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
Do'stlaringiz bilan baham: