Evidence map›Paper›PMID 21691774›Full record

ArticleHuman genetics2011

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

Jessica Ross, Judith Badner, Helena Garrido, Brooke Sheppard, Denise A Chavira, Marco Grados, Jonathan M Woo, Pamela Doo, Paula Umaña, Eduardo Fournier and 2 more

Abstract read
In one paragraph

Article in Human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 2 pooled it
7.4field-weighted citation impact, top 3% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 45 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Rare protein-disrupting variants inmedRxiv : the preprint server for health sciences · 2026
    Article
  4. Neurocognitive Endophenotypes of OCD.Current topics in behavioral neurosciences · 2021
    Article
  5. Nordic OCD & Related Disorders Consortium: Rationale, design, and methods.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2020
    Article
  6. Article
  7. Neuropsychological and dimensional behavioral trait profiles in Costa Rican ADHD sib pairs: Potential intermediate phenotypes for genetic studies.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2015
    Article
  8. The neurobiological link between OCD and ADHD.Attention deficit and hyperactivity disorders · 2014
    Review
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 6 institutions in 2 countries.

Jessica RossDepartment of Psychiatry, University of California, San Francisco, 401 Parnassus Avenue, San Francisco, CA 94143-0984, USA.
Judith Badner
Helena Garrido
Brooke Sheppard
Denise A Chavira
Marco Grados
Jonathan M Woo
Pamela Doo
Paula Umaña
Eduardo Fournier
Sarah Shaw Murray
Carol A Mathews
University of California, San Francisco · USHospital Nacional de Niños · CRJohns Hopkins University · USScripps Health · USUniversity of California, San Diego · USUniversity of Chicago · US

Funding

MENTORED PATIENT-ORIENTED RESEARCH CAREER DEVELOPMENT AWK23RR015533 · NCRR · UNIVERSITY OF CALIFORNIA SAN FRANCISCO · PI MATHEWS, CAROL A. · 2000 to 2004
$608k
NCRR NIH HHS K23 RR015533
6 · The paper itself

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.

Indexed as

Chromosomes, Human, Pair 15Genetic LinkageAge of OnsetChromosome MappingCosta RicaFamily HealthFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHaplotypesHumansLod ScoreMaleObsessive-Compulsive DisorderPedigreeRyanodine Receptor Calcium Release Channel

Identifiers

PMID21691774
PMCPMC4442699
OpenAlexW1966911219

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.