RGD Reference Report - The relationship of estrogen receptor-alpha and -beta genes with osteoarthritis of the hand. - Rat Genome Database

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The relationship of estrogen receptor-alpha and -beta genes with osteoarthritis of the hand.

Authors: Wise, BL  Demissie, S  Cupples, LA  Felson, DT  Yang, M  Shearman, AM  Aliabadi, P  Hunter, DJ 
Citation: Wise BL, etal., J Rheumatol. 2009 Dec;36(12):2772-9. doi: 10.3899/jrheum.081208. Epub 2009 Nov 2.
RGD ID: 10045830
Pubmed: PMID:19884274   (View Abstract at PubMed)
PMCID: PMC3641579   (View Article at PubMed Central)
DOI: DOI:10.3899/jrheum.081208   (Journal Full-text)

OBJECTIVE: We examined reported associations between radiographic hand osteoarthritis (OA) and single-nucleotide polymorphisms (SNP) in 2 candidate genes associated with OA in other joints: estrogen receptor alpha (ESR1) and beta (ESR2). METHODS: In 539 Framingham Offspring Study participants (49% men; mean age 61 +/- 9 yrs) joint-specific radiographic hand OA was defined as Kellgren/Lawrence (K/L) scores >or= 2 in the first carpometacarpal joint (CMC), distal interphalangeal joints (DIP), first-digit interphalangeal joint (IP), or proximal interphalangeal joints (PIP). Four SNP were genotyped for ESR1 (PvuII-rs2234693, XbaI-rs9340799, rs2077647, and rs1801132) and 4 for ESR2 (rs1256031, rs1256034, rs1256059, rs944460). Logistic regression analyses were performed to evaluate the relationships between genotypes and hand OA, adjusting for age, sex, height, and weight. RESULTS: Radiographic hand OA was identified in at least one investigated joint of DIP (39%), PIP (33%), and first CMC (40%). There was no evidence of association between OA and genotype at any polymorphism. We found no significant association between our OA phenotypes or generalized or severe generalized OA as defined by Ushiyama and heterozygosity for rs2234693 and rs9340799, although in metaanalysis with the former study this heterozygosity remained significantly associated with generalized or severe generalized OA. CONCLUSION: We found no significant association between hand OA and the investigated polymorphisms of ESR1 or ESR2 despite published reports of association and a priori hypotheses implicating their potential roles. However, we could not absolutely exclude associations with rs2234693, rs9340799, or rs944460.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Hand Osteoarthritis no_associationIAGP 10045830DNA:SNPs:exons: (rs2077647 and rs1801132) (human)RGD 
Hand Osteoarthritis no_associationIAGP 10045830DNA:SNPs:introns: (rs1256034 more ...RGD 
Hand Osteoarthritis no_associationISOESR1 (Homo sapiens)10045830; 10045830DNA:SNPs:exons: (rs2077647 and rs1801132) (human)RGD 
Hand Osteoarthritis no_associationISOESR2 (Homo sapiens)10045830; 10045830DNA:SNPs:introns: (rs1256034 more ...RGD 
osteoarthritis  IAGP 10045830DNA:SNPs:introns: (rs2234693 and rs9340799) (human)RGD 
osteoarthritis  IAGP 10045830DNA:SNP:intron: (rs1256031) (human)RGD 
osteoarthritis  ISOESR1 (Homo sapiens)10045830; 10045830DNA:SNPs:introns: (rs2234693 and rs9340799) (human)RGD 
osteoarthritis  ISOESR2 (Homo sapiens)10045830; 10045830DNA:SNP:intron: (rs1256031) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Osteoarthritis  IAGP 10045830DNA:SNPs:introns: (rs2234693 and rs9340799)RGD 
Osteoarthritis  IAGP 10045830DNA:SNP:intron: (rs1256031)RGD 
Osteoarthritis of the small joints of the hand no_associationIAGP 10045830DNA:SNPs:exons: (rs2077647 and rs1801132)RGD 
Osteoarthritis of the small joints of the hand no_associationIAGP 10045830DNA:SNPs:introns: (rs1256034 more ...RGD 
Objects Annotated

Genes (Rattus norvegicus)
Esr1  (estrogen receptor 1)
Esr2  (estrogen receptor 2)

Genes (Mus musculus)
Esr1  (estrogen receptor 1 (alpha))
Esr2  (estrogen receptor 2 (beta))

Genes (Homo sapiens)
ESR1  (estrogen receptor 1)
ESR2  (estrogen receptor 2)


Additional Information