RGD Reference Report - Association of single nucleotide polymorphisms in estrogen receptor alpha gene with susceptibility to knee osteoarthritis: a case-control study in a Chinese Han population. - Rat Genome Database

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Association of single nucleotide polymorphisms in estrogen receptor alpha gene with susceptibility to knee osteoarthritis: a case-control study in a Chinese Han population.

Authors: Dai, X  Wang, C  Dai, J  Shi, D  Xu, Z  Chen, D  Teng, H  Jiang, Q 
Citation: Dai X, etal., Biomed Res Int. 2014;2014:151457. doi: 10.1155/2014/151457. Epub 2014 Mar 17.
RGD ID: 10045829
Pubmed: PMID:24772413   (View Abstract at PubMed)
PMCID: PMC3977114   (View Article at PubMed Central)
DOI: DOI:10.1155/2014/151457   (Journal Full-text)

Osteoarthritis (OA) is the most prevalent form of arthritis and its multifactorial nature has been increasingly recognized. Genetic factors play an important role in OA etiology and estrogen receptor alpha (ESR1) gene polymorphisms may be involved. This study tried to explore whether the ESR1 gene single nucleotide polymorphisms (SNPs) were associated with primary knee OA in the Chinese Han population. Two SNPs, rs2234693 and rs9340799, were genotyped in 469 cases and 522 controls. Rs2234693 was associated with knee OA in the dominant genetic model (TT + TC versus CC) (P = 0.025) and a higher T allele frequency existed (P = 0.047) among females. The combined genotype (TT + TC) (P = 0.025) and T allele (P = 0.016) were related with mild knee OA only. For rs9340799, A allele was associated with knee OA in all subjects (P = 0.031) and females (P = 0.046). Statistical differences were detected in the dominant genetic model (AA + AG versus GG) among females (P = 0.030). The combined genotype (AA + AG) (P = 0.036) and A allele (P = 0.039) were merely correlated with mild knee OA. ESR1 gene is considerably associated with knee OA etiology in the Chinese Han population.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ESR1HumanKnee Osteoarthritis  IAGP DNA:SNPs:intron: (rs2234693 and rs9340799) (human)RGD 
Esr1RatKnee Osteoarthritis  ISOESR1 (Homo sapiens)DNA:SNPs:intron: (rs2234693 and rs9340799) (human)RGD 
Esr1MouseKnee Osteoarthritis  ISOESR1 (Homo sapiens)DNA:SNPs:intron: (rs2234693 and rs9340799) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ESR1HumanKnee osteoarthritis  IAGP DNA:SNPs:intron: (rs2234693 and rs9340799) 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