{"id":"76d1780e-9392-5029-9263-24c57b159dc5","stable_key":"27e0c1cf-7726-5164-8b15-27a631584cd0:choline-pemt-snp-risk","predicate":"is_associated_with","statement":"Among women, 18 of 23 PEMT rs12325817 C-allele carriers developed organ dysfunction during depletion; reported odds ratio 25, p=0.002.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"0ada55f5-ca2a-5d24-8049-618ddc60bbc6","mechanism_event_label":"This variant marked higher susceptibility in the small study.","subject":{"id":"8e5f7911-ad0f-5834-aae3-4977ef3cc0be","slug":"pemt-rs12325817-c","display_name":"PEMT rs12325817 C allele in the 2006 depletion study","entity_type_key":"gene"},"object":{"id":"57aaf728-3b0f-5dda-b2e4-69ddef823b6b","slug":"human-choline-depletion-organ-dysfunction","display_name":"Fatty liver or muscle damage during controlled human choline depletion","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"0ada55f5-ca2a-5d24-8049-618ddc60bbc6","stable_key":"27e0c1cf-7726-5164-8b15-27a631584cd0:choline-pemt-snp-risk-event","event_type":"observed_intervention","label":"This variant marked higher susceptibility in the small study.","description":"Among women, 18 of 23 PEMT rs12325817 C-allele carriers developed organ dysfunction during depletion; reported odds ratio 25, p=0.002.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"8e5f7911-ad0f-5834-aae3-4977ef3cc0be","slug":"pemt-rs12325817-c","display_name":"PEMT rs12325817 C allele in the 2006 depletion study","entity_type_key":"gene"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"57aaf728-3b0f-5dda-b2e4-69ddef823b6b","slug":"human-choline-depletion-organ-dysfunction","display_name":"Fatty liver or muscle damage during controlled human choline depletion","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"nutrient_deficiency","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence_span","value_text":"{\"source_cache\": \"artifacts/choline-research/16816108.abstract.txt\", \"locator\": \"Primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"555f2ace5850ed1fce7061ce91c5133cac7d92c29fdab192b0aa595f9dd390b1\", \"start_char\": 0, \"end_char\": 1424, \"text_sha256\": \"555f2ace5850ed1fce7061ce91c5133cac7d92c29fdab192b0aa595f9dd390b1\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Genotype association within the controlled depletion cohort","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Common PEMT/CHDH/BHMT variants during low-choline feeding","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Small candidate-gene study; does not support deterministic recommendations from one SNP. Shares participants with related depletion publications.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Choline research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"choline","display_name":"Choline","entity_type_key":"small_molecule"}},{"dimension":"organism","value_text":"Human","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"This variant marked higher susceptibility in the small study.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[choline-p16816108] Common genetic polymorphisms affect the human requirement for the nutrient choline. (2006). https://pubmed.ncbi.nlm.nih.gov/16816108/ DOI: 10.1096/fj.06-5734com","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"57 participants; liver and muscle endpoints","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"nutrient_deficiency","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"b00ac8eb-d244-5409-b780-312a0efdca43","evidence_kind":"source_excerpt","locator":"Lines 1036-1047","start_line":1036,"end_line":1047,"excerpt":"### choline-pemt-snp-risk\nAmong women, 18 of 23 PEMT rs12325817 C-allele carriers developed organ dysfunction during depletion; reported odds ratio 25, p=0.002.\nCondition category: nutrient_deficiency\nnutrient_topic: Choline research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: This variant marked higher susceptibility in the small study.\norganism: Human\ntissue_or_cell_type: 57 participants; liver and muscle endpoints\nexperimental_model: Genotype association within the controlled depletion cohort\nlimitations: Small candidate-gene study; does not support deterministic recommendations from one SNP. Shares participants with related depletion publications.\nexposure: Common PEMT/CHDH/BHMT variants during low-choline feeding\nevidence_span: {\"source_cache\": \"artifacts/choline-research/16816108.abstract.txt\", \"locator\": \"Primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"555f2ace5850ed1fce7061ce91c5133cac7d92c29fdab192b0aa595f9dd390b1\", \"start_char\": 0, \"end_char\": 1424, \"text_sha256\": \"555f2ace5850ed1fce7061ce91c5133cac7d92c29fdab192b0aa595f9dd390b1\"}\n[choline-p16816108] Common genetic polymorphisms affect the human requirement for the nutrient choline. (2006). https://pubmed.ncbi.nlm.nih.gov/16816108/ DOI: 10.1096/fj.06-5734com","model_system":"Genotype association within the controlled depletion cohort","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [choline-p16816108] Common genetic polymorphisms affect the human requirement for the nutrient choline. (2006). https://pubmed.ncbi.nlm.nih.gov/16816108/ DOI: 10.1096/fj.06-5734com","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"0ba2f05e-5cf5-5bd7-ae5d-0ab4945fcb7b","stable_key":"import-27e0c1cf-7726-5164-8b15-27a631584cd0","title":"Choline: metabolism, signaling and nutrient connections (2026-09-17)","document_type":"imported_text","citation_label":"AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text.","file_path":"","sha256":"c7afe3d579eba0df6d2a4c26699c653462749e03188348f900c07748cc7282a8","revision_id":"0fa7b48f-2a3c-5adc-b13e-48727dd6f815","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}