Gene: RORA

Alternate names for this Gene: IDDECA|NR1F1|ROR1|ROR2|ROR3|RZR-ALPHA|RZRA

Gene Summary: The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene.

Gene is located in Chromosome: 15

Location in Chromosome : 15q22.2

Description of this Gene: RAR related orphan receptor A

Type of Gene: protein-coding

rs7183955 in RORA gene and Adult onset asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

rs10519067 in RORA gene and Allergic Reaction PMID 29083406 2017 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

rs10519067 in RORA gene and Allergic rhinitis (disorder) PMID 30013184 2018 Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.

rs10519067 in RORA gene and Asthma PMID 30787307 2019 Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations.

PMID 30552067 2019 Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

PMID 29273806 2018 Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.

PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

PMID 27130862 2016 Identification of a new locus at 16q12 associated with time to asthma onset.

PMID 22561531 2012 Genome-wide association study to identify genetic determinants of severe asthma.

PMID 20860503 2010 A large-scale, consortium-based genomewide association study of asthma.

PMID 21907864 2011 Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.

PMID 31619474 2019 Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.

rs17237465 in RORA gene and Blood urea nitrogen measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs17270446 in RORA gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs2899663 in RORA gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4775373 in RORA gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11071559 in RORA gene and Childhood asthma PMID 31036433 2019 Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.

PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

rs10519068 in RORA gene and Eczema PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11071559 in RORA gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12594733 in RORA gene and High density lipoprotein measurement PMID 24886709 2014 Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.

rs4775367 in RORA gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs12912233 in RORA gene and Major Depressive Disorder PMID 20800221 2010 Genome-wide association scan of trait depression.

rs4775319 in RORA gene and Malignant Head and Neck Neoplasm PMID 29884837 2018 We identified four common SNPs representing four genomic regions: 7q22.3 (rs10950641; SNX8; P = 3.39 × 10<sup>-14</sup>), 19p13.2 (rs4804217; PCP2; P = 2.95 × 10<sup>-9</sup>), 3q27.3 (rs6796803; KNG1; P = 6.42 × 10<sup>-9</sup>) and 15q22.2 (rs4775319; RORA; P = 1.02 × 10<sup>-8</sup>), suggesting SNX8, PCP2, KNG1 and RORA might be novel target genes for NP in patients with head and neck cancer.

rs4775319 in RORA gene and Neuropathic pain PMID 29884837 2018 We identified four common SNPs representing four genomic regions: 7q22.3 (rs10950641; SNX8; P = 3.39 × 10<sup>-14</sup>), 19p13.2 (rs4804217; PCP2; P = 2.95 × 10<sup>-9</sup>), 3q27.3 (rs6796803; KNG1; P = 6.42 × 10<sup>-9</sup>) and 15q22.2 (rs4775319; RORA; P = 1.02 × 10<sup>-8</sup>), suggesting SNX8, PCP2, KNG1 and RORA might be novel target genes for NP in patients with head and neck cancer.

rs4775301 in RORA gene and Post-Traumatic Stress Disorder PMID 22869035 2013 A genome-wide association study of post-traumatic stress disorder identifies the retinoid-related orphan receptor alpha (RORA) gene as a significant risk locus.

rs11071559 in RORA gene and Respiratory Tract Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4775301 in RORA gene and Schizophrenia PMID 22883433 2012 Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia.

rs12594733 in RORA gene and Serum HDL cholesterol measurement PMID 24886709 2014 Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.

rs12916023 in RORA gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.