rs11682175 - EIF2S2P7 - ACTG1P22
Magnitude 4.5 · 8 studies on file
Reported associations
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Genome-wide meta-analyses of cross substance use disorders in diverse populations. - Molecular psychiatry (2026) · Lai D, Zhang M, Green N, Abreu M, Schwantes-An TH, Parker CC, Zhang S, Jin F, Sun A, Zhang P, Edenberg HJ, Liu Y, Foroud T · PubMed 41057643
Substance use disorders (SUDs, including alcohol, cannabis, opioids, and tobacco) represent significant public health challenges. The estimated heritability of SUDs is ~50% and many individuals experience multiple SUDs concurrently. Studies have demonstrated the existence of genes shared across multiple SUDs, and identifying these SUD-shared genes is critical to developing novel prevention and treatment strategies. Here, we conducted the largest cross SUD meta-analysis to date to identify SUD-shared genes using samples genetically similar to 1000 Genomes Project European (1kg-EUR-like), African (1kg-AFR-like), and American mixed (1kg-AMR-like) populations. We defined variants that had the same direction of effects across different SUDs (i.e., concordant variants) as SUD-shared. In total, w
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Genome-wide association analyses identify distinct genetic architectures for early-onset and late-onset depression. - Nature genetics (2025) · Shorter JR, Pasman JA, Kurvits S, Jangmo A, Naamanka J, Harder A, Hagen E, Kowalec K, Frilander N, Zetterberg R, Meijsen JJ, Gådin JR, Bergstedt J, Xiong Y, Hägg S, Landén M, Rück C, Wallert J, Skalkidou A, Koch E, Akdeniz BC, Frei O, Hovatta I, Reichborn-Kjennerud T, Werge TM, Sullivan PF, Andreassen OA, Tesli M, Lehto K, Buil A, Lu Y · PubMed 41233554
Major depressive disorder (MDD) is a common and heterogeneous disorder of complex etiology. Studying more homogeneous groups stratified according to clinical characteristics, such as age of onset, can improve the identification of the underlying genetic causes and lead to more targeted treatment strategies. We leveraged Nordic biobanks with longitudinal health registries to investigate differences in the genetic architectures of early-onset (eoMDD; n = 46,708 cases) and late-onset (loMDD; n = 37,168 cases) MDD. We identified 12 genomic loci for eoMDD and two for loMDD. Overall, the two MDD subtypes correlated moderately (genetic correlation, r = 0.58) and differed in their genetic correlations with related traits. These findings suggest that eoMDD and loMDD have partially distinc
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Depression pathophysiology, risk prediction of recurrence and comorbid psychiatric disorders using genome-wide analyses. - Nature medicine (2023) · Als TD, Kurki MI, Grove J, Voloudakis G, Therrien K, Tasanko E, Nielsen TT, Naamanka J, Veerapen K, Levey DF, Bendl J, Bybjerg-Grauholm J, Zeng B, Demontis D, Rosengren A, Athanasiadis G, Bækved-Hansen M, Qvist P, Bragi Walters G, Thorgeirsson T, Stefánsson H, Musliner KL, Rajagopal VM, Farajzadeh L, Thirstrup J, Vilhjálmsson BJ, McGrath JJ, Mattheisen M, Meier S, Agerbo E, Stefánsson K, Nordentoft M, Werge T, Hougaard DM, Mortensen PB, Stein MB, Gelernter J, Hovatta I, Roussos P, Daly MJ, Mors O, Palotie A, Børglum AD · PubMed 37464041
Depression is a common psychiatric disorder and a leading cause of disability worldwide. Here we conducted a genome-wide association study meta-analysis of six datasets, including >1.3 million individuals (371,184 with depression) and identified 243 risk loci. Overall, 64 loci were new, including genes encoding glutamate and GABA receptors, which are targets for antidepressant drugs. Intersection with functional genomics data prioritized likely causal genes and revealed new enrichment of prenatal GABAergic neurons, astrocytes and oligodendrocyte lineages. We found depression to be highly polygenic, with ~11,700 variants explaining 90% of the single-nucleotide polymorphism heritability, estimating that >95% of risk variants for other psychiatric disorders (anxiety, schizophrenia, bipolar di
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Genetic Underpinnings of the Transition From Alcohol Consumption to Alcohol Use Disorder: Shared and Unique Genetic Architectures in a Cross-Ancestry Sample. - The American journal of psychiatry (2023) · Kember RL, Vickers-Smith R, Zhou H, Xu H, Jennings M, Dao C, Davis L, Sanchez-Roige S, Justice AC, Gelernter J, Vujkovic M, Kranzler HR · PubMed 37282553
Recent genome-wide association studies (GWASs) of alcohol-related phenotypes have uncovered key differences in the underlying genetic architectures of alcohol consumption and alcohol use disorder (AUD), with the two traits having opposite genetic correlations with psychiatric disorders. Understanding the genetic factors that underlie the transition from heavy drinking to AUD has important theoretical and clinical implications. The authors used longitudinal data from the cross-ancestry Million Veteran Program sample to identify 1) novel loci associated with AUD and alcohol consumption (measured by the score on the consumption subscale of the Alcohol Use Disorders Identification Test [AUDIT-C]), 2) the impact of phenotypic variation on genetic discovery, and 3) genetic variants with direct e
