No association of the TGF-beta1 gene polymorphisms with the renal progression in autosomal dominant polycystic kidney disease (ADPKD) patients.
BACKGROUND
Two genetic loci, PKD I and PKD2, have been identified as being responsible for ADPKD, and PKD1 is known to be associated with a poor prognosis. However, the presence of an intrafamilial study clinical diversity suggests that there are disease-modifying loci. Because the mechanism ofthe renal failure in ADPKD includes a cystic growth and tubulointerstitial atrophy and fibrosis, we studied the associations between 2 polymorphisms in the TGF-beta1 gene, which are known to be associated with chronic tubulointerstitial inflammation, and ADPKD progression in Korean patients.


METHODS
One hundred and twenty-five individuals who had ADPKD and 47 normal control subjects were genotyped by PCR-RFLP, the T869C (Leu10Pro) variant of TGF-beta gene leader sequence was discriminated with MspA1I and the G915C (Arg25Pro) variants with Bg1I. Statistical significances were determined using the Chi-square test.


RESULTS
The distribution of the alleles for the TGF beta1 Leu10Pro polymorphism in ADPKD was: T 54%, C 46%, which was similar to the Korean (56: 44, p = 0.887) and Western controls (65: 35). In addition, no differences were found between the ESRD and the non-ESRD groups (p = 0.888) or the early hypertension and the normotension groups (p = 0.249). The distribution of alleles for the TGF beta1 Arg25Pro polymorphism showed only the GG type which was different from the Western population controls (G:C = 90:10, p = 0.000).


CONCLUSIONS
Our results suggest that the polymorphism at Arg25Pro of TGF-beta1 in the Korean population has an allele distribution different from that ofthe Western population and that the polymorphism at Leu10Pro of TGF-beta1 has no association with the renal progression in Korean ADPKD patients.
Lee
J G
JG
Department of Internal Medicine, Eulji Medical College, College of Medicine, Seoul National University, Seoul, Korea.
Ahn
C
C
Yoon
S C
SC
Park
J H
JH
Eo
H S
HS
No
J J
JJ
Kim
K H
KH
Lee
E J
EJ
Hwang
Y H
YH
Hwang
D Y
DY
Kim
Y S
YS
Han
J S
JS
Kim
S
S
Lee
J S
JS
Kim
S H
SH
D000328:Adult; D000368:Aged; D018450:Disease Progression; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology*; D007723:Korea; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D011110:Polymorphism, Genetic / Q000235:genetics*; D011506:Proteins / Q000235:genetics; D050396:TRPP Cation Channels; D016212:Transforming Growth Factor beta / Q000235:genetics*; D053773:Transforming Growth Factor beta1
D008565:Membrane Proteins; D011506:Proteins; D050396:TRPP Cation Channels; D016212:Transforming Growth Factor beta; D053773:Transforming Growth Factor beta1; C508960:TGFB1 protein, human