Investigation of parent-of-origin effect in comitant strabismus using MOD score analysis

[摘要] Purpose: Comitant strabismus is a commonpediatric ophthalmic disorder with both genetic and non-genetic factorscontributing to its etiology. The aim of the current study is toinvestigate the phenomenon of a parent-of-origin effect, genomicimprinting, as a possible mode of inheritance in comitant strabismus. Methods: We performed parametricgenome-wide MOD score (model-maximized LOD score) linkage analysis,incorporating imprinting effects, for 382 microsatellite markers in asample of 258 individuals (117 males and 141 females) from 55 Japanesefamilies with comitant strabismus. We included individuals as affectedpatients if they presented with comitant esotropia or exotropia basedon ophthalmic examination, history taking, or analysis of medicalrecords. Results: Significant or suggestivelinkage to comitant strabismus with evidence of maternal or paternalimprinting was detected at D4S1575 (4q28.3), D7S486 (7q31.2), D11S1320(11q24.2), D12S324 (12q24.32), and D19S420 (19q13.11). Using the MODscore approach, we found new evidence of linkage to comitant strabismusat three loci on chromosomes 6q26 (MODimp=MODreg=3.75),12q24.32 (MODimp=3.36), and 19q13.11 (MODimp=3.79).Conclusions: The results suggest thatthe parent-of-origin effect may play a role in the etiology of comitantstrabismus.

[学科分类] 生物化学/生物物理