X-ray repair cross-complementing group 4 (XRCC4) promoter -1394( *)T-related genotype, but not XRCC4 codon 247/intron 3 or xeroderma pigmentosum group D codon 312, 751/promoter -114, polymorphisms are correlated with higher susceptibility to myoma.
OBJECTIVE
To investigate whether the DNA repair genes, X-ray repair cross-complementing group 4 (XRCC4) and xeroderma pigmentosum group D (XPD), could be useful markers for predicting leiomyoma susceptibility.


METHODS
Prospective study.


METHODS
Departments of gynecology and genetics in medical center.


METHODS
Women were divided into leiomyoma (n = 120) and nonleiomyoma groups (n = 112).


METHODS
XRCC4 (codon 247, promoter -1394, intron 3) and XPD (codon 312, codon 751, promoter -114) polymorphisms were genotyped by polymerase chain reaction with restriction enzyme digestions.


METHODS
Genotypes and allelic frequencies in both groups were compared.


RESULTS
XRCC4 promoter -1394( *)T-related genotype/alleles were associated with higher susceptibility of leiomyoma. Proportions of XRCC4 promoter -1394( *)T homozygote/heterozygote/G homozygote and T/G alleles were [1] 91.7%/6.7%/1.7% and 95%/5% and [2] 79.4%/17.9%/2.7% and 88.4%/11.6%, respectively. Five other single nucleotide polymorphisms were not correlated with leiomyoma susceptibilities. Proportions of XRCC4 codon 247( *)CC/CA/AA and XRCC4 intron 3( *)II/ID/DD were [1] 95%/5%/0% and 72.5%/23.3%/4.2% and [2] 97.3%/2.7%/0 and 70.5%/24.1%/5.4%. Proportions of XPD codon 312( *)GG/GA/AA, XPD codon 751( *)TT/TG/GG, and XPD promoter -114( *)GG/GC/CC were [1] 65%/22.5%/12.5%, 92.5%/6.7%/0.8%, and 22.5%/46.7%/30.8%; and [2] 64.3%/22.3%/13.4%, 92%/7.1%/0.9%, and 23.2%/46.4%/30.4%.


CONCLUSIONS
XRCC4 promoter -1394( *)T-related genotype/alleles are associated with higher susceptibility of leiomyoma, whereas XRCC4 codon 247, XRCC4 intron 3, XPD codon 312, XPD codon 751, and XPD promoter -114 polymorphisms are not correlated with its development.
Hsieh
Yao-Yuan
YY
Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan.
Chang
Chi-Chen
CC
Bau
Da-Tian
DT
Yeh
Lian-Shen
LS
Tsai
Fuu-Jen
FJ
Tsai
Chang-Hai
CH
D003062:Codon; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007438:Introns; D007889:Leiomyoma / Q000235:genetics*; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D011446:Prospective Studies; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics*
D003062:Codon; D004268:DNA-Binding Proteins; C101467:XRCC4 protein, human; D051759:Xeroderma Pigmentosum Group D Protein