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Confirmation of linkage of Sjogren-Larsson syndrome to chromosome 17 in families of different ethnic origins.

ABSTRACT: Linkage analysis in two consanguineous pedigrees of Pakistani and English origin and one further Indian family in which affected subjects have Sjögren-Larsson syndrome (SLS) showed linkage to chromosome 17. Linkage of SLS to D17S783 and D17S805 has been reported in Swedish pedigrees, but since those data were generated from a single ethnic group originating from a common ancestor, there remained the question of whether this disease is genetically heterogeneous. This report confirms the linkage in non-Swedish pedigrees and, therefore, provides evidence to support a single locus for SLS.

SUBMITTER: Lacour M

PROVIDER: S-EPMC1051883 | biostudies-other | 1996 Mar

REPOSITORIES: biostudies-other

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Confirmation of linkage of Sjögren-Larsson syndrome to chromosome 17 in families of different ethnic origins.

Lacour M M Middleton-Price H R HR Harper J I JI

Journal of medical genetics 19960301 3

Linkage analysis in two consanguineous pedigrees of Pakistani and English origin and one further Indian family in which affected subjects have Sjögren-Larsson syndrome (SLS) showed linkage to chromosome 17. Linkage of SLS to D17S783 and D17S805 has been reported in Swedish pedigrees, but since those data were generated from a single ethnic group originating from a common ancestor, there remained the question of whether this disease is genetically heterogeneous. This report confirms the linkage i ...[more]

PMID: 8728707

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Project description:PurposeMyopia is a common visual disorder caused by eye overgrowth, resulting in blurry vision. It affects one in four Americans, and its prevalence is increasing. The genetic mechanisms that underpin myopia are not completely understood. Here, we use genotype data and linkage analyses to identify high-risk genetic loci that are significantly linked to myopia.MethodsIndividuals from 56 Caucasian families with a history of myopia were genotyped on an exome-based array, and the single nucleotide polymorphism (SNP) data were merged with microsatellite genotype data. Refractive error measures on the samples were converted into binary phenotypes consisting of affected, unaffected, or unknown myopia status. Parametric linkage analyses assuming an autosomal dominant model with 90% penetrance and 10% phenocopy rate were performed.ResultsSingle variant two-point analyses yielded three significantly linked SNPs at 11p14.1 and 11p11.2; a further 45 SNPs at 11p were found to be suggestive. No other chromosome had any significant SNPs or more than seven suggestive linkages. Two of the significant SNPs were located in BBOX1-AS1 and one in the intergenic region between ORA47 and TRIM49B. Collapsed haplotype pattern two-point analysis and multipoint analyses also yielded multiple suggestively linked genes at 11p. Multipoint analysis also identified suggestive evidence of linkage on 20q13.ConclusionsWe identified three genome-wide significant linked variants on 11p for myopia in Caucasians. Although the novel specific signals still need to be replicated, 11p is a promising region that has been identified by other linkage studies with a number of potentially interesting candidate genes. We hope that the identification of these regions on 11p as potential causal regions for myopia will lead to more focus on these regions and maybe possible replication of our specific linkage peaks in other studies. We further plan targeted sequencing on 11p for our most highly linked families to more clearly understand the source of the linkage in this region.

Dataset Information

Confirmation of linkage of Sjogren-Larsson syndrome to chromosome 17 in families of different ethnic origins.

Publications

Confirmation of linkage of Sjögren-Larsson syndrome to chromosome 17 in families of different ethnic origins.

Similar Datasets

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