rs12203592 - IRF4

Magnitude 2.8 · 8 studies on file

Reported associations

• Gene-by-environment interactions modulate the infant gut microbiota in asthma and atopy. - The Journal of allergy and clinical immunology (2025) · Stickley SA, Fang ZY, Ambalavanan A, Zhang Y, Zacharias AM, Petersen C, Dai D, Azad MB, Brook JR, Mandhane PJ, Simons E, Moraes TJ, Surette MG, Turvey SE, Subbarao P, Duan Q · PubMed 40187613

  Gut microbiota has been associated with health and susceptibility to childhood diseases, including asthma and allergies. However, the genomic factors contributing to interindividual variations in gut microbiota remain poorly understood. We sought to integrate host genomics with early-life exposures to investigate main and interaction effects on gut microbiota during the first year of life. In addition, we identified gut microbes associated with childhood respiratory (asthma, wheeze) and atopic (atopic dermatitis, food/inhalant sensitization) outcomes. We leveraged microbiome data from infant stool at ages 3 months (N = 779) and 1 year (N = 770) from the CHILD Cohort Study. We identified microbial taxa and co-occurring network clusters associated with asthma and atopy by age 5 years. Genome

• Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease. - Nature genetics (2024) · Western D, Timsina J, Wang L, Wang C, Yang C, Phillips B, Wang Y, Liu M, Ali M, Beric A, Gorijala P, Kohlfeld P, Budde J, Levey AI, Morris JC, Perrin RJ, Ruiz A, Marquié M, Boada M, de Rojas I, Rutledge J, Oh H, Wilson EN, Le Guen Y, Reus LM, Tijms B, Visser PJ, van der Lee SJ, Pijnenburg YAL, Teunissen CE, Del Campo Milan M, Alvarez I, Aguilar M, Greicius MD, Pastor P, Pulford DJ, Ibanez L, Wyss-Coray T, Sung YJ, Cruchaga C · PubMed 39528825

  The integration of quantitative trait loci (QTLs) with disease genome-wide association studies (GWASs) has proven successful in prioritizing candidate genes at disease-associated loci. QTL mapping has been focused on multi-tissue expression QTLs or plasma protein QTLs (pQTLs). We generated a cerebrospinal fluid (CSF) pQTL atlas by measuring 6,361 proteins in 3,506 samples. We identified 3,885 associations for 1,883 proteins, including 2,885 new pQTLs, demonstrating unique genetic regulation in CSF. We identified CSF-enriched pleiotropic regions on chromosome (chr)3q28 near OSTN and chr19q13.32 near APOE that were enriched for neuron specificity and neurological development. We integrated our associations with Alzheimer's disease (AD) through proteome-wide association study (PWAS), colocali

• Exploring the Germline Genetics of In Situ and Invasive Cutaneous Melanoma: A Genome-Wide Association Study Meta-Analysis. - JAMA dermatology (2024) · Ingold N, Seviiri M, Ong JS, Neale RE, Pandeya N, Whiteman DC, Olsen CM, Martin NG, Duffy DL, Khosrotehrani K, Hayward N, Montgomery GW, MacGregor S, Law MH · PubMed 39141363

  It is unknown whether germline genetic factors influence in situ melanoma risk differently than invasive melanoma risk. To determine whether differences in risk of in situ melanoma and invasive melanoma are heritable. Three genome-wide association study meta-analyses were conducted of in situ melanoma vs controls, invasive melanoma vs controls, and in situ vs invasive melanoma (case-case) using 4 population-based genetic cohorts: the UK Biobank, the FinnGen cohort, the QSkin Sun and Health Study, and the Queensland Study of Melanoma: Environmental and Genetic Associations (Q-MEGA). Melanoma status was determined using International Statistical Classification of Diseases and Related Health Problems codes from cancer registry data. Data were collected from 1987 to 2022, and data were analyze

• Genetic and neural bases of the neuroticism general factor. - Biological psychology (2023) · Kim Y, Saunders GRB, Giannelis A, Willoughby EA, DeYoung CG, Lee JJ · PubMed 37783279

  We applied structural equation modeling to conduct a genome-wide association study (GWAS) of the general factor measured by a neuroticism questionnaire administered to ∼380,000 participants in the UK Biobank. We categorized significant genetic variants as acting either through the neuroticism general factor, through other factors measured by the questionnaire, or through paths independent of any factor. Regardless of this categorization, however, significant variants tended to show concordant associations with all items. Bioinformatic analysis showed that the variants associated with the neuroticism general factor disproportionately lie near or within genes expressed in the brain. Enriched gene sets pointed to an underlying biological basis associated with brain development, synaptic fun

