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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.

Hsieh YY, Chang CC, Bau DT, Yeh LS, Tsai FJ, Tsai CH

Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan.

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.

Published 7 January 2008 in Fertil Steril.
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