Identification of pelvic organ prolapse risk susceptibility gene SNP locus in Xinjiang women
Identification of pelvic organ prolapse risk susceptibility gene SNP locus in Xinjiang women
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DOI：
10.1007/s00192-019-04039-z
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发表时间：
2020-01-01
影响因子：
1.8
通讯作者：
Zhakeer, Adilai
中科院分区：
文献类型：
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作者：
Abulaizi, Aibibuhan;Abula, Abudoureyimu;Zhakeer, Adilai
前言与假说易感基因在盆腔器官脱垂（POP）的发生中起着重要作用，并具有区域特异性。本研究旨在明确新疆不同遗传背景少数民族人群POP易感基因及其位点，为POP的早期诊断、治疗和预防提供理论依据。方法从196例患者外周血中提取基因组DNA，其中POP患者88例，非盆底功能障碍患者108例。我们选择了16个不同的易感基因的单核苷酸多态性（SNP）位点，这已被确定为与POP的风险在其他国家的研究人员，并通过快照反应进行基因分型。用SPSS17.0软件分析等位基因和基因型频率、比值比（OR）和95%可信区间（CI）。结果在少数民族妇女中，ESR 1 rs 17847075 AG：OR = 2.738，95%CI = 1.067-7.025，P = 0.041; ESR 1 rs 2234693 TC：OR = 2.738，95%CI = 1.067-7.025，P = 0.041。OR = 2.99，95% CI = 1.163-7.684，P = 0.024; ZFAT rs 1036819 CC：OR = 10.286，95% CI = 1.158-91.386，P = 0.036; C等位基因：OR = 2.212，95% CI = 1.146-4.269，P = 0.02; FBLN 5 rs 12589592 AA：OR = 0.111，95%CI = 0.013-0.952，P = 0.029;等位基因A：OR = 0.482，95%CI = 0.254-0.913，P = 0.028。结论ESR 1 rs 17847075基因型AG为优势模式（P = 0.008）或杂合子模型（P = 0.045），ESR 1 rs 2234693基因型TC在显性模型中ZFAT rs 1036819基因型CC和等位基因C与新疆妇女POP的发病风险显著相关（P = 0.008），ZFAT rs 1036819基因型CC和等位基因C与新疆妇女POP的发病风险显著相关（P = 0.042）。
Introduction and hypothesis Susceptibility genes play an important role and have regional specificity in the occurrence of pelvic organ prolapse (POP). This study aims to identify POP susceptibility genes and their loci in ethnic minorities with different genetic backgrounds from Xinjiang in China, providing a theoretical basis for early POP diagnosis, treatment and prevention. Methods Genomic DNA from peripheral blood of 196 patients was prepared; there were 88 POP patients and 108 non-pelvic floor dysfunction patients. We selected 16 different susceptibility gene single-nucleotide polymorphism (SNP) loci, which had been identified as associated with POP risk by researchers in other countries, and carried out genotyping through the Snapshot reaction. The allele and genotype frequencies, odds ratio (OR) and 95% confidence interval (CI) were analyzed using SPSS 17.0 software. Results The genotypic and allelic distributions demonstrated significant differences between the patients and the control subjects in the group of minority women, details are as follows: ESR1 rs17847075 AG: OR = 2.738, 95% CI = 1.067-7.025, P = 0.041; ESR1 rs2234693 TC: OR = 2.99, 95% CI = 1.163-7.684, P = 0.024; ZFAT rs1036819 CC: OR = 10.286, 95% CI = 1.158-91.386, P = 0.036; allele C: OR = 2.212, 95% CI = 1.146-4.269; P = 0.02; FBLN5 rs12589592 AA: OR = 0.111, 95% CI = 0.013-0.952, P = 0.029; allele A: OR = 0.482, 95% CI = 0.254-0.913, P = 0.028. Conclusions ESR1 rs17847075 genotype AG in the dominant model (P = 0.008) or heterozygous model (P = 0.045), ESR1 rs2234693 genotype TC in the dominant model (P = 0.008) or heterozygous model (P = 0.028), and ZFAT rs1036819 genotype CC and allele C in the recessive model (P = 0.042) were significantly associated with POP risk in Xinjiang woman.