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Discovery of genomic loci of the human cerebral cortex using genetically informed brain atlases. - Science (New York, N.Y.) (2022) · Makowski C, van der Meer D, Dong W, Wang H, Wu Y, Zou J, Liu C, Rosenthal SB, Hagler DJ, Fan CC, Kremen WS, Andreassen OA, Jernigan TL, Dale AM, Zhang K, Visscher PM, Yang J, Chen CH · PubMed 35113692
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. Thus, a mixed
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Novel loci and potential mechanisms of major depressive disorder, bipolar disorder, and schizophrenia. - Science China. Life sciences (2022) · Wang H, Yi Z, Shi T · PubMed 34159505
Different psychiatric disorders share genetic relationships and pleiotropic loci to certain extent. We integrated and analyzed datasets related to major depressive disorder (MDD), bipolar disorder (BIP), and schizophrenia (SCZ) from the Psychiatric Genomics Consortium using multitrait analysis of genome-wide association analysis (MTAG). MTAG significantly increased the effective sample size from 99,773 to 119,754 for MDD, from 909,061 to 1,450,972 for BIP, and from 856,677 to 940,613 for SCZ. We discovered 7, 32, and 43 novel lead single nucleotide polymorphisms (SNPs) and 1, 6, and 3 novel causal SNPs for MDD, BIP, and SCZ, respectively, after fine-mapping. We identified rs8039305 in the FURIN gene as a novel pleiotropic locus across the three disorders. We performed marker analysis of ge
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Multi-trait analysis for genome-wide association study of five psychiatric disorders. - Translational psychiatry (2021) · Wu Y, Cao H, Baranova A, Huang H, Li S, Cai L, Rao S, Dai M, Xie M, Dou Y, Hao Q, Zhu L, Zhang X, Yao Y, Zhang F, Xu M, Wang Q · PubMed 32606422
We conducted a cross-trait meta-analysis of genome-wide association study on schizophrenia (SCZ) (n = 65,967), bipolar disorder (BD) (n = 41,653), autism spectrum disorder (ASD) (n = 46,350), attention deficit hyperactivity disorder (ADHD) (n = 55,374), and depression (DEP) (n = 688,809). After the meta-analysis, the number of genomic loci increased from 14 to 19 in ADHD, from 3 to 10 in ASD, from 45 to 57 in DEP, from 8 to 54 in BD, and from 64 to 87 in SCZ. We observed significant enrichment of overlapping genes among different disorders and identified a panel of cross-disorder genes. A total of seven genes were found being commonly associated with four out of five psychiatric conditions, namely GABBR1, GLT8D1, HIST1H1B, HIST1H2BN, HIST1H4L, KCNB1, and DCC. The SORCS3
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The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls. - Biological psychiatry (2021) · Coleman JRI, Gaspar HA, Bryois J, Breen G · PubMed 31926635
Mood disorders (including major depressive disorder and bipolar disorder) affect 10% to 20% of the population. They range from brief, mild episodes to severe, incapacitating conditions that markedly impact lives. Multiple approaches have shown considerable sharing of risk factors across mood disorders despite their diagnostic distinction. To clarify the shared molecular genetic basis of major depressive disorder and bipolar disorder and to highlight disorder-specific associations, we meta-analyzed data from the latest Psychiatric Genomics Consortium genome-wide association studies of major depression (including data from 23andMe) and bipolar disorder, and an additional major depressive disorder cohort from UK Biobank (total: 185,285 cases, 439,741 controls; nonoverlapping N = 609,424). Se
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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Psychiatric genetic risk and prevention High
Multiple genome-wide associations with substance use disorder and mood traits warrant professional assessment
Discuss findings with mental health professional to plan monitoring and early intervention strategy
- GWAS_CATALOG 41057643
- PMID 29500382
- PMID 31926635
Lifestyle
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Psychoactive substance misuse High
Increased genetic susceptibility to substance use disorder warrants behavioral caution and harm reduction
Minimize alcohol and recreational drug use; discuss any use with healthcare provider
- GWAS_CATALOG 41057643
Screening
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Mood symptoms and irritability High
Variant associated with irritable mood trait and mood disorders; early detection enables early intervention
Track mood and irritability regularly, report persistent symptoms to healthcare provider
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Substance use disorder assessment High
Rs11682175 T allele shows genome-wide significant association with substance use disorder risk (p=3e-9, n=1.46M)
Discuss NIDA Quick Screen or ASSIST with healthcare provider for baseline assessment
- GWAS_CATALOG 41057643