First Evidence of Genetic Association Between the MIF-173G/C Single-Nucleotide Polymorphisms and Polycystic Ovary Syndrome

Li, Chao; Qiao, Binglong; Zhan, Ying; Qi, Weihong; Chen, Zi‐Jiang

doi:10.1111/j.1600-0897.2011.01011.x

Cited by 4 publications

(1 citation statement)

References 29 publications

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“…Omics, including genetics, proteomics, and metabonomics, are hypothesis-free methods that may help us find useful biomarkers for the diagnosis of PCOS and studies of its mechanism. − Genetic polymorphisms associated with PCOS have been reported, − proteomic studies have been undertaken recently, − and novel plasma markers have been identified . However, there are no published metabonomic investigations of PCOS.…”

Section: Introductionmentioning

confidence: 99%

Metabonomics Reveals Plasma Metabolic Changes and Inflammatory Marker in Polycystic Ovary Syndrome Patients

et al. 2012

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Polycystic ovary syndrome (PCOS) is a common, clinically heterogeneous endocrine disorder affecting women of reproductive age, associated with endocrinopathy and metabolic abnormalities. Although some metabolic parameters have been investigated, very little information has been reported on the changes of small metabolites in biofluids. The aim of this study was to establish the metabolic profile of PCOS and compare it with that of controls. In this cross-sectional study of 34 women with PCOS and 36 controls, contents of small metabolites and lipids in plasma samples were measured using nuclear magnetic resonance (NMR)-based techniques and analyzed using multivariate statistical methods. Significant decrease (P < 0.05) in the levels of amino acids (leucine, isoleucine, methionine, glutamine, and arginine), citrate, choline, and glycerophosphocholine/phosphocholine (GPC/PC), and increase (P < 0.05) in the levels of lactate, dimethylamine (DMA), creatine, and N-acetyl glycoproteins were observed in PCOS patients compared with the controls. Subgroups of patients with obesity, metabolic syndrome, or hyperandrogenism exhibited greater metabolic deviations than their corresponding subgroups without these factors. PCOS patients have perturbations in amino acid metabolism, the tricarboxylic acid (TCA) cycle, and gut microflora, as well as mild disturbances in glucose and lipid metabolism. The elevated level of N-acetyl glycoproteins demonstrates the existence of low-grade chronic inflammation in PCOS patients.

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Section: Introductionmentioning

confidence: 99%

Metabonomics Reveals Plasma Metabolic Changes and Inflammatory Marker in Polycystic Ovary Syndrome Patients

et al. 2012

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A kaleidoscopic view of ovarian genes associated with polycystic ovary syndrome

2021

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Polycystic ovary syndrome (PCOS) is the most common endocrine and metabolic disorder affecting 6%-10% of reproductive-age women, and it is associated with defects in follicle functions. On the basis of advances in the evaluation of gene variants, together with family-based and genome-wide association studies, we discussed genes associated with PCOS. We used a gene-centric approach to sort out literature deposited in the Ovarian Kaleidoscope database (http://okdb.appliedbioinfo.net) by subcategorizing candidate genes as ligand-receptor signaling, meiosis and deoxyribonucleic acid repair, transcriptional factors, ribonucleic acid metabolism, enzymes, and others. Although multiple individual candidate genes with single nucleotide polymorphisms have been identified in patients with PCOS, only a limited number of findings have been verified and deal with genes with known ovarian functions. On the basis of genome-wide association studies, a limited group of PCOS candidate genes, including FSHB, FSHR, LHR, YAP1, AOPEP/C9orf3, RAB5/SUOX, THADA, and DENND1A, yielded consistent association in good-quality studies in both Caucasian and Chinese populations. Although some of these genes have known ovarian functions, the ovarian expression and function of others remain to be elucidated. Overall, PCOS candidate genes are likely associated with abnormal gene expression because of their recent evolutionary origins. Studying rare variants in complex diseases such as PCOS presents unique challenges. The identification of rare variants and functional gene networks by next-generation sequencing along with epigenetic studies may increase our understanding of the genetic bases of PCOS. A better definition of unique diseases underlying PCOS on the basis of ovarian expression patterns could provide new diagnosis and treatments.

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Role of MIF-173G/C and Mbl2 Codon 54A/B Variants in the Risk of Multiple Myeloma: An Association Study

Pehlıvan

Nursal

Gündeş

et al. 2021

EMIDDT

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Background: Multiple myeloma (MM) is a malignant disease manifested by the clonal proliferation of atypical plasma cells. Macrophage inhibitory factor (MIF) is one of the pleiotropic regulators in various biological and cellular processes. Mannose-binding lectin (MBL) is a crucial protein involved in the lectin pathway of the immune system. Objective: We aimed to assess whether variants of MIF and MBL2 genes are associated with MM among a Turkish population. Methods: We analyzed the MIF-173G/C (rs755622) and MBL2 codon 54A/B (rs1800450) variants in 200 patients with MM and 200 healthy control subjects using a polymerase chain reaction (PCR) followed by restriction endonuclease digestion. There was also an evaluation of the patients undergoing autologous stem-cell transplantation (ASCT) for these variants. Results: AA and BB genotypes of MBL2 codon 54A/B increased in the patients as compared to the controls (p=0.008, p=0.001, respectively). The subjects carrying AA and BB genotypes of MBL2 were at high risk of development of susceptibility to MM by 7.377 and 8.812 times, respectively. The distribution of MBL2 codon 54A/B alleles was similar between the groups (p>0 .05). There was no statistical difference between the patients and controls in the genotype and allele frequencies of the MIF-173G/C variant (p>0 .05). The patients undergoing ASCT, MBL2 codon54A/B AA and BB genotypes also showed association with increased risk for MM (p=0.004, p=0.001, respectively). Conclusion: As far as we know, this is the first report of the study on an association between these variants and MM in our population. Our results indicate that the MBL2 codon 54A/B variant may be associated with susceptibility to MM.

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First Evidence of Genetic Association Between the MIF-173G/C Single-Nucleotide Polymorphisms and Polycystic Ovary Syndrome

Abstract: The MIF-173G/C polymorphism is associated with PCOS in Chinese Han women and may contribute to the phenotypic expression of PCOS.

Cited by 4 publications

References 29 publications

Metabonomics Reveals Plasma Metabolic Changes and Inflammatory Marker in Polycystic Ovary Syndrome Patients

Metabonomics Reveals Plasma Metabolic Changes and Inflammatory Marker in Polycystic Ovary Syndrome Patients

A kaleidoscopic view of ovarian genes associated with polycystic ovary syndrome

Role of MIF-173G/C and Mbl2 Codon 54A/B Variants in the Risk of Multiple Myeloma: An Association Study

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