Werling, Anna Maria and Bobrowski, Elise and Taurines, Regina and Gundelfinger, Ronnie and Romanos, Marcel and Gruenblatt, Edna and Walitza, Susanne (2016) CNTNAP2 gene in high functioning autism: no association according to family and meta-analysis approaches. JOURNAL OF NEURAL TRANSMISSION, 123 (3). pp. 353-363. ISSN 0300-9564, 1435-1463
Full text not available from this repository. (Request a copy)Abstract
The Contactin Associated Protein-like 2 (CNTNAP2) gene has been discussed to be associated with different symptoms of autism spectrum disorders (ASDs) and other neurodevelopmental disorders. We aimed to elucidate the genetic association of CNTNAP2 within high functioning ASD (HFA), focusing on autism specific symptoms and reducing intelligence related factors. Furthermore, we compared our findings conducting a metaanalysis in patients with ASD and HFA only. A casecontrol association study was performed for HFA (HFA, n = 105; controls, n = 133). Moreover, we performed a family-based association study (DFAM) analysis (HFA, n = 44; siblings, n = 57). Individuals were genotyped for the two most frequently reported single nucleotide polymorphisms (SNPs) in the CNTNAP2 gene (rs2710102, rs7794745). Furthermore, a meta-analysis using the MIX2 software integrated our results with previously published data. A significant association for the carriers of the T-allele of the rs7794745 with HFA was found in the casecontrol sample [OR = 1.547; (95 % CI 1.056-2.266); p = 0.025]. No association could be found by DFAM with any of the CNTNAP2 SNPs with HFA. The meta-analysis of both SNPs did not show a significant association with either ASD or with HFA. Overall, including case-control, sibs, and meta-analysis, we could not detect any significant association with the CNTNAP2 gene and HFA. Our results point in the direction that CNTNAP2 may not play a major role in HFA, but rather seems to have a significance in neurodevelopmental disorders or in individuals displaying intellectual delays.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | SPECTRUM DISORDER; COMMON; GENOME; LINKAGE; RISK; POPULATION; VARIANTS; EPILEPSY; ETIOLOGY; NEUREXIN; High functioning autism; CNTNAP2; Polymorphism; Meta-analysis |
| Subjects: | 100 Philosophy & psychology > 150 Psychology |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 11 Mar 2019 13:00 |
| Last Modified: | 11 Mar 2019 13:00 |
| URI: | https://pred.uni-regensburg.de/id/eprint/2299 |
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