Tags

Type your tag names separated by a space and hit enter

A discordant sib-pair linkage analysis of age-related macular degeneration.
Ophthalmic Genet. 2005 Jun; 26(2):61-7.OG

Abstract

BACKGROUND

Age-related macular degeneration (AMD) is the leading cause of visual impairment and blindness among older adults in the United States and throughout the developed world. Etiological research implicates both genetic and environmental components. Our prior genome scan in 511 affected sib-pairs and other relative pairs identified significant or suggestive linkage signals on chromosomes 1, 2, 3, 6, 8, 10, 12, 16, and 22.

PURPOSE

To search for genetic loci for AMD using the extremely discordant sib-pair (EDSP) method of linkage analysis, which until now has never been applied to the study of AMD.

METHODS

The EDSP method is a more powerful approach than standard methods which rely on relative pairs selected at random or pairs concordant for the phenotype. The EDSP approach has also been characterized as the only design that is uniformly powerful in nearly all genetic situations. Thus, substantial reductions in sample size can be achieved.

STUDY POPULATION

The study sample for analysis included 110 EDSPs from 40 families that comprise a subset of the 158 families studied in a prior genome-wide scan using affected relative pairs.

RESULTS

Evidence for linkage was found on chromosomes 1q, 2q, 6q, 19p, and 20q. The regions identified on chromosomes 1q and 2q were the same regions identified in our prior analysis, whereas the identified region on 6q was approximately 80 cM distal to our previous signal.

DISCUSSION

Within this study population, we have narrowed the focus to chromosomes 1q, 2q, 6q, 19p, and 20q in our search for AMD loci. However, given the fact that a gene was recently identified on chromosome 1q, future family- and population-based analyses should concentrate on testing for associations with candidate gene variants in the other identified chromosomal regions in searches for additional AMD loci.

Authors+Show Affiliations

Psychiatric & Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, 149 13th Street, Charlestown, MA, USA. ssantang@psych.mgh.harvard.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

16020308

Citation

Santangelo, Susan L., et al. "A Discordant Sib-pair Linkage Analysis of Age-related Macular Degeneration." Ophthalmic Genetics, vol. 26, no. 2, 2005, pp. 61-7.
Santangelo SL, Yen CH, Haddad S, et al. A discordant sib-pair linkage analysis of age-related macular degeneration. Ophthalmic Genet. 2005;26(2):61-7.
Santangelo, S. L., Yen, C. H., Haddad, S., Fagerness, J., Huang, C., & Seddon, J. M. (2005). A discordant sib-pair linkage analysis of age-related macular degeneration. Ophthalmic Genetics, 26(2), 61-7.
Santangelo SL, et al. A Discordant Sib-pair Linkage Analysis of Age-related Macular Degeneration. Ophthalmic Genet. 2005;26(2):61-7. PubMed PMID: 16020308.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A discordant sib-pair linkage analysis of age-related macular degeneration. AU - Santangelo,Susan L, AU - Yen,Chen-Hsing, AU - Haddad,Stephen, AU - Fagerness,Jesen, AU - Huang,Christine, AU - Seddon,Johanna M, PY - 2005/7/16/pubmed PY - 2005/9/16/medline PY - 2005/7/16/entrez SP - 61 EP - 7 JF - Ophthalmic genetics JO - Ophthalmic Genet. VL - 26 IS - 2 N2 - BACKGROUND: Age-related macular degeneration (AMD) is the leading cause of visual impairment and blindness among older adults in the United States and throughout the developed world. Etiological research implicates both genetic and environmental components. Our prior genome scan in 511 affected sib-pairs and other relative pairs identified significant or suggestive linkage signals on chromosomes 1, 2, 3, 6, 8, 10, 12, 16, and 22. PURPOSE: To search for genetic loci for AMD using the extremely discordant sib-pair (EDSP) method of linkage analysis, which until now has never been applied to the study of AMD. METHODS: The EDSP method is a more powerful approach than standard methods which rely on relative pairs selected at random or pairs concordant for the phenotype. The EDSP approach has also been characterized as the only design that is uniformly powerful in nearly all genetic situations. Thus, substantial reductions in sample size can be achieved. STUDY POPULATION: The study sample for analysis included 110 EDSPs from 40 families that comprise a subset of the 158 families studied in a prior genome-wide scan using affected relative pairs. RESULTS: Evidence for linkage was found on chromosomes 1q, 2q, 6q, 19p, and 20q. The regions identified on chromosomes 1q and 2q were the same regions identified in our prior analysis, whereas the identified region on 6q was approximately 80 cM distal to our previous signal. DISCUSSION: Within this study population, we have narrowed the focus to chromosomes 1q, 2q, 6q, 19p, and 20q in our search for AMD loci. However, given the fact that a gene was recently identified on chromosome 1q, future family- and population-based analyses should concentrate on testing for associations with candidate gene variants in the other identified chromosomal regions in searches for additional AMD loci. SN - 1381-6810 UR - https://www.unboundmedicine.com/medline/citation/16020308/A_discordant_sib_pair_linkage_analysis_of_age_related_macular_degeneration_ L2 - http://www.tandfonline.com/doi/full/10.1080/13816810490967944 DB - PRIME DP - Unbound Medicine ER -