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X-ray repair cross-complementing group 4 (XRCC4) promoter L1394*T-related genotype, but not XRCC4 codon 247/intron 3 or xeroderma pigmentosum group D codon 312, 751/promoter L114, polymorphisms are correlated with higher susceptibility to myoma

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Author(s): Hsieh, YY (Hsieh, Yao-Yuan); Chang, CC (Chang, Chi-Chen); Bau, DT (Bau, Da- Tian); Yeh, LS (Yeh, Lian-Shen); Tsai, FJ (Tsai, Fuu-Jen); Tsai, CH (Tsai, Chang-Hai)

Title: 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 Source: FERTILITY AND STERILITY, 90: 1417-1423 Suppl. 2 OCT 2008

Language: English Document Type: Article

Author Keywords: DNA repair; leiomyoma; polymorphism; xeroderma pigmentosum; XRCC4 KeyWords Plus: BREAST-CANCER RISK; LUNG-CANCER; XPD POLYMORPHISMS;

GENE XPD; COLORECTAL-CANCER; PANCREATIC-CANCER; GROUP-A; DNA;

POPULATION; CHEMOTHERAPY

Abstract: 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 75 1, 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*Pi/ID/DD were [1] 95%/50%/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 75 1 *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 75 1, and XPD promoter - 114 polymorphisms are not correlated with its development.

Addresses: [Tsai, Fuu-Jen] China Med Univ Hosp, Dept Pediat & Med Genet, Grad Inst Chinese Med Sci, Taichung, Taiwan; [Hsieh, Yao-Yuan; Chang, Chi-Chen; Yeh, Lian-Shen]

China Med Univ Hosp, Dept Obstet & Gynecol, Taichung, Taiwan; [Bau, Da-Tian; Tsai, Fuu- Jen; Tsai, Chang-Hai] China Med Univ Hosp, Dept Med Res, Taichung, Taiwan; [Tsai, Chang-

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Hai] Asia Univ, Taichung, Taiwan

Reprint Address: Tsai, FJ, China Med Univ Hosp, Dept Pediat & Med Genet, Grad Inst Chinese Med Sci, 2 Yuh Der Rd, Taichung, Taiwan.

E-mail Address: [email protected]

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Cited Reference Count: 38 Times Cited: 0

Publisher: ELSEVIER SCIENCE INC

Publisher Address: 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA ISSN: 0015-0282

DOI: 10.1016/j.fertnstert.2007.09.038 29-char Source Abbrev.: FERT STERIL ISO Source Abbrev.: Fertil. Steril.

Source Item Page Count: 7

Subject Category: Obstetrics & Gynecology; Reproductive Biology ISI Document Delivery No.: 358US

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