Combined analysis of data on chromosome 7q from three autism genome scans

Several different genome-wide scans for autism have produced signals on chromosome 7q, spanning an aggregate region 68 cM wide. Three studies, CLSA (n=75), Mt. Sinai (n=89), and Duke (n=79), agreed to reanalyze their ASP data by estimating % sharing and associated MLS statistics at 1 cM intervals across this region. CLSA and Mt. Sinai each observed two peaks at approximately the same locations. CLSA's larger peak MLS (1.45) and Mt. Sinai's smaller peak (1.03) occurred at 100 cM, and 107 cM, respectively. Mt. Sinai's larger peak (1.23) and CLSA's smaller peak (0.88) occurred at 155cM and 150 cM, respectively. Duke observed a single peak MLS of 2.52 at 129 cM. Recent work [Vieland et al., Huang & Vieland, in press] has shown that for ASP data, summing maximum MLS statistics across studies may represent a better approximation to the correct overall maximum LOD score than averaging across studies. MLS statistics calculated at 1 cM intervals were summed across the three studies. The resulting summed MLS curve showed a tri-modal distribution, with peaks of 2.52 at 103 cM, 2.64 at 129 cM, and 2.38 at 150 cM, close to the peak (2.5 at 145 cM) reported by the IMGSAC [1998].

Duke Scholars

Author Allison Elizabeth Ashley-Koch Medicine, Nephrology