HOTAIR 多态性 rs4759314、rs920778、rs1899663 和 rs7958904 与韩国女性原发性卵巢功能不全风险的关联。
Associations between HOTAIR polymorphisms rs4759314, rs920778, rs1899663, and rs7958904 and risk of primary ovarian insufficiency in Korean women.
机构信息
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.
Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam, 13496, South Korea.
出版信息
Maturitas. 2021 Feb;144:74-80. doi: 10.1016/j.maturitas.2020.10.023. Epub 2020 Nov 4.
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.
背景
我们研究了 Hox 转录反义 RNA（HOTAIR）多态性 rs4759314、rs920778、rs1899663 和 rs7958904 与韩国女性原发性卵巢功能不全（POI）之间的关联。
方法
我们进行了一项病例对照研究，纳入了 134 名韩国女性 POI 患者和 383 名至少有一次活产且无妊娠丢失史的对照个体。
结果
与该位点的其他基因型相比，rs1899663 的 GT 基因型与 POI 的发病风险降低相关。此外，与野生型纯合基因型相比，rs4759314 的 AA 基因型和 rs7958904 的 GC 基因型的组合与 POI 的发病风险降低相关（P<0.05），而 rs1899663 的 GG 基因型和 rs7958904 的 GC 基因型的组合与 POI 的发病风险增加相关（P=0.003）。单体型分析显示，涉及部分或全部多态性的某些单体型与 POI 的发病风险降低相关，而其他单体型与 POI 的发病风险增加相关。POI 患者与对照个体的血清黄体生成素、卵泡刺激素和雌二醇水平存在差异（P<0.05）。
结论
我们的结果表明，HOTAIR 多态性 rs4759314、rs920778、rs1899663 和 rs7958904 参与了 POI 的发生。
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