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Polymorphisms within the FANCA gene associate with premature ovarian failure in Korean women

Pyun, Jung-A. MS1; Kim, Sunshin PhD1; Cha, Dong Hyun MD, PhD2; Kwack, KyuBum PhD1

doi: 10.1097/GME.0b013e3182a4323e
Brief Report

Objective This study investigated whether polymorphisms within the Fanconi anemia complementation group A (FANCA) gene contribute to the increased risk of premature ovarian failure (POF) in Korean women.

Methods Ninety-eight women with POF and 218 controls participated in this study. Genomic DNA from peripheral blood was isolated, and GoldenGate genotyping assay was used to identify single nucleotide polymorphisms (SNPs) within the FANCA gene.

Results Two significant SNPs (rs1006547 and rs2239359; P < 0.05) were identified by logistic regression analysis, but results were insignificant after Bonferroni correction. Six SNPs formed a linkage disequilibrium block, and three main haplotypes were found. Two of three haplotypes (AAAGAA and GGGAGG) distributed highly in the POF group, whereas the remaining haplotype (GGAAGG) distributed highly in the control group by logistic regression analysis (highest odds ratio, 2.515; 95% CI, 1.515-4.175; P = 0.00036).

Conclusions Our observations suggest that genetic variations in the FANCA gene may increase the risk for POF in Korean women.

From the 1Department of Biomedical Science, College of Life Science, CHA University, Seongnam-si, Gyeonggi-do, Republic of Korea; and 2Division of Genetics, Department of Obstetrics and Gynecology, College of Medicine, CHA General Hospital, CHA University, Seoul, Republic of Korea.

Received April 11, 2013; revised and accepted July 1, 2013.

Funding/support: This research was supported by Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education (2009-0093821, 2011-0010637).

Financial disclosure/conflicts of interest: None reported.

Address correspondence to: KyuBum Kwack, PhD, Department of Biomedical Science, College of Life Science, CHA University, 222 Yatap-dong, Bundang-gu, Seongnam-si, Gyeonggi-do 463-836, Republic of Korea. E-mail:,

© 2014 by The North American Menopause Society.