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.
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