{"corpus_id":116863426,"paper_sha":"3b88c8fad28fdf0a388f4c86a0ea9df4deed3105","doi":"10.1016/j.gene.2019.04.036","arxiv_id":null,"pmid":30986448,"pmcid":null,"mag_id":2935890020,"dblp_id":null,"acl_id":null,"title":"Differential global and MTHFR gene specific methylation patterns in preeclampsia and recurrent miscarriages: A case-control study from North India.","year":2019,"publication_date":"2019-07-01","venue":"Gene","journal":{"name":"Gene","pages":"\n          68-73\n        ","volume":"704"},"journal_issn":null,"journal_title":null,"publication_types":["JournalArticle"],"pubmed_pub_types":["Journal Article"],"s2_fields_of_study":["Biology","Medicine"],"reference_count":21,"citation_count":31,"influential_citation_count":4,"is_open_access":false,"arxiv_categories":null,"arxiv_license":null,"arxiv_journal_ref":null,"mesh_headings":[{"d":"Abortion, Habitual","mj":false,"qs":[{"q":"genetics","mj":true,"ui":"Q000235"}],"ui":"D000026"},{"d":"Adult","mj":false,"ui":"D000328"},{"d":"Case-Control Studies","mj":false,"ui":"D016022"},{"d":"DNA Methylation","mj":true,"ui":"D019175"},{"d":"Female","mj":false,"ui":"D005260"},{"d":"Genetic Association Studies","mj":false,"ui":"D056726"},{"d":"Genetic Predisposition to Disease","mj":false,"ui":"D020022"},{"d":"Homocystinuria","mj":false,"qs":[{"q":"complications","mj":false,"ui":"Q000150"},{"q":"genetics","mj":false,"ui":"Q000235"}],"ui":"D006712"},{"d":"Humans","mj":false,"ui":"D006801"},{"d":"India","mj":false,"ui":"D007194"},{"d":"Methylenetetrahydrofolate Reductase (NADPH2)","mj":false,"qs":[{"q":"deficiency","mj":false,"ui":"Q000172"},{"q":"genetics","mj":true,"ui":"Q000235"}],"ui":"D042965"},{"d":"Muscle Spasticity","mj":false,"qs":[{"q":"complications","mj":false,"ui":"Q000150"},{"q":"genetics","mj":false,"ui":"Q000235"}],"ui":"D009128"},{"d":"Polymorphism, Restriction Fragment Length","mj":false,"ui":"D012150"},{"d":"Polymorphism, Single Nucleotide","mj":false,"ui":"D020641"},{"d":"Pre-Eclampsia","mj":false,"qs":[{"q":"diagnosis","mj":false,"ui":"Q000175"},{"q":"genetics","mj":true,"ui":"Q000235"}],"ui":"D011225"},{"d":"Pregnancy","mj":false,"ui":"D011247"},{"d":"Pregnancy Trimester, Second","mj":false,"qs":[{"q":"genetics","mj":false,"ui":"Q000235"}],"ui":"D011262"},{"d":"Pregnancy Trimester, Third","mj":false,"qs":[{"q":"genetics","mj":false,"ui":"Q000235"}],"ui":"D011263"},{"d":"Psychotic Disorders","mj":false,"qs":[{"q":"complications","mj":false,"ui":"Q000150"},{"q":"genetics","mj":false,"ui":"Q000235"}],"ui":"D011618"}],"chemicals":[{"n":"MTHFR protein, human","ui":"C573423","reg":"EC 1.5.1.20"},{"n":"Methylenetetrahydrofolate Reductase (NADPH2)","ui":"D042965","reg":"EC 1.5.1.20"}],"comments_corrections":null,"source_flags":5,"s2_open_access_pdf_url":null,"s2_open_access_landing_url":null,"s2_open_access_license":null,"s2_open_access_status":null,"pmc_open_access_pdf_url":null,"pmc_open_access_landing_url":null,"pmc_open_access_license":null,"pmc_open_access_status":null,"unpaywall_open_access_pdf_url":null,"unpaywall_open_access_landing_url":null,"unpaywall_open_access_license":null,"unpaywall_open_access_status":null,"abstract":"AIM\nThe purpose of the present study is to evaluate and understand the association of global and MTHFR gene specific methylation in preeclampsia and recurrent miscarriages in light of MTHFR C677T polymorphism.\n\n\nMETHODS\nThe subjects comprised of recurrent miscarriage cases, their gestation matched controls, preeclampsia cases and matched controls. A set of women at full term were also recruited. Fasting blood sample (~5 ml) was drawn from all the participants followed by DNA extraction, global DNA methylation and MTHFR gene specific methylation. MTHFR C677T polymorphism was analysed by PCR followed by RFLP.