• Multi-Trait Genetic Analysis Identifies Autoimmune Loci Associated with Cutaneous Melanoma. - The Journal of investigative dermatology (2022) · Liyanage UE, MacGregor S, Bishop DT, Shi J, An J, Ong JS, Han X, Scolyer RA, Martin NG, Medland SE, Byrne EM, Green AC, Saw RPM, Thompson JF, Stretch J, Spillane A, Jiang Y, Tian C, Gordon SG, Duffy DL, Olsen CM, Whiteman DC, Long GV, Iles MM, Landi MT, Law MH · PubMed 34813871

  Genome-wide association studies (GWAS) have identified a number of risk loci for cutaneous melanoma. Cutaneous melanoma shares overlapping genetic risk (genetic correlation) with a number of other traits, including its risk factors such as sunburn propensity. This genetic correlation can be exploited to identify additional cutaneous melanoma risk loci by multitrait analysis of GWAS (MTAG). We used bivariate linkage disequilibrium-score regression score regression to identify traits that are genetically correlated with clinically confirmed cutaneous melanoma and then used publicly available GWAS for these traits in a multitrait analysis of GWAS. Multitrait analysis of GWAS allows GWAS to be combined while accounting for sample overlap and incomplete genetic correlation. We identified a tota

• Leveraging Polygenic Functional Enrichment to Improve GWAS Power. - American journal of human genetics (2019) · Kichaev G, Bhatia G, Loh PR, Gazal S, Burch K, Freund MK, Schoech A, Pasaniuc B, Price AL · PubMed 30595370

  Functional genomics data has the potential to increase GWAS power by identifying SNPs that have a higher prior probability of association. Here, we introduce a method that leverages polygenic functional enrichment to incorporate coding, conserved, regulatory, and LD-related genomic annotations into association analyses. We show via simulations with real genotypes that the method, functionally informed novel discovery of risk loci (FINDOR), correctly controls the false-positive rate at null loci and attains a 9%-38% increase in the number of independent associations detected at causal loci, depending on trait polygenicity and sample size. We applied FINDOR to 27 independent complex traits and diseases from the interim UK Biobank release (average N = 130K). Averaged across traits, we attaine

• Genome-Wide Association Shows that Pigmentation Genes Play a Role in Skin Aging. - The Journal of investigative dermatology (2017) · Law MH, Medland SE, Zhu G, Yazar S, Viñuela A, Wallace L, Shekar SN, Duffy DL, Bataille V, Glass D, Spector TD, Wood D, Gordon SD, Barbour JM, Henders AK, Hewitt AW, Montgomery GW, Sturm RA, Mackey DA, Green AC, Martin NG, MacGregor S · PubMed 28502801

  Loss of fine skin patterning is a sign of both aging and photoaging. Studies investigating the genetic contribution to skin patterning offer an opportunity to better understand a trait that influences both physical appearance and risk of keratinocyte skin cancer. We undertook a meta-analysis of genome-wide association studies of a measure of skin pattern (microtopography score) damage in 1,671 twin pairs and 1,745 singletons (N = 5,087) drawn from three independent cohorts. We identified that rs185146 near SLC45A2 is associated with a skin aging trait at genome-wide significance (P = 4.1 × 10 ); to our knowledge this is previously unreported. We also confirm previously identified loci, rs12203592 near IRF4 (P = 8.8 × 10 ) and rs4268748 near MC1R (P = 1.2 × 10 ). At all three loci

• A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots. - The Journal of investigative dermatology (2015) · Jacobs LC, Hamer MA, Gunn DA, Deelen J, Lall JS, van Heemst D, Uh HW, Hofman A, Uitterlinden AG, Griffiths CEM, Beekman M, Slagboom PE, Kayser M, Liu F, Nijsten T · PubMed 25705849

  Facial pigmented spots are a common skin aging feature, but genetic predisposition has yet to be thoroughly investigated. We conducted a genome-wide association study for pigmented spots in 2,844 Dutch Europeans from the Rotterdam Study (mean age: 66.9±8.0 years; 47% male). Using semi-automated image analysis of high-resolution digital facial photographs, facial pigmented spots were quantified as the percentage of affected skin area (mean women: 2.0% ±0.9, men: 0.9% ±0.6). We identified genome-wide significant association with pigmented spots at three genetic loci: IRF4 (rs12203592, P=1.8 × 10(-27)), MC1R (compound heterozygosity score, P=2.3 × 10(-24)), and RALY/ASIP (rs6059655, P=1.9 × 10(-9)). In addition, after adjustment for the other three top-associated loci the BNC2 locus dem

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