Expressive

rs11813268 - STN1 - SLK

Magnitude 2.2 · 8 studies on file

Reported associations

  • Genetic landscape and functional exploration of kidney cancer predisposition in cross-ancestral populations. - Nature communications (2026) · Dai H, Chu X, Du H, Yang S, Yao Y, Yu X, Zhao Y, Dong P, Lyu Z, Wang W, Li H, Mi Z, Sheng C, Li X, Zheng H, Song F, Song F, Sun M, Dai J, Lan Q, Rothman N, Hu Z, Wei Q, Ye D, Yao X, Jia W, Chanock SJ, Shen H, Purdue MP, Li MJ, Chen K · PubMed 42000752

    Renal cell carcinoma (RCC) is the most common type of kidney cancer, but its genetic architecture has not been fully characterized, particularly in Asian populations. Here, we perform a multi-ancestry meta-analysis of 33,712 RCC cases and 845,786 controls, including individuals of East Asian (5,313 cases and 96,912 controls), European (25,890 cases and 743,585 controls), African American (897 cases and 3,109 controls), and Latin American ancestry (1,612 cases and 2,180 controls), which unveils 10 novel RCC-associated loci and a Chinese-specific locus at 12p13.33. Leveraging genome-wide association study (GWAS) data and cross-ancestry expression quantitative trait loci (eQTLs) mapping from 266 kidney tissues, we refine the identification of putative causal variants and genes implicated in R

  • Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions. - Nature genetics (2024) · Purdue MP, Dutta D, Machiela MJ, Gorman BR, Winter T, Okuhara D, Cleland S, Ferreiro-Iglesias A, Scheet P, Liu A, Wu C, Antwi SO, Larkin J, Zequi SC, Sun M, Hikino K, Hajiran A, Lawson KA, Cárcano F, Blanchet O, Shuch B, Nepple KG, Margue G, Sundi D, Diver WR, Folgueira MAAK, van Bokhoven A, Neffa F, Brown KM, Hofmann JN, Rhee J, Yeager M, Cole NR, Hicks BD, Manning MR, Hutchinson AA, Rothman N, Huang WY, Linehan WM, Lori A, Ferragu M, Zidane-Marinnes M, Serrano SV, Magnabosco WJ, Vilas A, Decia R, Carusso F, Graham LS, Anderson K, Bilen MA, Arciero C, Pellegrin I, Ricard S, Scelo G, Banks RE, Vasudev NS, Soomro N, Stewart GD, Adeyoju A, Bromage S, Hrouda D, Gibbons N, Patel P, Sullivan M, Protheroe A, Nugent FI, Fournier MJ, Zhang X, Martin LJ, Komisarenko M, Eisen T, Cunningham SA, Connolly DC, Uzzo RG, Zaridze D, Mukeria A, Holcatova I, Hornakova A, Foretova L, Janout V, Mates D, Jinga V, Rascu S, Mijuskovic M, Savic S, Milosavljevic S, Gaborieau V, Abedi-Ardekani B, McKay J, Johansson M, Phouthavongsy L, Hayman L, Li J, Lungu I, Bezerra SM, Souza AG, Sares CTG, Reis RB, Gallucci FP, Cordeiro MD, Pomerantz M, Lee GM, Freedman ML, Jeong A, Greenberg SE, Sanchez A, Thompson RH, Sharma V, Thiel DD, Ball CT, Abreu D, Lam ET, Nahas WC, Master VA, Patel AV, Bernhard JC, Freedman ND, Bigot P, Reis RM, Colli LM, Finelli A, Manley BJ, Terao C, Choueiri TK, Carraro DM, Houlston R, Eckel-Passow JE, Abbosh PH, Ganna A, Brennan P, Gu J, Chanock SJ · PubMed 38671320

    Here, in a multi-ancestry genome-wide association study meta-analysis of kidney cancer (29,020 cases and 835,670 controls), we identified 63 susceptibility regions (50 novel) containing 108 independent risk loci. In analyses stratified by subtype, 52 regions (78 loci) were associated with clear cell renal cell carcinoma (RCC) and 6 regions (7 loci) with papillary RCC. Notably, we report a variant common in African ancestry individuals ( rs7629500 ) in the 3' untranslated region of VHL, nearly tripling clear cell RCC risk (odds ratio 2.72, 95% confidence interval 2.23-3.30). In cis-expression quantitative trait locus analyses, 48 variants from 34 regions point toward 83 candidate genes. Enrichment of hypoxia-inducible factor-binding sites underscores the importance of hypoxia-related mechan

  • Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts - Unknown journal (n.d.) · Unknown authors · PubMed 32887889