\n\n\nRESULTS HIGHER\nGlobal DNA methylation at maternal front (p = 0.04) and hypomethylation of MTHFR gene at fetal front (p = 0.001) might be a characteristic of preeclampsia. Recurrent miscarriage cases were having significantly (p = 0.002) hyper MTHFR gene specific methylation as compared to controls. Women carrying CT genotype were found to be having significantly (p = 0.001) higher global DNA methylation in PE cases and MTHFR gene specific methylation (p = 0.005) in RM cases. Intergenerational analysis revealed similar patterns of global DNA methylation and MTHFR gene specific methylation among both PE and RM cases at maternal and fetal fronts.\n\n\nCONCLUSION\nThe study highlights the importance of global DNA methylation in Preeclampsia and MTHFR gene specific methylation in recurrent miscarriages. MTHFR C677T gene polymorphism in association with global and gene specific methylation seem to play a pivotal role in PE and RM respectively.","claims":[{"public_id":"cl_b4476f7023aa8c29fd4702531d5f6992","status":"active","text":"Global DNA methylation at the maternal front and hypomethylation of the MTHFR gene at the fetal front are characteristic of preeclampsia.","confidence":0.95,"contributors":[{"id":1,"public_id":"12632b8b5f","public_label":"Anonymous (12632b8b5f)","roles":["extraction"],"url":"https://sah.borca.ai/u/12632b8b5f"}],"url":"https://sah.borca.ai/claims/cl_b4476f7023aa8c29fd4702531d5f6992"},{"public_id":"cl_2a494dd9ee2b796d4897d5f68ad2df6b","status":"active","text":"Intergenerational analysis shows similar patterns of global DNA methylation and MTHFR gene-specific methylation in both preeclampsia and recurrent miscarriage at maternal and fetal fronts.","confidence":0.9,"contributors":[{"id":1,"public_id":"12632b8b5f","public_label":"Anonymous (12632b8b5f)","roles":["extraction"],"url":"https://sah.borca.ai/u/12632b8b5f"}],"url":"https://sah.borca.ai/claims/cl_2a494dd9ee2b796d4897d5f68ad2df6b"},{"public_id":"cl_f12ece7719ff82a54b92ba02d1f7e1ca","status":"active","text":"MTHFR C677T polymorphism appears to play a pivotal role together with global and gene-specific methylation in preeclampsia and recurrent miscarriage, respectively.","confidence":0.86,"contributors":[{"id":1,"public_id":"12632b8b5f","public_label":"Anonymous (12632b8b5f)","roles":["extraction"],"url":"https://sah.borca.ai/u/12632b8b5f"}],"url":"https://sah.borca.ai/claims/cl_f12ece7719ff82a54b92ba02d1f7e1ca"},{"public_id":"cl_4ef58573358d8b666be76e605b94c80d","status":"active","text":"Recurrent miscarriage cases show significantly higher MTHFR gene-specific hypermethylation than controls.","confidence":0.96,"contributors":[{"id":1,"public_id":"12632b8b5f","public_label":"Anonymous (12632b8b5f)","roles":["extraction"],"url":"https://sah.borca.ai/u/12632b8b5f"}],"url":"https://sah.borca.ai/claims/cl_4ef58573358d8b666be76e605b94c80d"},{"public_id":"cl_2477b5599b72623839520e4c0005d3fb","status":"active","text":"Women carrying the CT genotype have significantly higher global DNA methylation in preeclampsia cases and higher MTHFR gene-specific methylation in recurrent miscarriage cases.","confidence":0.94,"contributors":[{"id":1,"public_id":"12632b8b5f","public_label":"Anonymous (12632b8b5f)","roles":["extraction"],"url":"https://sah.borca.ai/u/12632b8b5f"}],"url":"https://sah.borca.ai/claims/cl_2477b5599b72623839520e4c0005d3fb"}],"concepts":[{"public_id":"co_309023d60e8680b3a092d77ce4440610","status":"active","name":"fetal front","description":"The fetal side or fetal component of the sampled pregnancy context.","types":["study domain"],"aliases":["fetal side"],"contributors":[{"id":1,"public_id":"12632b8b5f","public_label":"Anonymous 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