P53 codon 11, 72, and 248 gene polymorphisms in endometriosis.
OBJECTIVE
Mutated p53 gene is related to the instability of cell growth and cell cycle progression. We aimed to evaluate the association between endometriosis and p53 codon 11, 72 and 248 gene polymorphisms.


METHODS
Women were divided into two groups: (1) moderate/severe endometriosis (n=148), and (2) non-endometriosis groups (n=150). P53 gene polymorphisms include codon11 Glu/Gln or Lys (GAG->CAG or AAG), codon 72 Arg/Pro (CGC->CCC), and codon 248 Arg/Thr (CGG->TCG). These gene polymorphisms were amplified by polymerase chain reaction and detected by electrophoresis after restriction enzyme (Taq I, BstU I, Hap II) digestions. Associations between the endometriosis and p53 polymorphisms were evaluated.


RESULTS
The distributions of p53 codon 72 polymorphisms in both groups were significantly different. The proportions of Arg homozygotes/heterozygotes/Pro homozygotes in both groups were 9.5/66.2/24.3% and 30.7/50/19.3%. The proportions of Arg/Pro alleles were 42.6/57.4% and 56/44%. The distributions of p53 codon 11 and 248 polymorphisms in both groups were non-significantly different. All individuals appeared the wild genotypes (Glu11 and Arg248 homozygotes).


CONCLUSIONS
Association between endometriosis and p53 codon 72 polymorphism exists. P53 codon 72*Pro-related genotype and allele are related with higher susceptibility of endometriosis. P53 codon 11 and 248 polymorphisms are not related with endometriosis susceptibility.
Hsieh
Yao-Yuan
YY
Department of Biological Science and Technology, National Chiao Tung University, Hsinchu, Taiwan.
Lin
Chich-Sheng
CS
D001120:Arginine / Q000235:genetics; D003062:Codon / Q000235:genetics*; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D017931:DNA Primers; D004715:Endometriosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008239:Lysine / Q000235:genetics; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D017697:Premenopause; D011392:Proline / Q000235:genetics; D012016:Reference Values; D012720:Severity of Illness Index; D013624:Taiwan; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
D003062:Codon; D017931:DNA Primers; D016159:Tumor Suppressor Protein p53; D004247:DNA; D001120:Arginine; D011392:Proline; D008239:Lysine