and 9136 children. We uncovered 440 genome-wide significant loci in the discovery cohort and 800 from a post-hoc combined meta-analysis. Loci in adulthood were largely captured in childhood, showing signatures of negative selection, and were linked to early neurodevelopment and pathways associated with neuropsychiatric risk. Opposing gradations of decreased surface area and increased thickness were associated with common inversion polymorphisms. Inferior frontal regions, encompassing Broca's area which is important for speech, were enriched for human-specific genomic elements. Thu

• The genetic architecture of human cortical folding - Unknown journal (n.d.) · Unknown authors · PubMed 34910505

  ABSTRACT: The first genome-wide study of sulcal depth shows that it is highly genetically discoverable, associated with neurodevelopment. The folding of the human cerebral cortex is a highly genetically regulated process that allows for a much larger surface area to fit into the cranial vault and optimizes functional organization. Sulcal depth is a robust yet understudied measure of localized folding, previously associated with multiple neurodevelopmental disorders. Here, we report the first genome-wide association study of sulcal depth. Through the multivariate omnibus statistical test (MOSTest) applied to vertex-wise measures from 33,748 U.K. Biobank participants (mean age, 64.3 years; 52.0% female), we identified 856 genome-wide significant loci (P < 5 × 10−8). Comparisons with corti

• Genome-wide association analysis of 19,629 individuals identifies variants influencing regional brain volumes and refines their genetic co-architecture with cognitive and mental health traits - Unknown journal (n.d.) · Unknown authors · PubMed 31676860

  ABSTRACT: Volumetric variations of human brain are heritable and are associated with many brain-related complex traits. Here we performed genome-wide association studies (GWAS) of 101 brain volumetric phenotypes using the UK Biobank (UKB) sample including 19,629 participants. GWAS identified 365 independent genetic variants exceeding significance threshold of 4.9 × 10−10, adjusted for testing multiple phenotypes. Gene-based association study found 157 associated genes (124 new), and functional gene mapping analysis linked 146 additional genes. Many of the discovered genetic variants and genes have previously been implicated in cognitive and mental health traits. Using genome-wide polygenic risk score prediction, more than 6% of phenotypic variance (P = 3.13 × 10−24) in four other ind

• Vertex-wise multivariate genome-wide association study identifies 780 unique genetic loci associated with cortical morphology - Unknown journal (n.d.) · Unknown authors · PubMed 34560273

  ABSTRACT: Brain morphology has been shown to be highly heritable, yet only a small portion of the heritability is explained by the genetic variants discovered so far. Here we extended the Multivariate Omnibus Statistical Test (MOSTest) and applied it to genome-wide association studies (GWAS) of vertex-wise structural magnetic resonance imaging (MRI) cortical measures from N=35,657 participants in the UK Biobank. We identified 695 loci for cortical surface area and 539 for cortical thickness, in total 780 unique genetic loci associated with cortical morphology robustly replicated in 8,060 children of mixed ethnicity from the Adolescent Brain Cognitive Development (ABCD) Study®. This reflects more than 8-fold increase in genetic discovery at no cost to generalizability compared to the commo

• Larger cerebral cortex is genetically correlated with greater frontal area and dorsal thickness - Unknown journal (n.d.) · Unknown authors · PubMed 36893272

  ABSTRACT: Significance Adjusting vs. retaining global measures in analysis of brain MRI data has been a long-standing question and can have important implications for genomic studies of the cortex. Adjusting for global measures ensures that results for regions of interest are not confounded by overall larger brain size. However, adjusting for globals may throw away important signal when total and regional measures are correlated. We show that retaining vs. adjusting for global brain measures in genomic studies impacts gene discovery, particularly for fronto-parietal cortex. Understanding the genetic factors that contribute to expanded association areas in the human brain, such as the prefrontal cortex, can help provide mechanistic insight into higher human cognition and its unique developm

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