OR52A5

Last update 08 May 2025

Basic Info

Synonyms

Odorant receptor HOR3'beta5, Olfactory receptor 52A5, olfactory receptor family 52 subfamily A member 5

+ [2]

Introduction

Odorant receptor.

100 Clinical Results associated with OR52A5

100 Translational Medicine associated with OR52A5

0 Patents (Medical) associated with OR52A5

Literatures (Medical) associated with OR52A5

09 Oct 2023·Genes

Impact of Genetic Variations on Thromboembolic Risk in Saudis with Sickle Cell Disease.

Article

Author: Al Qahtani, Farjah H ; Al Zayed, Abdullah ; Alwadaani, Deemah ; Abohelaika, Salah ; Alzahrani, Mohsen ; Alshabeeb, Mohammad A ; Alsomaie, Barrak ; Al Ajmi, Hala ; Rashid, Mamoon ; Daly, Ann K ; Al Saeed, Hussain H

BACKGROUNDSickle cell disease (SCD) is a Mendelian disease characterized by multigenic phenotypes. Previous reports indicated a higher rate of thromboembolic events (TEEs) in SCD patients. A number of candidate polymorphisms in certain genes (e.g., FVL, PRT, and MTHFR) were previously reported as risk factors for TEEs in different clinical conditions. This study aimed to genotype these genes and other loci predicted to underlie TEEs in SCD patients.METHODOLOGYA multi-center genome-wide association study (GWAS) involving Saudi SCD adult patients with a history of TEEs (n = 65) and control patients without TEE history (n = 285) was performed. Genotyping used the 10× Affymetrix Axiom array, which includes 683,030 markers. Fisher's exact test was used to generate p-values of TEE associations with each single-nucleotide polymorphism (SNP). The haplotype analysis software tool version 1.05, designed by the University of Göttingen, Germany, was used to identify the common inherited haplotypes.RESULTSNo association was identified between the targeted single-nucleotide polymorphism rs1801133 in MTHFR and TEEs in SCD (p = 0.79). The allele frequency of rs6025 in FVL and rs1799963 in PRT in our cohort was extremely low (<0.01); thus, both variants were excluded from the analysis as no meaningful comparison was possible. In contrast, the GWAS analysis showed novel genome-wide associations (p < 5 × 10^-8) with seven signals; five of them were located on Chr 11 (rs35390334, rs331532, rs317777, rs147062602, and rs372091), one SNP on Chr 20 (rs139341092), and another on Chr 9 (rs76076035). The other 34 SNPs located on known genes were also detected at a signal threshold of p < 5 × 10^-6. Seven of the identified variants are located in olfactory receptor family 51 genes (OR51B5, OR51V1, OR51A1P, and OR51E2), and five variants were related to family 52 genes (OR52A5, OR52K1, OR52K2, and OR52T1P). The previously reported association between rs5006884-A in OR51B5 and fetal hemoglobin (HbF) levels was confirmed in our study, which showed significantly lower levels of HbF (p = 0.002) and less allele frequency (p = 0.003) in the TEE cases than in the controls. The assessment of the haplotype inheritance pattern involved the top ten significant markers with no LD (rs353988334, rs317777, rs14788626882, rs49188823, rs139349992, rs76076035, rs73395847, rs1368823, rs8888834548, and rs1455957). A haplotype analysis revealed significant associations between two haplotypes (a risk, TT-AA-del-AA-ins-CT-TT-CC-CC-AA, and a reverse protective, CC-GG-ins-GG-del-TT-CC-TT-GG-GG) and TEEs in SCD (p = 0.024, OR = 6.16, CI = 1.34-28.24, and p = 0.019, OR = 0.33, CI = 0.13-0.85, respectively).CONCLUSIONSSeven markers showed novel genome-wide associations; two of them were exonic variants (rs317777 in OLFM5P and rs147062602 in OR51B5), and less significant associations (p < 5 × 10^-6) were identified for 34 other variants in known genes with TEEs in SCD. Moreover, two 10-SNP common haplotypes were determined with contradictory effects. Further replication of these findings is needed.

01 Jul 2015·Clinical BiochemistryQ3 · MEDICINE

A novel Aγδβ0-thalassemia caused by DNA deletion–inversion–insertion of the β-globin gene cluster and five olfactory receptor genes: Genetic interactions, hematological phenotypes and molecular characterization

Q3 · MEDICINE

Article

Author: Fucharoen, Supan ; Fucharoen, Goonnapa ; Singha, Kritsada ; Hama, Abdulloh

OBJECTIVETo report the phenotypes and genetic basis of a novel (A)γδβ(0)-thalassemia found in Thai individuals with several forms of thalassemia.DESIGNS AND METHODSAn initial study was done in an adult Thai woman who had hypochromic microcytic red cells with unusually 100% Hb F. Extended study was carried out on her parents and another 17 unrelated individuals with elevated Hb F. Hb analysis was performed by capillary electrophoresis and DNA analysis was done using PCR. A novel diagnostic method based on multiplex PCR assays was developed.RESULTSDNA analysis of the proband revealed the homozygosity for a novel deletion of 118.3 kb, removing the entire (A)γ, ψβ, δ-, β-globin and five olfactory receptor (OR) genes with an insertion of a 179 bp inverted DNA sequence located behind the OR52A5 gene located downstream and an insertion of 7 orphan nucleotides. Her parents were both carriers of this mutation. Further screening in suspected cases in our series unexpectedly led to identification of an additional 17 cases with this mutation in different genotypes including plain heterozygote, homozygote, compound heterozygote with Hb E, and double heterozygote with several forms of α-thalassemia. Hematological features associated with these genetic interactions are presented.CONCLUSIONSHaplotype analysis indicated a single origin of this novel deletion-inversion-insertion (A)γδβ(0)-thalassemia in the Thai population. Differentiation of this mutation and other high Hb F determinants documented previously could be done by using a developed multiplex PCR assay.

01 Feb 2011·HemoglobinQ4 · MEDICINE

Characterization of the 5′ and 3′ Breakpoints of the Spanish (δβ)⁰-Thalassemia Deletion in Mexican Patients

Q4 · MEDICINE

Article

Author: Perea, Francisco J. ; Morales-Gonzalez, Karina R. ; Ibarra, C. Bertha ; Sanchez-Lopez, Josefina Y. ; de la Cruz, Eduardo I. ; Guzman, Luis F. ; Chavez-Velasco, M. Luz

We studied five unrelated Mexican carriers of the Spanish (δβ)(0)-thalassemia [(δβ)(0)-thal] mutation to characterize the size of the deletion, the 5' and 3' breakpoints and the 5' β-globin haplotype. Sequence analysis revealed the presence of an 89,548 bp deletion. The δ- and β-globin genes, two olfactory receptor genes (OR51V1 and OR52A1) and two pseudogenes (OR52Z1P and OR51A1P) were deleted. The 5' breakpoint was located at the same position as previously reported, and the 3' breakpoint was situated 7.0 kb downstream of OR52A1 and 11.7 kb upstream of OR52A5. The Spanish (δβ)(0)-thal allele was associated with the 5' haplotype 2 [- + + - +] in the studied patients. Because this mutation is relatively frequent in Spain, and the Mexican population contains a high level of Spanish genetic background, we propose that the mutation in both populations share a common ancestral origin.

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