Association analysis of SNP-63 and indel-19 variant in the calpain-10 gene with polycystic ovary syndrome in women of reproductive age1

Flores-Martínez, Silvia Esperanza; Castro-Martínez, Anna Gabriela; López-Quintero, Andrés; Garcı́a-Zapién, Alejandra Guadalupe; Torres-Rodríguez, Ruth Noemí; Sánchez‐Corona, José

doi:10.1016/j.circen.2014.08.004

Cited by 4 publications

(3 citation statements)

References 28 publications

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“…PCOS is relatively common in women of reproductive age and is one of the main causes of infertility. Its main pathological feature is the disorder of sex hormone secretion (12,13). Studies have shown that the main pathological mechanisms of PCOS are hyperandrogenism and insulin resistance, but abnormal immune function, activation of inflammatory factors, and oxidative stress also affect the progression of PCOS (14).…”

Section: Discussionmentioning

confidence: 99%

Exploring the molecular targets and mechanism of S. miltiorrhiza-C. aromatica in treating polycystic ovary syndrome based on network pharmacology

Yu¹,

Zhang²,

Yin³

et al. 2023

Ann Transl Med

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Background: S. miltiorrhiza-C. aromatica (Danshen-Yujin; red sage and turmeric) is a frequently used Chinese herbal medicine pair in treating polycystic ovary syndrome (PCOS). This study aimed to classify the molecular targets and mechanisms participating in treating PCOS through network pharmacology.Methods: The Traditional Chinese Medicine Systems Pharmacology (TCMSP) platform was employed for screening the active ingredients of S. miltiorrhiza-C. aromatica. The molecular targets from the UniProt database were identified and compared to the differentially expressed genes (DEGs) in the Gene Expression Omnibus (GEO) dataset GSE34526; the intersecting genes were obtained by constructing a Venn diagram.Protein-protein interaction (PPI) network construction and Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Ontology (GO) enrichment analyses were made on the crossover genes. A key protein 3-dimensional (3D) structure was created using the Research Collaboratory for Structural Bioinformatics Protein Data Bank (RCDB PDB) database. Finally, the clinical data of 104 hospital-admitted PCOS patients from January 2018 to December 2020 were retrospectively analyzed to explore and analyze the clinical value of S. miltiorrhiza-C. aromatica in treating PCOS.Results: In the TCMSP database, we found a total of 80 active ingredients in S. miltiorrhiza-C. A high clustering and three key proteins were obtained A high-scoring cluster and 3 key proteins, AOAH, HCK, and C1orf162, were obtained through the construction of protein mutual aid network and module analysis of differential genes. KEGG and GO enrichment analyses indicated that the S. miltiorrhiza-C. aromatica treatment mechanism in PCOS was mainly involved with inflammation-related pathways. The clinical data of PCOS patients were retrospectively analyzed. In the end, The long diameter of the ovary, the thickness of the endometrium, and the antral follicle count in the combined treatment group of S. miltiorrhiza-C. aromatica combined with clomiphene were higher after treatment than before treatment, and the clinical symptoms and hormone levels were also improved.Conclusions: This study expounds the research value of S. miltiorrhiza-C. aromatica in treating PCOS from the perspectives of active ingredients, targets, signaling pathways, and clinical research. These findings also provide an important reference for treating PCOS with traditional Chinese medicine (TCM).

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Section: Discussionmentioning

confidence: 99%

Exploring the molecular targets and mechanism of S. miltiorrhiza-C. aromatica in treating polycystic ovary syndrome based on network pharmacology

Yu¹,

Zhang²,

Yin³

et al. 2023

Ann Transl Med

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“…In a discovery cohort, FKBP4 (a kind of androgen receptor gene) SNPs rs2968909 and rs4409904 were associated with lower odds of PCOS [ 34 ]. Among the multiple SNPs associated with PCOS [ 35 , 36 ], an example is a SNP at exon 17 of insulin receptor gene ( INSR ), for which the CC genotype showed a higher frequency in PCOS women than in controls [ 37 ]. Additionally, PCOS patients show an elevated frequency for the G allele of a SNP in sorbin and SH3-domain-containing-1 ( SORBS1 ), which encodes a protein known to function in both insulin resistance and glucose uptake [ 38 ].…”

