| http://purl.uniprot.org/citations/36786389 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/36786389 | http://www.w3.org/2000/01/rdf-schema#comment | "Phaeochromocytoma and paraganglioma are highly heritable tumours; half of those associated with a germline mutation are caused by mutations in genes for Krebs's cycle enzymes, including succinate dehydrogenase (SDH). Inheritance of SDH alleles is assumed to be Mendelian (probability of 50% from each parent). The departure from transmission of parental alleles in a ratio of 1:1 is termed transmission ratio distortion (TRD). We sought to assess whether TRD occurs in the transmission of SDHB pathogenic variants (PVs). This study was conducted with 41 families of a discovery cohort from Royal North Shore Hospital, Australia, and 41 families from a validation cohort from St. Bartholomew's Hospital, United Kingdom (UK). Inclusion criteria were a clinically diagnosed SDHB PV and a pedigree available for at least two generations. TRD was assessed in 575 participants with the exact binomial test. The transmission ratio for SDHB PV was 0.59 (P = 0.005) in the discovery cohort, 0.67 (P < 0.001) in the validation cohort, and 0.63 (P < 0.001) in the combined cohort. No parent-of-origin effect was observed. TRD remained significant after adjusting for potential confounders: 0.67 (P < 0.001) excluding families with incomplete family size data; 0.58 (P < 0.001) when probands were excluded. TRD was also evident for SDHD PVs in a cohort of 81 patients from 13 families from the UK. The reason for TRD of SDHB and SDHD PVs is unknown, but we hypothesize a survival advantage selected during early embryogenesis. The existence of TRD for SDHB and SDHD has implications for reproductive counselling, and further research into the heterozygote state."xsd:string |
| http://purl.uniprot.org/citations/36786389 | http://purl.org/dc/terms/identifier | "doi:10.1530/erc-22-0233"xsd:string |
| http://purl.uniprot.org/citations/36786389 | http://purl.uniprot.org/core/author | "Lim E.S."xsd:string |
| http://purl.uniprot.org/citations/36786389 | http://purl.uniprot.org/core/author | "Clifton-Bligh R.J."xsd:string |
| http://purl.uniprot.org/citations/36786389 | http://purl.uniprot.org/core/author | "Benn D.E."xsd:string |
| http://purl.uniprot.org/citations/36786389 | http://purl.uniprot.org/core/author | "Akker S.A."xsd:string |
| http://purl.uniprot.org/citations/36786389 | http://purl.uniprot.org/core/author | "Burgess J.R."xsd:string |
| http://purl.uniprot.org/citations/36786389 | http://purl.uniprot.org/core/author | "Subramaniam Y."xsd:string |
| http://purl.uniprot.org/citations/36786389 | http://purl.uniprot.org/core/author | "Davidoff D.F."xsd:string |
| http://purl.uniprot.org/citations/36786389 | http://purl.uniprot.org/core/author | "Dorman E."xsd:string |
| http://purl.uniprot.org/citations/36786389 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/36786389 | http://purl.uniprot.org/core/name | "Endocr Relat Cancer"xsd:string |
| http://purl.uniprot.org/citations/36786389 | http://purl.uniprot.org/core/pages | "e220233"xsd:string |
| http://purl.uniprot.org/citations/36786389 | http://purl.uniprot.org/core/title | "Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring."xsd:string |
| http://purl.uniprot.org/citations/36786389 | http://purl.uniprot.org/core/volume | "30"xsd:string |
| http://purl.uniprot.org/citations/36786389 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/36786389 |
| http://purl.uniprot.org/citations/36786389 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/36786389 |
| http://purl.uniprot.org/uniprot/#_A0A087WXX8-mappedCitation-36786389 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/36786389 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z4H7-mappedCitation-36786389 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/36786389 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z4J3-mappedCitation-36786389 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/36786389 |
| http://purl.uniprot.org/uniprot/#_G3V173-mappedCitation-36786389 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/36786389 |
| http://purl.uniprot.org/uniprot/#_Q70SX8-mappedCitation-36786389 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/36786389 |
| http://purl.uniprot.org/uniprot/#_O14521-mappedCitation-36786389 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/36786389 |
| http://purl.uniprot.org/uniprot/#_P21912-mappedCitation-36786389 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/36786389 |