Systemic lupus erythematosus and rheumatoid arthritis

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
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RESULTS AND DISCUSSION 
 
14. Paper I: Oestrogen receptor 
α
 gene polymorphisms in systemic lupus
erythematosus. 
Associations between the variables shown in Figure 10 and the two 
polymorphisms 
PvuII
T/C and 
XbaI
A/G within the 
ESR1
were investigated. 
Genotyping of the polymorphisms, in patients with SLE and in controls, 
revealed no significant association with SLE 
per se
(Figure 10). The hypothesis 
was that clinical manifestations that differed in frequency between women and 
men could be oestrogen dependent (Table 7). The disease variables that differed 
between the sexes were: malar rash, photosensitivity, arthritis, renal disorder, 
diabetes, vascular disease, proteinuria and central nervous system (CNS), which 
were analysed in relation to the polymorphisms. Multiple binary logistic 
regression models, adjusted for sex and age of disease onset, were used to 
elucidate the relationship between the sex specific disease manifestations and 
the SNPs within the oestrogen receptor 
α
gene. 
Figure 10.
Genotype frequencies of patients and controls 
The minor alleles of the polymorphisms, 
PvuII
C and 
XbaI
G, were found to be 
significantly associated with malar rash and photosensitivity whereas 
homozygosity for the major alleles, 
PvuII
T and 
XbaI
A, were associated with 
serositis, cognitive impairment and angina or coronary artery bypass (Tables 8 
and 9). 
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Table 7.
Baseline characteristics of 220 female and 40 male patients diagnosed with SLE. Of the 
SLICC and SLEDAI groups, only variables significantly different between the sexes or 
previously associated with the SNPs are shown.