Section: Discussionmentioning

confidence: 99%

Association of SNPs in the FK-506 binding protein (FKBP5) gene among Han Chinese women with polycystic ovary syndrome

Wang

Zhang

et al. 2022

BMC Med Genomics

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Background Polycystic ovary syndrome (PCOS) is a common endocrine disorder in premenopausal women, whose etiology remains uncertain, although it is known to be highly heterogeneous and genetically complex. PCOS often presents with hyperandrogenism symptoms. The present study aimed to determine whether polymorphisms in the FK-506 binding protein 5 (FKBP5) gene (androgen target gene) are associated with an association for PCOS and hyperandrogenism. Methods This is a case–control study, and association analyses were conducted. A total of 13 single-nucleotide polymorphisms (SNPs) in the FKBP5 gene were evaluated in 775 PCOS patients who were diagnosed based on the Rotterdam Standard and 783 healthy Chinese Han women. Associations between FKBP5 SNPs and hormone levels were investigated. These 13 SNPs were genotyped using the Sequenom MassARRAY system, and an association analysis between the phenotype and alleles and genotypes were conducted. Results The genotype frequencies for the rs1360780 and rs3800373 SNPs differed significantly between the PCOS cases and healthy controls (p = 0.025, OR is 1.63 (1.05–2.53) and p = 0.029, OR is 1.59 (1.03–2.45) respectively under co-dominant model). Moreover, the genotype frequencies and genetic model analysis for the SNPs rs1360780, rs9470080, rs9296158, rs1043805 and rs7757037 differed significantly between the hyperandrogenism and non-hyperandrogenism groups of PCOS patients. The TT genotype of rs1360780, the TT genotype of rs9470080, the TT genotype of rs1043805 or the GG genotype of rs7705037 (ORs are 2.13 (1.03–4.39), 1.81 (1.03–3.17), 2.94 (1.32–6.53) and 1.72 (1.04–2.84) respectively) were correlated with androgen level of PCOS patients. Conclusion Our study showed that FKBP5 gene polymorphisms are associated with PCOS generally (rs1360780 and rs3800373) and with the hyperandrogenism subtype specifically (rs1360780, rs9470080, rs9296158, rs1043805 and rs7757037).

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“…a relationship between UcSNP-43 and UcSNP-44 and lipid metabolism disorders in women with PcoS without diabetes [20,21] was also reported. Numerous studies demonstrated a relationship between polymorphism of the calpain 10 gene and the occurrence of metabolic disorders in PcoS [22][23][24]. tkać et al evaluated the effect of the calpain gene on the efficacy of treatment in 6-month metformin therapy in a study which involved 148 people with type 2 diabetes [25].…”

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confidence: 99%

Association between a nucleotide polymorphism in the calpain 10 gene and carbohydrate metabolism disturbances in patients with polycystic ovary syndrome

Szydlarska¹,

Machaj²

2016

fmpcr

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Association analysis of SNP-63 and indel-19 variant in the calpain-10 gene with polycystic ovary syndrome in women of reproductive age1

Cited by 4 publications

References 28 publications

Exploring the molecular targets and mechanism of S. miltiorrhiza-C. aromatica in treating polycystic ovary syndrome based on network pharmacology

Exploring the molecular targets and mechanism of S. miltiorrhiza-C. aromatica in treating polycystic ovary syndrome based on network pharmacology

Association of SNPs in the FK-506 binding protein (FKBP5) gene among Han Chinese women with polycystic ovary syndrome

Association between a nucleotide polymorphism in the calpain 10 gene and carbohydrate metabolism disturbances in patients with polycystic ovary syndrome

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