Ezzidi Intissar, Mtiraoui Nabil, Mohmmed Ali Mohammed Eltigani, Al Masoudi Aqeel, Abu Duhier Faisel
Prince Fahd Bin Sultan Research Chair, Using Advance Technology for Diseases Detection and Treatment, Medical Laboratory Technology Department, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia.
Laboratory of Human Genome and Multifactorial Diseases, LR12ES07, Faculty of Pharmacy of Monastir, University of Monastir, Monastir, Tunisia.
Gynecol Endocrinol. 2020 Jan;36(1):66-71. doi: 10.1080/09513590.2019.1632830. Epub 2019 Jun 27.
The aim of this study is to assess the association of nine SNPs on on the PCOS risk among Saudi Arabian Women. A case-control study, including 162 cases and 162 controls in Saudi Arabia, was enrolled. Genotyping was carried out by the allelic discrimination method. Estimated haplotype frequencies were assessed using the maximum likelihood method. Results showed that SNPs were not associated with PCOS for allelic and genotypic frequencies ( > .05). In haplotype estimation analysis, a significant positive association was detected between 21211 haplotype (rs2241766/rs1501299/rs2241767/rs3774261/rs17366743) in additive model with increased risk of PCOS ( = .009, OR = 2.16 [1.22-3.82] CI 95%). None of the nine SNPs illustrated significant association with the quantitative traits after multiple test corrections. These results support a significant association of 21211 haplotype (rs2241766/rs1501299/rs2241767/rs3774261/rs17366743) of gene in Saudi women with polycystic ovary syndrome.
本研究的目的是评估沙特阿拉伯女性中9个单核苷酸多态性（SNP）与多囊卵巢综合征（PCOS）风险之间的关联。开展了一项病例对照研究，纳入了沙特阿拉伯的162例病例和162例对照。采用等位基因鉴别法进行基因分型。使用最大似然法评估估计的单倍型频率。结果显示，SNP的等位基因频率和基因型频率与PCOS无关联（P＞0.05）。在单倍型估计分析中，检测到21211单倍型（rs2241766/rs1501299/rs2241767/rs3774261/rs17366743）在加性模型中与PCOS风险增加存在显著正相关（P = 0.009，比值比[OR]=2.16[1.22 - 3.82]，95%置信区间[CI]）。经过多重检验校正后，9个SNP均未显示与数量性状有显著关联。这些结果支持沙特女性中某基因的21211单倍型（rs2241766/rs1501299/rs2241767/rs3774261/rs17366743）与多囊卵巢综合征存在显著关联。
