rs11039216 - SLC39A13-AS1, SPI1

Magnitude 4.5 · 8 studies on file

Reported associations

• Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways. - Nature genetics (2022) · Watanabe K, Jansen PR, Savage JE, Nandakumar P, Wang X, Hinds DA, Gelernter J, Levey DF, Polimanti R, Stein MB, Van Someren EJW, Smit AB, Posthuma D · PubMed 35835914

  Insomnia is a heritable, highly prevalent sleep disorder for which no sufficient treatment currently exists. Previous genome-wide association studies with up to 1.3 million subjects identified over 200 associated loci. This extreme polygenicity suggested that many more loci remain to be discovered. The current study almost doubled the sample size to 593,724 cases and 1,771,286 controls, thereby increasing statistical power, and identified 554 risk loci (including 364 novel loci). To capitalize on this large number of loci, we propose a novel strategy to prioritize genes using external biological resources and functional interactions between genes across risk loci. Of all 3,898 genes naively implicated from the risk loci, we prioritize 289 and find brain-tissue expression spec

• Genome-Wide Investigation of Maximum Habitual Alcohol Intake in US Veterans in Relation to Alcohol Consumption Traits and Alcohol Use Disorder - Unknown journal (n.d.) · Unknown authors · PubMed 36301540

  ABSTRACT: Key Points Question What is the genetic architecture of maximum habitual alcohol intake (MaxAlc), and how does it compare with other alcohol consumption measures? Findings This genetic association study of MaxAlc in 247 455 European- and African-ancestry individuals identified 15 genome-wide significant loci, including multiple novel associations. MaxAlc was genetically correlated with measures of alcohol-related problems, demonstrated significantly different correlations with psychiatric traits compared with other alcohol consumption traits, and loaded on a factor with alcohol problem traits, while alcohol consumption measures loaded on a separate factor. Meaning These findings suggest that MaxAlc is genetically different from consumption measures in relation to problematic al

• The impact of removing former drinkers from genome-wide association studies of AUDIT-C - Unknown journal (n.d.) · Unknown authors · PubMed 33861876

  ABSTRACT: Background and aims The Alcohol Use Disorders Identification Test-Consumption (AUDIT-C) questionnaire screens for harmful drinking using a 12-month timeframe. A score of 0 is assigned to individuals who report abstaining from alcohol in the past year. However, many middle-age individuals reporting current abstinence are former drinkers (FDs). Because FDs may be more genetically prone to harmful alcohol use than lifelong abstainers (LAs) and are often combined with LAs, we evaluated the impact of differentiating them on the identification of genetic association. Design and Setting The United Kingdom Biobank (UKBB) includes AUDIT-C and alcohol drinker status. Participants 131 510 Europeans, including 5135 FDs. Measurements We compared three genome-wide association (GWAS) analyses t

• Trans-ethnic association study of blood pressure determinants in over 750,000 individuals - Unknown journal (n.d.) · Unknown authors · PubMed 30578418

  ABSTRACT: In this trans-ethnic multi-omic study we reinterpret the genetic architecture of blood pressure to identify genes, tissues, phenome, and medication contexts of blood pressure homeostasis. We discovered 208 novel common blood pressure SNPs and 53 rare variants in GWASs of systolic, diastolic and pulse pressure in up to 776,078 participants from the Million Veteran Program (MVP) and collaborating studies, with analysis of the blood pressure clinical phenome in MVP. Our transcriptome-wide association study detected 4,043 blood pressure associations with genetically-predicted gene expression of 840 genes in 45 tissues, and murine renal single-cell RNA sequencing identified upregulated blood pressure genes in kidney tubule cells. Editorial summary: Analysis of blood pressure data from

• Association analysis in over 329,000 individuals identifies 116 independent variants influencing neuroticism - Unknown journal (n.d.) · Unknown authors · PubMed 29255261

  ABSTRACT: Neuroticism is a relatively stable personality trait characterised by negative emotionality (e.g., worry, guilt); twin study heritability ranges 30 to 50%, and SNP-based heritability ranges 6 to 15%. Increased neuroticism is associated with poorer mental and physical health, translating to high economic burden. Genome-wide association (GWA) studies of neuroticism have identified up to 11 genetic loci. Here we report 116 significant independent loci from a GWA of neuroticism in 329,821 UK Biobank participants; 15 of these replicated at P<.00045 in an unrelated cohort (N = 122,867). Genetic signals were enriched in neuronal genesis and differentiation pathways, and substantial genetic correlations were found between neuroticism and depressive symptoms (rg = .82, SE=.03), major depr

• Genome‐Wide Associations of Global Electrical Heterogeneity ECG Phenotype: The ARIC (Atherosclerosis Risk in Communities) Study and CHS (Cardiovascular Health Study) - Unknown journal (n.d.) · Unknown authors · PubMed 29622589

  ABSTRACT: Background ECG global electrical heterogeneity (GEH) is associated with sudden cardiac death. We hypothesized that a genome‐wide association study would identify genetic loci related to GEH. Methods and Results We tested genotyped and imputed variants in black (N=3057) and white (N=10 769) participants in the ARIC (Atherosclerosis Risk in Communities) study and CHS (Cardiovascular Health Study). GEH (QRS‐T angle, sum absolute QRST integral, spatial ventricular gradient magnitude, elevation, azimuth) was measured on 12‐lead ECGs. Linear regression models were constructed with each GEH variable as an outcome, adjusted for age, sex, height, body mass index, study site, and principal components to account for ancestry. GWAS identified 10 loci that showed genome‐wide signific

• A catalog of genetic loci associated with kidney function from analyses of a million individuals - Unknown journal (n.d.) · Unknown authors · PubMed 31152163

  ABSTRACT: Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these, 147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 Eu

• High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study - Unknown journal (n.d.) · Unknown authors · PubMed 35762941

  ABSTRACT: Purpose To test for causality with regard to the association between blood pressure (BP) and intraocular pressure (IOP) and glaucoma. Methods Single nucleotide polymorphisms (SNPs) associated with BP were identified in a genome-wide association study (GWAS) meta-analysis of 526,001 participants of European ancestry. These SNPs were used to assess the BP versus IOP relationship in a distinct sample (n = 70,832) whose corneal-compensated IOP (IOPcc) was measured. To evaluate the BP versus primary open-angle glaucoma (POAG) relationship, additional Mendelian randomization (MR) analyses were conducted using published GWAS summary statistics. Results Observational analysis revealed a linear relationship between BP traits and IOPcc, with a +0.28 mm Hg increase in IOPcc per 10-mm Hg inc

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