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.
Design: Prospective study.
Setting: Departments of gynecology and genetics in medical center.
Patient(s): Women were divided into leiomyoma (n = 120) and nonleiomyoma groups (n = 112).
Intervention(s): 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.
Main outcome measure(s): Genotypes and allelic frequencies in both groups were compared.
Result(s): 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%.
Conclusion(s): 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.