rs1042114

This is a protein-altering variant in the OPRD1 gene.

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

body height

Allele G
OR 0.02
p 9.0e-57
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

Research that mentions this SNP (3)

The relationship between polymorphisms of BDNFOS and BDNF genes and heroin addiction in the Han Chinese population
ReviewTianbo Jin et al.(2016)· The Journal of Gene Medicine

This review examines neurogenetic and neuropharmacological correlates of opioid use disorder (OUD) with emphasis on ancestry-specific genetic risk profiles. The paper identifies multiple genes involved in the reward pathway (DRD2, DRD3, DRD4, OPRM1, OPRK1, OPRD1, BDNF, NRXN3, COMT, SLC6A4, KCNC1, KCNG2) and their variants associated with OUD susceptibility and treatment response across different ethnic populations, highlighting critical research disparities where African Americans and Hispanics have been underrepresented in genetic association studies.

Traits studied:Alcohol DependenceCocaine AddictionHeroin AddictionHeroin DependenceMethamphetamine DependenceMitochondrial DysfunctionNeonatal Abstinence SyndromeOpioid AddictionOpioid DependenceOpioid Use DisorderOxidative StressPain SensitivitySubstance Use Disorder
A commonly carried genetic variant in the delta opioid receptor gene, OPRD1, is associated with smaller regional brain volumes: Replication in elderly and young populations
AssociationN=1,316Florence F. Roussotte et al.(2014)· Human Brain Mapping

This association study identified rs678849 in the delta opioid receptor gene OPRD1 as being associated with smaller regional brain volumes in the ADNI cohort of 738 elderly participants, with replication in the QTIM cohort of 578 young adult twins. The C allele at rs678849 predicted reduced volumes in frontal, temporal, and occipital brain regions (P = 7.74 × 10⁻⁵ in ADNI). In healthy elderly, the C allele was also associated with elevated cerebrospinal fluid neurodegenerative biomarkers (P = 0.027 for t-tau/Aβ42 ratio).

Traits studied:Alzheimer's diseaseBrain volume - regionalCerebrospinal fluid biomarkersCocaine addictionMild cognitive impairmentNeurodegenerationOpioid dependence
Genome‐wide association analysis of eating disorder‐related symptoms, behaviors, and personality traits
AssociationN=2,784Vesna Boraska et al.(2012)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Genome-wide association study of six eating disorder-related phenotypes (Drive for Thinness, Body Dissatisfaction, Bulimia, Weight Fluctuation, Breakfast Skipping, and Childhood Obsessive-Compulsive traits) across 2,698-2,967 individuals from TwinsUK discovery and two independent European replication cohorts. Meta-analysis identified eight genetic variants with suggestive evidence of association (P < 10^-5), including rs7624327 near CCNL1 (P=3.34E-06, OR=1.13 for Bulimia), rs1898111 in SEMA6D (P=7.66E-06, OR=0.872 for OCPD), and rs6894268 in RUFY1 (P=2.38E-06 for Body Dissatisfaction), but no signals reached genome-wide significance threshold (P < 5×10^-8).

Traits studied:Body DissatisfactionBreakfast SkippingBulimiaChildhood Obsessive-Compulsive Personality Disorder traitDrive for ThinnessWeight Fluctuation

About OPRD1

Enables G protein-coupled enkephalin receptor activity. Involved in several processes, including G protein-coupled opioid receptor signaling pathway; cellular response to hypoxia; and positive regulation of peptidyl-serine phosphorylation. Located in plasma membrane. Implicated in alcohol dependence; alcohol use disorder; drug dependence (multiple); opioid abuse; and withdrawal disorder. Biomarker of opioid abuse. [provided by Alliance of Genome Resources, Apr 2025]

View all OPRD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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