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Associations between HOTAIR polymorphisms rs4759314, rs920778, rs1899663, and rs7958904 and risk of primary ovarian insufficiency in Korean women

  • Author Footnotes
    1 Sung Hwan Cho and Ji Hyang Kim contributed equally to this work.
    Sung Hwan Cho
    Footnotes
    1 Sung Hwan Cho and Ji Hyang Kim contributed equally to this work.
    Affiliations
    Department of Biomedical Science, College of Life Science, CHA University, Seongnam, 13488, South Korea

    Kangwon Institute of Inclusive Technology, Kangwon National University, Chuncheon, Gangwon-do, South Korea
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  • Author Footnotes
    1 Sung Hwan Cho and Ji Hyang Kim contributed equally to this work.
    Ji Hyang Kim
    Footnotes
    1 Sung Hwan Cho and Ji Hyang Kim contributed equally to this work.
    Affiliations
    Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam, 13496, South Korea
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  • Hyun Woo Park
    Affiliations
    Department of Biomedical Science, College of Life Science, CHA University, Seongnam, 13488, South Korea
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  • Han Sung Park
    Affiliations
    Department of Biomedical Science, College of Life Science, CHA University, Seongnam, 13488, South Korea
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  • Hui Jeong An
    Affiliations
    Department of Biomedical Science, College of Life Science, CHA University, Seongnam, 13488, South Korea
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  • Young Ran Kim
    Affiliations
    Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam, 13496, South Korea
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  • Eun Hee Ahn
    Affiliations
    Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam, 13496, South Korea
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  • Woo Sik Lee
    Affiliations
    Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, 06135, South Korea
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  • Nam Keun Kim
    Correspondence
    Corresponding author at: Department of Biomedical Science, College of Life Science, CHA University, 335 Pankyo-ro, Seongnam, Gyeonggi, 13488, Republic of Korea
    Affiliations
    Department of Biomedical Science, College of Life Science, CHA University, Seongnam, 13488, South Korea

    Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam, 13496, South Korea
    Search for articles by this author
  • Author Footnotes
    1 Sung Hwan Cho and Ji Hyang Kim contributed equally to this work.

      Highlights

      • In this study, we show that HOTAIR polymorphisms rs4759314, rs920778, rs1899663, and rs7958904 are associated with primary ovarian insufficiency.
      • The GT genotype of rs1899663 of HOTAIR polymorphisms was associated with a decreased risk of primary ovarian insufficiency compared with other genotypes at that locus.
      • The combination of the AA genotype of rs4759314 and the GC genotype of rs7958904 was associated with a decreased risk of primary ovarian insufficiency.
      • The GG genotype of rs1899663 and the GC genotype of rs7958904 were associated with an increased risk of primary ovarian insufficiency compared with the wild-type homozygous genotypes.
      • Our results suggest that the HOTAIR polymorphisms rs4759314, rs920778, rs1899663, and rs7958904 are involved in primary ovarian insufficiency.

      Abstract

      Background

      We investigated the association between the Hox transcript antisense RNA (HOTAIR) polymorphisms rs4759314, rs920778, rs1899663, and rs7958904 and primary ovarian insufficiency (POI) in Korean women.

      Methods

      We conducted a case-control study of 134 Korean women with POI and 383 control individuals with at least one live birth and no history of pregnancy loss.

      Results

      The GT genotype of rs1899663 was associated with a decreased risk of POI compared with other genotypes at that locus. In addition, compared with the wild-type homozygous genotypes, the combination of the AA genotype of rs4759314 and the GC genotype of rs7958904 was associated with a decreased risk of POI (P < 0.05), whereas the combination of the GG genotype of rs1899663 and the GC genotype of rs7958904 was associated with an increased risk of POI (P = 0.003). Haplotype analysis revealed that certain haplotypes involving some or all of the polymorphisms were associated with a decreased risk of POI, whereas other haplotypes were associated with an increased risk of POI. Serum levels of luteinizing hormone, follicle-stimulating hormone, and estradiol differed between patients with POI and control individuals (P < 0.05).

      Conclusions

      Our results suggest that the HOTAIR polymorphisms rs4759314, rs920778, rs1899663, and rs7958904 are involved in POI.

      Keywords

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