PMC:4564992 / 35269-36965 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":"Although case-mother duos are a more commonly used unit than case-father duos, in real studies, both types of duos might be collected. In Figure S4, it can be seen that, somewhat counter-intuitively, when performing a test of the parameter Im in the presence of genuine maternally inherited imprinting effects, more power is gained from a sample of case-father duos than from a sample of case-mother duos. (Both types of duos provide less power than case-parent trios.) This is true whether or not haplotype estimation with SHAPEIT2 is performed. This observation can be explained by the observation that, to detect maternally inherited imprinting effects, we are only interested in determining whether or not the child inherited a risk allele from the mother. The expected proportion of case-mother duos in which the parent of origin can be determined unambiguously can be calculated from column five of Table 3 of Ainsworth et al.;20 a similar calculation can be performed for case-father duos. Performing this calculation, we find that, provided the allele frequency of the maternally transmitted allele that increases disease risk is \u003c 0.5 (i.e., the “risk” allele is the minor allele), a higher proportion of case-father duos than case-mother duos allows unambiguous determination of the parent of origin (data not shown). If the major allele is the risk allele, this is reversed, and it is the case-mother duos that provide the greater power. Similarly, for a paternally inherited imprinting effect, provided the risk allele is the minor allele, it is the case-mother duos that provide the higher power; if instead the risk allele is the major allele, case-father duos provide higher power.","tracks":[{"project":"2_test","denotations":[{"id":"26320892-21181895-2052547","span":{"begin":933,"end":935},"obj":"21181895"}],"attributes":[{"subj":"26320892-21181895-2052547","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#de93ec","default":true}]}]}}