GLORIA

GEOMAR Library Ocean Research Information Access

X

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
Filter
  • S. Karger AG  (3)
  • 1
    Online Resource
    Online Resource
    Incorporating Covariates into Multipoint Association Mapping in the Case-Parent Design
    S. Karger AG ; 2010
    In:  Human Heredity Vol. 69, No. 4 ( 2010), p. 229-241
    Details
    In: Human Heredity, S. Karger AG, Vol. 69, No. 4 ( 2010), p. 229-241
    Abstract: 〈 i 〉 Background/Aims: 〈 /i 〉 To improve the efficiency of disease locus localization in association mapping using case-parent designs and to assess or account for the main covariate effects and gene-covariate interaction effects, while localizing the disease locus. 〈 i 〉 Methods: 〈 /i 〉 The present study extends a multipoint fine-mapping approach to incorporate covariates into the association mapping of case-parent designs through parametric and non-parametric modeling. This approach is based on the expected preferential-allele-transmission statistics for transmission from either parent to an affected child. 〈 i 〉 Results: 〈 /i 〉 Simulation studies indicate that the efficiency in estimating the disease locus increases considerably when incorporating a covariate associated with the disease. This is especially true when the genetic effect of the disease locus is small. The proposed approach was applied to a young-onset hypertension data sample. The relative efficiency of estimating the locus of young-onset hypertension increases 110-fold after incorporating triglyceride into the association mapping while localizing the disease variant in the lipoprotein lipase gene in the non-parametric model. By incorporating the information of SNP variants into the fine-mapping, the proposed method further assesses the gene-gene interactions between the SNP and the disease locus. 〈 i 〉 Conclusion: 〈 /i 〉 With the incorporation of covariates, the proposed method cannot only improve efficiency in estimating disease loci, but can also elucidate the etiology of a complex disease.
    Type of Medium: Online Resource
    ISSN: 0001-5652 , 1423-0062
    URL: Article
    DOI: 10.1159/000291986
    RVK:
    WA 15000
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2010
    detail.hit.zdb_id: 1482710-4
    SSG: 12
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 2
    Online Resource
    Online Resource
    Social and Communication Difficulties and Obsessive-Compulsive Disorder
    S. Karger AG ; 2008
    In:  Psychopathology Vol. 41, No. 3 ( 2008), p. 194-200
    Details
    In: Psychopathology, S. Karger AG, Vol. 41, No. 3 ( 2008), p. 194-200
    Abstract: 〈 i 〉 Background: 〈 /i 〉 The relationship between pervasive developmental disorder (PDD) and obsessive-compulsive disorder (OCD) has not been extensively studied despite having some phenomenological features in common. Abnormal social and communication behaviors (pragmatic behaviors) are key components of PDD and are also part of the broader autism phenotype (BAP). In this study we sought to establish if there is any association between the presence of abnormal pragmatic behaviors and OCD and whether this association delineates a familial subtype of OCD. 〈 i 〉 Sampling and Methods: 〈 /i 〉 As part of the Johns Hopkins OCD Family Study, 80 OCD case probands were recruited and matched with 73 control probands. Probands and their first-degree relatives were interviewed using the Schedule for Affective Disorders and Schizophrenia-Lifetime Anxiety and other diagnostic instruments. A Pragmatic Rating Scale (PRS) to assess pragmatic behaviors was completed by the examiner. 〈 i 〉 Results: 〈 /i 〉 The PRS was completed on 395 subjects, of which 3% (n = 11) achieved a score of greater than 6. The prevalence of high PRS scores was significantly greater amongst case probands and relatives (5%) compared to control probands and relatives (0.5%, p = 0.011). In case relatives the prevalence of OCD was significantly higher in those relatives who had a family member with a high PRS score (p 〈 0.001). 〈 i 〉 Conclusions: 〈 /i 〉 The presence of social and communication difficulties in members of OCD case families appears to identify a familial subtype of OCD that may be related to PDD and/or BAP. This study was limited to using the PRS to identify pragmatic behaviors in subjects with OCD.
    Type of Medium: Online Resource
    ISSN: 0254-4962 , 1423-033X
    URL: Article
    DOI: 10.1159/000120988
    RVK:
    XA 10000
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2008
    detail.hit.zdb_id: 1483565-4
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 3
    Online Resource
    Online Resource
    A Robust Identity-by-Descent Procedure Using Affected Sib Pairs: Multipoint Mapping for Complex Diseases
    S. Karger AG ; 2001
    In:  Human Heredity Vol. 51, No. 1-2 ( 2001), p. 64-78
    Details
    In: Human Heredity, S. Karger AG, Vol. 51, No. 1-2 ( 2001), p. 64-78
    Abstract: Multipoint linkage analysis is a powerful tool to localize susceptibility genes for complex diseases. However, the conventional lod score method relies critically on the correct specification of mode of inheritance for accurate estimation of gene position. On the other hand, allele-sharing methods, as currently practiced, are designed to test the null hypothesis of no linkage rather than estimate the location of the susceptibility gene(s). In this paper, we propose an identity-by-descent (IBD)-based procedure to estimate the location of an unobserved susceptibility gene within a chromosomal region framed by multiple markers. Here we deal with the practical situation where some of the markers might not be fully informative. Rather the IBD statistic at an arbitrary within the region is imputed using the multipoint marker information. The method is robust in that no assumption about the genetic mechanism is required other than that the region contains no more than one susceptibility gene. In particular, this approach builds upon a simple representation for the expected IBD at any arbitrary locus within the region using data from affected sib pairs. With this representation, one can carry out a parametric inference procedure to locate an unobserved susceptibility gene. In addition, here we derive a sample size formula for the number of affected sib pairs needed to detect linkage with multiple markers. Throughout, the proposed method is illustrated through simulated data. We have implemented this method including exploratory and formal model-fitting procedures to locate susceptibility genes, plus sample size and power calculations in a program, GENEFINDER, which will be made available shortly.
    Type of Medium: Online Resource
    ISSN: 0001-5652 , 1423-0062
    URL: Article
    DOI: 10.1159/000022961
    RVK:
    WA 15000
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2001
    detail.hit.zdb_id: 1482710-4
    SSG: 12
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...