NDLI: Genomewide linkage analysis in Costa Rican families implicates chromosome 15q14 as a candidate region for OCD

Content Provider	Springer Nature Link
Author	Ross, Jessica Badner, Judith Garrido, Helena Sheppard, Brooke Chavira, Denise A. Grados, Marco Woo, Jonathan M. Doo, Pamela Umaña, Paula Fournier, Eduardo Murray, Sarah Shaw Mathews, Carol A.
Copyright Year	2011
Abstract	Obsessive compulsive disorder (OCD) has a complex etiology that encompasses both genetic and environmental factors. However, to date, despite the identification of several promising candidate genes and linkage regions, the genetic causes of OCD are largely unknown. The objective of this study was to conduct linkage studies of childhood-onset OCD, which is thought to have the strongest genetic etiology, in several OCD-affected families from the genetically isolated population of the Central Valley of Costa Rica (CVCR). The authors used parametric and non-parametric approaches to conduct genome-wide linkage analyses using 5,786 single nucleotide repeat polymorphisms (SNPs) in three CVCR families with multiple childhood-onset OCD-affected individuals. We identified areas of suggestive linkage (LOD score ≥2) on chromosomes 1p21, 15q14, 16q24, and 17p12. The strongest evidence for linkage was on chromosome 15q14 (LOD = 3.13), identified using parametric linkage analysis with a recessive model, and overlapping a region identified in a prior linkage study using a Caucasian population. Each CVCR family had a haplotype that co-segregated with OCD across a ~7 Mbp interval within this region, which contains 18 identified brain expressed genes, several of which are potentially relevant to OCD. Exonic sequencing of the strongest candidate gene in this region, the ryanodine receptor 3 (RYR3), identified several genetic variants of potential interest, although none co-segregated with OCD in all three families. These findings provide evidence that chromosome 15q14 is linked to OCD in families from the CVCR, and supports previous findings to suggest that this region may contain one or more OCD susceptibility loci.
Starting Page	795
Ending Page	805
Page Count	11
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	130
Issue Number	6
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2011-06-21
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Metabolic Diseases Human Genetics Molecular Medicine Gene Function
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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