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doi: 10.1097/GME.0000000000000226
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Epistasis between polymorphisms in PCSK1 and DBH is associated with premature ovarian failure.

Pyun, Jung-A MS; Kim, Sunshin PhD; Cha, Dong Hyun MD, PhD; Kwack, KyuBum PhD

Published Ahead-of-Print
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Objective: This study examined whether epistasis between single nucleotide polymorphisms (SNPs) within proprotein convertase subtilisin/kexin type 1 (PCSK1) and dopamine [beta]-hydroxylase (DBH) genes is associated with premature ovarian failure (POF).

Methods: One hundred twenty women with POF and 222 female controls were recruited for this study. To genotype SNPs within PCSK1 and DBH, we used a GoldenGate assay with VeraCode technology, which uses an allele-specific primer extension method.

Results: Two SNPs (rs155979 and rs3762986) within PCSK1 and one SNP (rs1611114) within DBH, which were located in the 5' flanking region, were involved in synergistic interactions. The C allele in the rs155979 SNP showed an increased risk of POF in a dominant model when AA genotype in the rs1611114 SNP was present (odds ratio, 3.60; 95% CI, 1.82-7.14; P = 0.00024), whereas the G allele in the rs1611114 SNP showed a reduced risk of POF in a dominant model when at least one C allele at the rs155979 SNP was present (odds ratio, 0.24; 95% CI, 0.11-0.51; P = 0.00018) or one G allele at the rs3762986 SNP was present (odds ratio, 0.33; 95% CI, 0.19-0.60; P = 0.00023).

Conclusions: Epistases between SNPs within PCSK1 and DBH genes are significantly associated with susceptibility or resistance to POF.

(C) 2014 by The North American Menopause Society.


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