rs114846969 - SMARCA4 - LDLR

Magnitude 2.0 · 8 studies on file

Reported associations

• Multi-ancestry genome-wide association analyses incorporating SNP-by-psychosocial interactions identify novel loci for serum lipids - Translational psychiatry (2025) · Bentley AR, Brown MR, Musani SK, Schwander KL, Winkler TW, Sims M, Kilpeläinen TO, Aschard H, Bartz TM, Bielak LF, Chai JF, Chitrala KN, Franceschini N, Graff M, Guo X, Hartwig FP, Horimoto ARVR, Lim E, Liu Y, Manning AK, Nolte IM, Noordam R, Richard MA, Smith AV, Sung YJ, Vojinovic D, Wang R, Wang Y, Feitosa MF, Harris SE, Lyytikäinen LP, Pistis G, Rauramaa R, van der Most PJ, Ware E, Weiss S, Wen W, Yanek LR, Arking DE, Arnett DK, Ballantyne C, Boerwinkle E, Chen YI, Daviglus ML, de Las Fuentes L, de Vries PS, Delaney JAC, Fretts AM, Ekunwe L, Faul JD, Gallo LC, Heikkinen S, Homuth G, Ikram MA, Isasi CR, Jonas JB, Keltikangas-Järvinen L, Komulainen P, Kraja AT, Krieger JE, Launer L, Liu J, Lohman K, Luik AI, Manichaikul AW, Marques-Vidal P, Milaneschi Y, Mwasongwe SE, O'Connell JR, Rice K, Rich SS, Schreiner PJ, Schwettmann L, Shikany JM, Shu XO, Smith JA, Snieder H, Sotoodehnia N, Tai ES, Taylor KD, Tinker L, Tsai MY, Uitterlinden AG, van Duijn CM, van Heemst D, Waldenberger M, Wallace RB, Wee HL, Weir DR, Wei WB, Willems van Dijk K, Wilson G, Yao J, Young KL, Zhang X, Zhao W, Zhu X, Zonderman AB, Deary IJ, Gieger C, Grabe HJ, Lakka TA, Lehtimäki T, Oldehinkel AJ, Preisig M, Wang YX, Zheng W, Evans MK, Province M, Gauderman J, Gudnason V, Hartman CA, Horta BL, Kardia SLR, Kooperberg C, Liu CT, Mook-Kanamori DO, Penninx BW, Pereira AC, Peyser PA, Psaty BM, Rotter JI, Sim X, North KE, Rao DC, Bierut L, Miller CL, Morrison AC, Rotimi CN, Fornage M, Fox ER · PubMed 40537477

  ABSTRACT: Serum lipid levels, which are influenced by both genetic and environmental factors, are key determinants of cardiometabolic health and are influenced by both genetic and environmental factors. Improving our understanding of their underlying biological mechanisms can have important public health and therapeutic implications. Although psychosocial factors, including depression, anxiety, and perceived social support, are associated with serum lipid levels, it is unknown if they modify the effect of genetic loci that influence lipids. We conducted a genome-wide gene-by-psychosocial factor interaction (G×Psy) study in up to 133,157 individuals to evaluate if G×Psy influences serum lipid levels. We conducted a two-stage meta-analysis of G×Psy using both a one-degree of freedom (1df)

• A genetic map of human metabolism across the allele frequency spectrum - Nature genetics (2025) · Zoodsma M, Beuchel C, Yasmeen S, Kohleick L, Nepal A, Koprulu M, Kronenberg F, Mayr M, Williamson A, Pietzner M, Langenberg C · PubMed 41044249

  ABSTRACT: Genetic studies of human metabolism have been limited in scale and allelic breadth. Here we provide a data-driven map of the genetic regulation of circulating small molecules and lipoprotein characteristics (249 traits) measured using proton nuclear magnetic resonance spectroscopy across the allele frequency spectrum in ~450,000 individuals. Trans-ancestral meta-analyses identify 29,824 locus-metabolite associations mapping to 753 regions with effects largely consistent between men and women and large ancestral groups represented in UK Biobank. We observe and classify extreme genetic pleiotropy, identify regulators of lipid metabolism, and assign effector genes at >100 loci through rare-to-common allelic series. We propose roles for genes less established in metabolic control (

• GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids - HGG advances (2025) · Sun Y, Xu H, Ye K · PubMed 40545721

  ABSTRACT: Summary Previous genome-wide association studies (GWAS) have identified genetic loci associated with the circulating levels of fatty acids (FAs), but the biological mechanisms of these genetic associations remain largely unexplored. Here, we conducted GWAS to identify additional genetic loci for 19 circulating FA traits in UK Biobank participants of European ancestry (n = 239,268) and five other ancestries (n = 508-4,663). We leveraged the GWAS findings to characterize genetic correlations and colocalized regions among FAs, explore sex differences, examine FA loci influenced by lipoprotein metabolism, and apply statistical fine-mapping to pinpoint putative causal variants. We integrated GWAS signals with multi-omics quantitative trait loci (QTL) to reveal intermediate molecular

• Large-scale multi-omics analyses in Hispanic/Latino populations identify genes for cardiometabolic traits - Nature communications (2025) · Petty LE, Chen HH, Frankel EG, Zhu W, Downie CG, Graff M, Lin P, Sharma P, Zhang X, Scartozzi AC, Roshani R, Landman JM, Boehnke M, Bowden DW, Chambers JC, Mahajan A, McCarthy MI, Ng MCY, Sim X, Spracklen CN, Zhang W, Preuss M, Bottinger EP, Nadkarni GN, Loos RJF, Chen YI, Tan J, Ipp E, Genter P, Emery LS, Louie T, Sofer T, Stilp AM, Taylor KD, Xiang AH, Buchanan TA, Roll K, Gao C, Palmer ND, Norris JM, Wagenknecht LE, Nousome D, Varma R, McKean-Cowdin R, Guo X, Hai Y, Hsueh W, Sandow K, Parra EJ, Cruz M, Valladares-Salgado A, Wacher-Rodarte N, Rotter JI, Goodarzi MO, Rich SS, Bertoni A, Raffel LJ, Nadler JL, Kandeel FR, Duggirala R, Blangero J, Lehman DM, DeFronzo RA, Thameem F, Wang Y, Gahagan S, Blanco E, Burrows R, Huerta-Chagoya A, Florez JC, Tusie-Luna T, González-Villalpando C, Orozco L, Haiman CA, Hanis CL, Rohde R, Whitsel EA, Reiner AP, Kooperberg C, Li Y, Duan Q, Lee M, Correa-Burrows P, Fried SK, North KE, McCormick JB, Fisher-Hoch SP, Gamazon ER, Morris AP, Mercader JM, Highland HM, Below JE · PubMed 40210677

  ABSTRACT: Here, we present a multi-omics study of type 2 diabetes and quantitative blood lipid and lipoprotein traits conducted to date in Hispanic/Latino populations (nmax = 63,184). We conduct a meta-analysis of 16 type 2 diabetes and 19 lipid trait GWAS, identifying 20 genome-wide significant loci for type 2 diabetes, including one novel locus and novel signals at two known loci, based on fine-mapping. We also identify sixty-one genome-wide significant loci across the lipid/lipoprotein traits, including nine novel loci, and novel signals at 19 known loci through fine-mapping. Next, we analyze genetically regulated expression, perform Mendelian randomization, and analyze association with transcriptomic and proteomic measure using multi-omics data from a Hispanic/Latino population. Us

• Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium. - Human molecular genetics (2024) · Jiang MZ, Gaynor SM, Li X, Van Buren E, Stilp A, Buth E, Wang FF, Manansala R, Gogarten SM, Li Z, Polfus LM, Salimi S, Bis JC, Pankratz N, Yanek LR, Durda P, Tracy RP, Rich SS, Rotter JI, Mitchell BD, Lewis JP, Psaty BM, Pratte KA, Silverman EK, Kaplan RC, Avery C, North KE, Mathias RA, Faraday N, Lin H, Wang B, Carson AP, Norwood AF, Gibbs RA, Kooperberg C, Lundin J, Peters U, Dupuis J, Hou L, Fornage M, Benjamin EJ, Reiner AP, Bowler RP, Lin X, Auer PL, Raffield LM · PubMed 38747556

