Association of CYP19 gene SNPs (rs7176005 and rs6493497) with polycystic ovary syndrome susceptibility in Northern Chinese women
Abstract Purpose The objective of this study was to elucidate the relationship between two single nucleotide polymorphisms (SNPs) rs7176005 and rs6493497 in CYP19 gene and the risk of polycystic ovary syndrome (PCOS) in Northern Chinese women. Methods In this case-control study, a total of 340 women...
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2025-03-01
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| Series: | BMC Medical Genomics |
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| Online Access: | https://doi.org/10.1186/s12920-025-02115-6 |
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| author | Ya-li Hao Chun-miao Liu Na Wang Rong-miao Zhou Ya-nan Wei Xiao-shuang Bai Xi Huang |
| author_facet | Ya-li Hao Chun-miao Liu Na Wang Rong-miao Zhou Ya-nan Wei Xiao-shuang Bai Xi Huang |
| author_sort | Ya-li Hao |
| collection | DOAJ |
| description | Abstract Purpose The objective of this study was to elucidate the relationship between two single nucleotide polymorphisms (SNPs) rs7176005 and rs6493497 in CYP19 gene and the risk of polycystic ovary syndrome (PCOS) in Northern Chinese women. Methods In this case-control study, a total of 340 women with PCOS and 340 matched healthy controls were recruited. Polymerase chain reaction ligase detection reaction (PCR-LDR) method was used to investigate two SNPs (rs7176005 and rs6493497) in the 5’-flanking region of CYP19 gene exon 1. Results We observed a significant association of rs7176005 and rs6493497 with reduced risk of PCOS. Compared with CC genotype, a significant association of CT genotype (p = 0.019), TT genotype (p < 0.001) and combined CT + TT genotype (p < 0.001) with reduced risk of PCOS was observed. The result of linkage disequilibrium analysis showed that these two SNPs are in complete linkage disequilibrium (r 2 = 1). For rs7176005 SNP, compared with CC genotype, CT, TT and CT + TT genotypes reduced the risk of PCOS. The age, BMI-adjusted OR were 0.650 (95% CI = 0.460–0.917), 0.158 (95% CI = 0.066–0.376) and 0.545(95% CI = 0.391–0.759), respectively. Conclusions These findings highlight a significant association between CYP19 gene polymorphisms and PCOS susceptibility, implying potential protective effects of T and A alleles. Of course, the major limitation of this study is the sample size of the case-control study. Larger cohort studies are needed to confirm these findings and investigate the underlying causes. |
| format | Article |
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| institution | DOAJ |
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| language | English |
| publishDate | 2025-03-01 |
| publisher | BMC |
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| series | BMC Medical Genomics |
| spelling | doaj-art-fd5acef1656b46b6b9a9f3b85df77c2a2025-08-20T02:56:07ZengBMCBMC Medical Genomics1755-87942025-03-011811610.1186/s12920-025-02115-6Association of CYP19 gene SNPs (rs7176005 and rs6493497) with polycystic ovary syndrome susceptibility in Northern Chinese womenYa-li Hao0Chun-miao Liu1Na Wang2Rong-miao Zhou3Ya-nan Wei4Xiao-shuang Bai5Xi Huang6Department of Reproductive Medicine, The Fourth Hospital of Hebei Medical UniversityDepartment of Obstetrics, The Fourth Hospital of ShijiazhuangDepartment of Molecular Biology, The Fourth Hospital of Hebei Medical UniversityDepartment of Molecular Biology, The Fourth Hospital of Hebei Medical UniversityDepartment of Reproductive Medicine, The Fourth Hospital of Hebei Medical UniversityDepartment of Reproductive Medicine, The Fourth Hospital of Hebei Medical UniversityDepartment of Molecular Biology, The Fourth Hospital of Hebei Medical UniversityAbstract Purpose The objective of this study was to elucidate the relationship between two single nucleotide polymorphisms (SNPs) rs7176005 and rs6493497 in CYP19 gene and the risk of polycystic ovary syndrome (PCOS) in Northern Chinese women. Methods In this case-control study, a total of 340 women with PCOS and 340 matched healthy controls were recruited. Polymerase chain reaction ligase detection reaction (PCR-LDR) method was used to investigate two SNPs (rs7176005 and rs6493497) in the 5’-flanking region of CYP19 gene exon 1. Results We observed a significant association of rs7176005 and rs6493497 with reduced risk of PCOS. Compared with CC genotype, a significant association of CT genotype (p = 0.019), TT genotype (p < 0.001) and combined CT + TT genotype (p < 0.001) with reduced risk of PCOS was observed. The result of linkage disequilibrium analysis showed that these two SNPs are in complete linkage disequilibrium (r 2 = 1). For rs7176005 SNP, compared with CC genotype, CT, TT and CT + TT genotypes reduced the risk of PCOS. The age, BMI-adjusted OR were 0.650 (95% CI = 0.460–0.917), 0.158 (95% CI = 0.066–0.376) and 0.545(95% CI = 0.391–0.759), respectively. Conclusions These findings highlight a significant association between CYP19 gene polymorphisms and PCOS susceptibility, implying potential protective effects of T and A alleles. Of course, the major limitation of this study is the sample size of the case-control study. Larger cohort studies are needed to confirm these findings and investigate the underlying causes.https://doi.org/10.1186/s12920-025-02115-6Polycystic ovary syndromeCYP19 geneSingle nucleotide polymorphismRiskSusceptibility |
| spellingShingle | Ya-li Hao Chun-miao Liu Na Wang Rong-miao Zhou Ya-nan Wei Xiao-shuang Bai Xi Huang Association of CYP19 gene SNPs (rs7176005 and rs6493497) with polycystic ovary syndrome susceptibility in Northern Chinese women BMC Medical Genomics Polycystic ovary syndrome CYP19 gene Single nucleotide polymorphism Risk Susceptibility |
| title | Association of CYP19 gene SNPs (rs7176005 and rs6493497) with polycystic ovary syndrome susceptibility in Northern Chinese women |
| title_full | Association of CYP19 gene SNPs (rs7176005 and rs6493497) with polycystic ovary syndrome susceptibility in Northern Chinese women |
| title_fullStr | Association of CYP19 gene SNPs (rs7176005 and rs6493497) with polycystic ovary syndrome susceptibility in Northern Chinese women |
| title_full_unstemmed | Association of CYP19 gene SNPs (rs7176005 and rs6493497) with polycystic ovary syndrome susceptibility in Northern Chinese women |
| title_short | Association of CYP19 gene SNPs (rs7176005 and rs6493497) with polycystic ovary syndrome susceptibility in Northern Chinese women |
| title_sort | association of cyp19 gene snps rs7176005 and rs6493497 with polycystic ovary syndrome susceptibility in northern chinese women |
| topic | Polycystic ovary syndrome CYP19 gene Single nucleotide polymorphism Risk Susceptibility |
| url | https://doi.org/10.1186/s12920-025-02115-6 |
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