RGD Reference Report - Association of estrogen receptor-alpha single-nucleotide polymorphism (codon 594 G-->A) and Thai patients affected by knee osteoarthritis. - Rat Genome Database

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Association of estrogen receptor-alpha single-nucleotide polymorphism (codon 594 G-->A) and Thai patients affected by knee osteoarthritis.

Authors: Tawonsawatruk, T  Trachoo, O  Channoom, T  Sura, T  Eu-ahsunthornwattana, J  Woratanarat, P  Wajanavisit, W 
Citation: Tawonsawatruk T, etal., J Med Assoc Thai. 2009 Dec;92 Suppl 6:S45-50.
RGD ID: 10045835
Pubmed: PMID:20128071   (View Abstract at PubMed)

BACKGROUND: Estrogen receptor-alpha single-nucleotide polymorphism (ER-alpha SNP) has previously shown its susceptibility to knee osteoarthritis (OA) but this association cannot be applied to ethnic groups with different genetic backgrounds. OBJECTIVE: To characterize the genetic association between ER-alpha SNP and knee OA in the Thai. MATERIAL AND METHOD: A case-control study was conducted at Ramathibodi Hospital from August 2007 to May 2008. Altogether, 104 cases affected by knee OA and 104 controls were included in this study. SNP rs2228480 (codon 594 G!A) on the ER-alpha gene was genotyped by a PCR-RFLP-based technique. Genotype frequencies were analyzed by logistic regression. RESULTS: ER-alpha SNP was normally distributed through the Hardy-Weinberg Equilibrium (HWE). The risk of knee OA was genetically associated to AG an AA genotypes compared with homozygous wild-type GG (OR: 1.02, 95% CI: 0.60-1.80 for AG; OR: 1.27, 95% CI: 0.30-4.90 for AA). CONCLUSION: Our study showed that these genetic alterations might be associated with knee osteoarthritis in the Thai population. Further investigation on other informative SNPs on the ER-alpha gene should be performed to create a reliable haplotype that might provide a stronger link between genetic profiles and clinical picture.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Knee Osteoarthritis  IAGP 10045835DNA:SNP:cds:c.1782G>A (rs2228480) (human)RGD 
Knee Osteoarthritis  ISOESR1 (Homo sapiens)10045835; 10045835DNA:SNP:cds:c.1782G>A (rs2228480) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Knee osteoarthritis  IAGP 10045835DNA:SNP:cds:c.1782G>A (rs2228480) RGD 
Objects Annotated

Genes (Rattus norvegicus)
Esr1  (estrogen receptor 1)

Genes (Mus musculus)
Esr1  (estrogen receptor 1 (alpha))

Genes (Homo sapiens)
ESR1  (estrogen receptor 1)


Additional Information