    ABSTRACT: Deciphering the shared genetic basis of distinct cancers has the potential to elucidate carcinogenic mechanisms and inform broadly applicable risk assessment efforts. Here, we undertake genome-wide association studies (GWAS) and comprehensive evaluations of heritability and pleiotropy across 18 cancer types in two large, population-based cohorts: the UK Biobank (408,786 European ancestry individuals; 48,961 cancer cases) and the Kaiser Permanente Genetic Epidemiology Research on Adult Health and Aging cohorts (66,526 European ancestry individuals; 16,001 cancer cases). The GWAS detect 21 genome-wide significant associations independent of previously reported results. Investigations of pleiotropy identify 12 cancer pairs exhibiting either positive or negative genetic correlations;

  • Deciphering the genetics and mechanisms of predisposition to multiple myeloma - Unknown journal (n.d.) · Unknown authors · PubMed 39103364

    ABSTRACT: Multiple myeloma (MM) is an incurable malignancy of plasma cells. Epidemiological studies indicate a substantial heritable component, but the underlying mechanisms remain unclear. Here, in a genome-wide association study totaling 10,906 cases and 366,221 controls, we identify 35 MM risk loci, 12 of which are novel. Through functional fine-mapping and Mendelian randomization, we uncover two causal mechanisms for inherited MM risk: longer telomeres; and elevated levels of B-cell maturation antigen (BCMA) and interleukin-5 receptor alpha (IL5RA) in plasma. The largest increase in BCMA and IL5RA levels is mediated by the risk variant rs34562254-A at TNFRSF13B. While individuals with loss-of-function variants in TNFRSF13B develop B-cell immunodeficiency, rs34562254-A exerts a gain-of-

  • Multi-ancestry GWAS meta-analyses of lung cancer reveal susceptibility loci and elucidate smoking-independent genetic risk - Unknown journal (n.d.) · Unknown authors · PubMed 39366959

    ABSTRACT: Lung cancer remains the leading cause of cancer mortality, despite declining smoking rates. Previous lung cancer GWAS have identified numerous loci, but separating the genetic risks of lung cancer and smoking behavioral susceptibility remains challenging. Here, we perform multi-ancestry GWAS meta-analyses of lung cancer using the Million Veteran Program cohort (approximately 95% male cases) and a previous study of European-ancestry individuals, jointly comprising 42,102 cases and 181,270 controls, followed by replication in an independent cohort of 19,404 cases and 17,378 controls. We then carry out conditional meta-analyses on cigarettes per day and identify two novel, replicated loci, including the 19p13.11 pleiotropic cancer locus in squamous cell lung carcinoma. Overall, we

  • Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis - Unknown journal (n.d.) · Unknown authors · PubMed 37340002

    ABSTRACT: Integrating genomic data of multiple cancers allows de novo cancer grouping and elucidating the shared genetic basis across cancers. Here, we conduct the pan-cancer and cross-population genome-wide association study (GWAS) meta-analysis and replication studies on 13 cancers including 250,015 East Asians (Biobank Japan) and 377,441 Europeans (UK Biobank). We identify ten cancer risk variants including five pleiotropic associations (e.g., rs2076295 at DSP on 6p24 associated with lung cancer and rs2525548 at TRIM4 on 7q22 nominally associated with six cancers). Quantifying shared heritability among the cancers detects positive genetic correlations between breast and prostate cancer across populations. Common genetic components increase the statistical power, and the large-scale meta

  • Genome-wide association study identifies multiple risk loci for renal cell carcinoma - Unknown journal (n.d.) · Unknown authors · PubMed 28598434

    ABSTRACT: Previous genome-wide association studies (GWAS) have identified six risk loci for renal cell carcinoma (RCC). We conducted a meta-analysis of two new scans of 5,198 cases and 7,331 controls together with four existing scans, totalling 10,784 cases and 20,406 controls of European ancestry. Twenty-four loci were tested in an additional 3,182 cases and 6,301 controls. We confirm the six known RCC risk loci and identify seven new loci at 1p32.3 (rs4381241, P=3.1 × 10−10), 3p22.1 (rs67311347, P=2.5 × 10−8), 3q26.2 (rs10936602, P=8.8 × 10−9), 8p21.3 (rs2241261, P=5.8 × 10−9), 10q24.33-q25.1 (rs11813268, P=3.9 × 10−8), 11q22.3 (rs74911261, P=2.1 × 10−10) and 14q24.2 (rs4903064, P=2.2 × 10−24). Expression quantitative trait analyses suggest plausible candidate genes

  • 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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