PMC:4564992 / 26941-28624 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4564992","sourcedb":"PMC","sourceid":"4564992","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4564992","text":"Application to Tetralogy of Fallot Data\nTetralogy of Fallot (TOF) is the most common form of congenital heart disease, a major source of morbidity and mortality in childhood. In a recent GWAS using a European discovery set of 835 case subjects, 717 additional family members (including both parents for 293 of the case subjects), and 5,159 control subjects, Cordell et al.35 found regions on chromosomes 12 and 13 to be significantly and replicably associated with TOF. Although not reported by Cordell et al.,35 further modeling of the replicating regions via EMIM indicated that the top result on chromosome 12 (at rs11065987) could be equally well modeled by a paternally inherited imprinting effect (Ip, p value = 2.10 × 10−8) as by an allelic effect of a child’s own genotype (p value = 4.06 × 10−8). Also, the top result on chromosome 13 (at rs7982677) could potentially be equally well modeled by a maternally inherited imprinting effect (Im, p value = 9.54 × 10−7) as by an allelic effect of a child’s own genotype (p value 6.41 × 10−7), although there wasn’t sufficient power in either case to distinguish between imprinting and child-genotype effects. Evidence for a maternally inherited imprinting effect on chromosome 12 or a paternally inherited imprinting effect on chromosome 13 was less well supported (Im, p value = 9.04 × 10−5 at rs11065987; Ip, p value 0.00022 at rs7982677). Here, we investigate these findings further by using our updated version of PREMIM and EMIM, which uses SHAPEIT2 to estimate the parent-of-origin of alleles, to test for paternally inherited imprinting effects on chromosome 12 and maternally inherited imprinting effects on chromosome 13.","divisions":[{"label":"title","span":{"begin":0,"end":39}}],"tracks":[{"project":"2_test","denotations":[{"id":"26320892-23297363-2052540","span":{"begin":372,"end":374},"obj":"23297363"},{"id":"26320892-23297363-2052541","span":{"begin":510,"end":512},"obj":"23297363"}],"attributes":[{"subj":"26320892-23297363-2052540","pred":"source","obj":"2_test"},{"subj":"26320892-23297363-2052541","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#ecdb93","default":true}]}]}}