Systemic lupus erythematosus and rheumatoid arthritis

 
 
 
 
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AIMS OF THE STUDY
In this study I investigated whether certain polymorphisms in candidate genes, 
involved in immune functions, were associated with susceptibility for and/or 
severity of autoimmune rheumatic diseases, 
e.g.
, SLE and RA. 
The aims were: 
-
to analyse polymorphisms in the oestrogen receptor 
α
(
ESR1
) gene, 
implicated in the hormonal regulation of immune cells, for 
susceptibility and severity of SLE; 
-
to analyse polymorphisms in the programmed cell-death 1 (
PDCD1
) 
gene and the protein tyrosine non-receptor type 22 (
PTPN22
) gene, 
involved in the negative regulation of T-cells, separately and in 
combination, for SLE susceptibility and severity; 
-
to evaluate the susceptibility of RA of the 
PTPN22
1858C/T 
polymorphism, in relation to auto-antibodies, before onset of symptoms 
and after disease onset; and also 
-
to evaluate other polymorphisms within the 
PTPN22
gene (-1123G/C 
and rs3811021) for RA susceptibility; and 
-
to analyse the functional implication of the 
PTPN22
1858C/T 
polymorphism in RA and SLE patients