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DNA Haplogroups, Autism Spectrum Disorders Linked

JAMA Psychiatry; ePub 2017 Aug 23; Chalkia, et al

Publish date:: September 7, 2017

Since haplogroups I, J, K, O-X, T, and U encompass 55% of the European population, mtDNA lineages must make a significant contribution to overall autism spectrum disorders (ASD) risk, according to a recent study. In this cohort study, individuals with autism and their families were studied using the Autism Genetic Resource Exchange cohort genome-wide association studies data previously generated at the Children’s Hospital of Philadelphia. Researchers found:

Of 1,624 patients with autism included in this study, 1,299 were boys (80%) and 325 were girls (20%).
Relative to the most common European haplogroup HHV, European haplogroups I, J, K, O-X, T, and U were associated with increased risk of ASD, as were Asian and Native American haplogroups A and M, with odds ratios ranging from 1.55 to 2.18.
Hence, mtDNA haplogroup variation is an important risk factor for ASD.

Citation:

Chalkia D, Singh LN, Leipzig J, et al. Association between mitochondrial DNA haplogroup variation and autism spectrum disorders. [Published online ahead of print August 23, 2017]. JAMA Psychiatry. doi:10.1001/jamapsychiatry.2017.2604.

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