  Inflammation biomarkers can provide valuable insight into the role of inflammatory processes in many diseases and conditions. Sequencing based analyses of such biomarkers can also serve as an exemplar of the genetic architecture of quantitative traits. To evaluate the biological insight, which can be provided by a multi-ancestry, whole-genome based association study, we performed a comprehensive analysis of 21 inflammation biomarkers from up to 38 465 individuals with whole-genome sequencing from the Trans-Omics for Precision Medicine (TOPMed) program (with varying sample size by trait, where the minimum sample size was n = 737 for MMP-1). We identified 22 distinct single-variant associations across 6 traits-E-selectin, intercellular adhesion molecule 1, interleukin-6, lipoprotein-as

• Genome‐Wide Assessment of Shared Genetic Architecture Between Rheumatoid Arthritis and Cardiovascular Diseases - Journal of the American Heart Association (2024) · Guo Y, Chung W, Shan Z, Zhu Z, Costenbader KH, Liang L · PubMed 37947095

  ABSTRACT: Background Patients with rheumatoid arthritis (RA) have a 2‐ to 10‐fold increased risk of cardiovascular disease (CVD), but the biological mechanisms and existence of causality underlying such associations remain to be investigated. We aimed to investigate the genetic associations and underlying mechanisms between RA and CVD by leveraging large‐scale genomic data and genetic cross‐trait analytic approaches. Methods and Results Within UK Biobank data, we examined the genetic correlation, shared genetics, and potential causality between RA (Ncases=6754, Ncontrols=452 384) and cardiovascular diseases (CVD, Ncases=44 238, Ncontrols=414 900) using linkage disequilibrium score regression, cross‐trait meta‐analysis, and Mendelian randomization. We observed significant

• Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation - Nature human behaviour (2024) · Carey CE, Shafee R, Wedow R, Elliott A, Palmer DS, Compitello J, Kanai M, Abbott L, Schultz P, Karczewski KJ, Bryant SC, Cusick CM, Churchhouse C, Howrigan DP, King D, Davey Smith G, Neale BM, Walters RK, Robinson EB · PubMed 38965376

  ABSTRACT: Data within biobanks capture broad yet detailed indices of human variation, but biobank-wide insights can be difficult to extract due to complexity and scale. Here, using large-scale factor analysis, we distill hundreds of variables (diagnoses, assessments and survey items) into 35 latent constructs, using data from unrelated individuals with predominantly estimated European genetic ancestry in UK Biobank. These factors recapitulate known disease classifications, disentangle elements of socioeconomic status, highlight the relevance of psychiatric constructs to health and improve measurement of pro-health behaviours. We go on to demonstrate the power of this approach to clarify genetic signal, enhance discovery and identify associations between underlying phenotypic structure and

• Decreased Circulating Very Small Low-Density Lipoprotein is Likely Causal for Age-Related Macular Degeneration - Ophthalmology science (2024) · Farashi S, Bonelli R, Jackson VE, Ansell BRE, Guymer RH, Bahlo M · PubMed 39091897

  ABSTRACT: Objective Abnormal changes in metabolite levels in serum or plasma have been highlighted in several studies in age-related macular degeneration (AMD), the leading cause of irreversible vision loss. Specific changes in lipid profiles are associated with an increased risk of AMD. Metabolites could thus be used to investigate AMD disease mechanisms or incorporated into AMD risk prediction models. However, whether particular metabolites causally affect the disease has yet to be established. Design A 3-tiered analysis of blood metabolites in the United Kingdom (UK) Biobank cohort to identify metabolites that differ in AMD patients with evidence for a putatively causal role in AMD. Participants A total of 72 376 donors from the UK Biobank cohort including participants with AMD (N = 

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