Association of E-cadherin gene 3'-UTR C/T polymorphism with calcium oxalate stone disease.
BACKGROUND
Urinary stone disease is one of the most commonly seen urological diseases in Taiwan. Single nucleotide polymorphisms (SNPs) are commonly used for the investigation of genetic markers for stone disease. E-cadherin (CDH-1) is one of the cellular junction proteins related to the integrity of epithelial cells. Our aim was to investigate a polymorphism of the CDH-1 gene 3'-UTR as a possible genetic marker in the search for the genetic causes.


METHODS
148 patients with calcium oxalate stone were compared with 103 healthy controls for the frequency of CDH-1 3'-UTR polymorphisms. The polymorphism was detected by polymerase chain reaction-based restriction analysis (PML I endonuclease).


CONCLUSIONS
The results revealed significant differences between normal individuals and calcium stone disease patients (p = 0.0013). The distribution of genotype TT homozygote was higher in stone patients (51.5%) than in the control group (43.4%). The odds ratio for T allele compared to C allele was 2.0. We have concluded that polymorphisms of CDH-1 3'-UTR is a valid genetic marker for calcium stone disease.
Department of Medical Genetics, China Medical College Hospital, China Medical College, Taichung, Taiwan.
Fuu-Jen
FJ
Tsai
Hsi-Chin
HC
Wu
Huey-Yi
HY
Chen
Hsueh-Fu
HF
Lu
Cheng-Der
CD
Hsu
Wen-Chi
WC
Chen
D000328:Adult; D000368:Aged; D015820:Cadherins / Q000235:genetics*; D002129:Calcium Oxalate / Q000032:analysis*; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D014545:Urinary Calculi / Q000737:chemistry / Q000175:diagnosis / Q000235:genetics*
D015820:Cadherins; D005819:Genetic Markers; D002129:Calcium Oxalate