LACK OF ASSOCIATION
BETWEEN ASN363SER POLYMORPHISM OF GLUCOCORTICOID RECEPTOR GENE (GCR) AND
RESPONSE TO STEROID TREATMENT IN CHILDREN WITH NEPHROTIC SYNDROME (NS)
Ciechanowicz A1, Brodkiewicz A2,
Peregud-Pogorzelski J2, Urba¨½ska A1, Adler1,
Dzie¨½ski P3, Woźniak S2, Fydryk J2
1 Department of Pathobiochemistry and Molecular Biology,
2Ist Department of Paediatrics and
3 Department of Biochemistry and Chemistry, Pomeranian
Medical University, Poland
The Asn363Ser polymorphism of GCR gene has been associated with an
increased sensitivity to glucocorticoids. On the other hand, the resistance
to steroid treatment significantly worsens the prognosis in children with
NS. Therefore, it raises the question whether Asn363Ser polymorphism of GCR
gene may be associated with the type of response to steroid treatment of NS
children. The study group consisted of 29 Caucasian children (aged 12-104
months) with NS and 29 gender- and age-matched healthy Caucasian children
(HC) as controls. Genomic DNA isolated from peripheral blood leukocytes was
amplified by PCR method. The mismatch near to 3`-end of upstream primer was
introduced to create an additional restriction site for Mun I enzyme in Asn363 allele. The
Ser363 allele was identified by loss of Mun
I restriction site. No significant difference in genotype frequency has
been observed between both groups (82.8% Asn/Asn, 17.2% Asn/Ser and 0.0%
Ser/Ser in NS versus 96.6% Asn/Asn, 3.4% Asn/Ser and 0.0% Ser/Ser in HC,
respectively). In addition, no association between GCR genotypes and
gender, age of NS onset, type of response to steroid treatment as well as
the number of NS recurrences per year was observed in children with NS. The
results of our preliminary study suggest the lack of association between
the Asn363Ser polymorphism of GCR gene and the type of response to steroid
treatment in children with NS.