Sequencing AIP in 460 pituitary adenoma patients and patients from families with MEN1 features (but not MEN1 mutations). This was seen in one of 122 pituitary adenoma patients from Poland.
The authors also note seeing this variant in an Italian patient with acromegaly — this is noted as unpublished data, and the total number of patients screened is not mentioned. The authors also state the variant was not seen in healthy controls. Controls are elsewhere described as 110 Caucasian from CEPH, 288 UK Caucasians, 209 Finns, 90 Germans, and 52 Italians (749 total European control individuals).
For case/control significance evaluation, we consider all patients screened by this paper as part of cases. case+: 1, case-: 459, control+: 0, control-: 749. There is no statistically significant enrichment of the variant in cases.