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The association of androgen‐ and oestrogen‐receptor gene polymorphisms with urolithiasis in men
Author(s) -
Chen W.C.,
Wu H.C.,
Lin W.C.,
Wu M.C.,
Hsu C.D.,
Tsai F.J.
Publication year - 2001
Publication title -
bju international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.773
H-Index - 148
eISSN - 1464-410X
pISSN - 1464-4096
DOI - 10.1046/j.1464-410x.2001.02319.x
Subject(s) - exon , gene , androgen receptor , biology , allele , direct repeat , cytosine , microsatellite , genetics , medicine , microbiology and biotechnology , endocrinology , prostate cancer , cancer , base sequence
Objective To evaluate the association of urolithiasis with polymorphic microsatellite (encoding cytosine, adenine, and guanine, CAG) repeats in the exon 1 region of the androgen receptor (AR) gene and thymine/adenine (TA) repeats in the oestrogen receptor (ER). Patients and methods Patients with urolithiasis (149) and a group of normal controls (102) were examined and compared. The CAG repeats of the AR gene and TA repeats of the ER gene were detected by polymerase chain reaction. The CAG repeats ranged from 171 bp (10 CAG repeats with 141 bp of amplified flanking sequences) to 270 bp (43 CAG repeats). The TA repeats ranged from 160 bp to 194 bp. Associations between calcium oxalate stone disease and the CAG repeats in AR gene and TA repeats in ER gene were then evaluated. The results were classified according to sex and peaks in allelic frequency distribution. Results There was a significant difference between the male stone patients and the normal controls in the distribution of CAG repeats in the AR gene. Both groups showed a high percentage of 21‐repeats in the allelic distribution, at 17 (16%) and 20 (37%) in stone patients and normal controls, respectively. The results indicate that 21‐CAG repeats might be related to a lower risk of stone formation in men ( P < 0.05). In the ER gene, the peak allelic distribution of TA repeats was 14, showing a significant difference between male stone patients and the normal control subjects ( P < 0.01). There were no statistical differences between female stone patients and the control subjects in either the AR or the ER gene. Conclusion Urolithiasis among men appears to be associated with AR gene CAG repeat and ER gene TA repeat polymorphisms, whereas there was no significant association among female stone patients. These sex hormone receptors seem to be related to the higher incidence of stone formation among men.