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. 2010 Oct;15(10):1006-15.
doi: 10.1038/mp.2009.42. Epub 2009 May 19.

Genome-wide linkage in Utah autism pedigrees

K Allen-Brady  1 , R Robison, D Cannon, T Varvil, M Villalobos, C Pingree, M F Leppert, J Miller, W M McMahon, H Coon
Affiliations

Genome-wide linkage in Utah autism pedigrees

K Allen-Brady et al. Mol Psychiatry. 2010 Oct.

Abstract

Genetic studies of autism over the past decade suggest a complex landscape of multiple genes. In the face of this heterogeneity, studies that include large extended pedigrees may offer valuable insights, as the relatively few susceptibility genes within single large families may be more easily discerned. This genome-wide screen of 70 families includes 20 large extended pedigrees of 6-9 generations, 6 moderate-sized families of 4-5 generations and 44 smaller families of 2-3 generations. The Center for Inherited Disease Research (CIDR) provided genotyping using the Illumina Linkage Panel 12, a 6K single-nucleotide polymorphism (SNP) platform. Results from 192 subjects with an autism spectrum disorder (ASD) and 461 of their relatives revealed genome-wide significance on chromosome 15q, with three possibly distinct peaks: 15q13.1-q14 (heterogeneity LOD (HLOD)=4.09 at 29 459 872 bp); 15q14-q21.1 (HLOD=3.59 at 36 837 208 bp); and 15q21.1-q22.2 (HLOD=5.31 at 55 629 733 bp). Two of these peaks replicate earlier findings. There were additional suggestive results on chromosomes 2p25.3-p24.1 (HLOD=1.87), 7q31.31-q32.3 (HLOD=1.97) and 13q12.11-q12.3 (HLOD=1.93). Affected subjects in families supporting the linkage peaks found in this study did not reveal strong evidence for distinct phenotypic subgroups.

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Figures

Figure 1
Figure 1
Genome-wide linkage results using all SNPs before screening for possible inflation due to linkage disequilibrium.

  1. recessive model

  2. dominant model

  3. non-parametric analysis

Figure 2
Figure 2
Detailed results of SNPs screened for linkage disequilibrium for chromosomes.

  1. chromosome 15, significant results

  2. chromosome 2, suggestive results

  3. chromosome 7, suggestive results

  4. chromosome 13, suggestive results

See this image and copyright information in PMC

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