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Association of the oestrogen receptor α gene polymorphisms with disease onset in systemic lupus erythematosus
  1. Y J Lee1,
  2. K S Shin2,
  3. S W Kang3,
  4. C K Lee4,
  5. B Yoo4,
  6. H S Cha5,
  7. E M Koh5,
  8. S J Yoon6,
  9. J Lee6
  1. 1Department of Medicine, College of Medicine, Gyeongsang National University, Korea
  2. 2Department of Paediatrics, College of Medicine, Cheju National University, Korea
  3. 3Department of Medicine, College of Medicine, Chungnam National University, Korea
  4. 4University of Ulsan College of Medicine, Ulsan, Korea
  5. 5Samsung Medical Centre, Sungkyunkwan University School of Medicine, Sungkyunkwan, Korea
  6. 6Department of Preventive Medicine, College of Medicine, Korea University, Korea
  1. Correspondence to:
    Dr K S Shin
    Department of Paediatrics, College of Medicine, Cheju National University, 1 Ara 1(il)-dong, Jeju, Jeju-do 690-756, Korea;


Objective: To evaluate the genetic influence of PvuII and XbaI polymorphisms of oestrogen receptor α (ORα) in patients with systemic lupus erythematosus (SLE) in Korea.

Methods: Genomic DNA from 268 female controls and 137 female SLE patients (41 childhood onset and 96 adult onset) were analysed using PvuII and XbaI restriction fragment length polymorphism. Comparison of the frequencies of alleles and genotypes was made in control and patient groups and in childhood onset and adult onset SLE subgroups.

Results: Although the Pp genotype occurred more often in SLE patients than in controls (pc = 0.017), ORα genotype distributions of adult onset SLE did not differ significantly from controls. The PP, Pp, and xx genotypes occurred less often in childhood onset SLE (pc = 0.0045, 0.0498, and 0.0255, respectively) than in controls. Additionally, the PP genotype was less common in childhood onset than in adult onset SLE (pc = 0.016). SLE patients with the PP genotypes were older at disease onset than those with the other genotypes (p = 0.001). Patients with the Xx genotype had an earlier onset of SLE than those with the xx genotype (p = 0.025). The frequency of the combined ppXx genotype was greater in childhood onset SLE than in controls (pc = 0.0009) or adult onset SLE (pc = 0.027). The same trend was supported by subgroup analyses according to age at menarche and logistic multivariate analyses.

Conclusions: ORα polymorphisms are significantly associated with the age at disease onset in Koreans with SLE.

  • systemic lupus erythematosus
  • oestrogen receptor α
  • polymorphism
  • PvuII
  • XbaI

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