203280 Autism genetic meta-analysis: Chromosomes 2, 7, and 15

Tuesday, November 10, 2009: 12:50 PM

Christopher P. Tuohy, MPH , Department of Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School, Newark, NJ
Michael Brimacombe, PhD , Department of Preventive Medicine and Community Health, UMDNJ - New Jersey Medical School & School of Public Health, Newark, NJ
The search for the cause of autism spectrum disorders (ASD) has lead to much investigation into genetic associations. Studies have typically examined relatively small sample sizes across various sets of genes thought to be associated with ASD. The heterogeneity implicit in ASD typically complicates the search.

A meta-analysis was conducted on genetic linkage studies (LOD scores) in ASD for the years 20002006 on chromosomes 2, 7, and 15. LOD scores were examined to develop an overall meta-analysis of linkages across regions of the selected chromosomes. Results for chromosome 2 show the greatest evidence for a possible linkage to autism. 14% had LOD scores > 1.5, and 6.6% > 2.0. Many of the results were from similar regions on chromosome 2, five within the 240 270 centimorgan region and four within 173 186. Two markers, D2S1397 and D2S2188, exceeded an LOD score of 3.0, the generally accepted threshold to indicate genetic linkage, with LOD scores of 4.03 and 3.74 respectively. Results for chromosome 7 had a high percentage of LOD scores > 1.5 and > 2.0, 19.15% and 14.9% respectively. Two pairs of significant markers came from similar regions; 104 109 centimorgans and 152 165. Markers D7S477 and D7S2195 had LOD scores of 3.2 and 1.65 respectively. Chromosome 15 showed the least evidence for linkage to autism with no LOD scores > 1.5.

While a genetic basis of ASD is accepted, identifying specific genes are chromosome regions remains a challenge.

Learning Objectives:
1. Discuss the reasons why there is believed to be genetic linkage in Autism Spectrum Disorders (ASD). 2. Explain results from current studies analyzing genetic linkage in ASD. 3. Compare genetic linkage results for ASD for chromosomes 2, 7, and 15.

Presenting author's disclosure statement:

Qualified on the content I am responsible for because: This abstract represents my student project related to my Master in Public Health program. I executed all work related to this project with the guidance of my faculty advisor who is also listed as an author.
Any relevant financial relationships? No

I agree to comply with the American Public Health Association Conflict of Interest and Commercial Support Guidelines, and to disclose to the participants any off-label or experimental uses of a commercial product or service discussed in my presentation.