| Title |
Runs of Homozygosity Associated with Speech Delay in Autism in a Taiwanese Han Population: Evidence for the Recessive Model
|
|---|---|
| Published in |
PLOS ONE, August 2013
|
| DOI | 10.1371/journal.pone.0072056 |
| Pubmed ID | |
| Authors |
Ping-I Lin, Po-Hsiu Kuo, Chia-Hsiang Chen, Jer-Yuarn Wu, Susan S-F. Gau, Yu-Yu Wu, Shih-Kai Liu |
| Abstract |
Runs of homozygosity (ROH) may play a role in complex diseases. In the current study, we aimed to test if ROHs are linked to the risk of autism and related language impairment. We analyzed 546,080 SNPs in 315 Han Chinese affected with autism and 1,115 controls. ROH was defined as an extended homozygous haplotype spanning at least 500 kb. Relative extended haplotype homozygosity (REHH) for the trait-associated ROH region was calculated to search for the signature of selection sweeps. Totally, we identified 676 ROH regions. An ROH region on 11q22.3 was significantly associated with speech delay (corrected p = 1.73×10(-8)). This region contains the NPAT and ATM genes associated with ataxia telangiectasia characterized by language impairment; the CUL5 (culin 5) gene in the same region may modulate the neuronal migration process related to language functions. These three genes are highly expressed in the cerebellum. No evidence for recent positive selection was detected on the core haplotypes in this region. The same ROH region was also nominally significantly associated with speech delay in another independent sample (p = 0.037; combinatorial analysis Stouffer's z trend = 0.0005). Taken together, our findings suggest that extended recessive loci on 11q22.3 may play a role in language impairment in autism. More research is warranted to investigate if these genes influence speech pathology by perturbing cerebellar functions. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 72 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Taiwan | 1 | 1% |
| Unknown | 71 | 99% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 13 | 18% |
| Student > Doctoral Student | 10 | 14% |
| Student > Master | 7 | 10% |
| Student > Bachelor | 6 | 8% |
| Researcher | 6 | 8% |
| Other | 14 | 19% |
| Unknown | 16 | 22% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 16 | 22% |
| Biochemistry, Genetics and Molecular Biology | 9 | 13% |
| Psychology | 8 | 11% |
| Agricultural and Biological Sciences | 5 | 7% |
| Social Sciences | 3 | 4% |
| Other | 12 | 17% |
| Unknown | 19 | 26% |