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Two-stage genome-wide linkage scan in keratoconus sib pair families.
Invest Ophthalmol Vis Sci. 2006 Sep; 47(9):3791-5.IO

Abstract

PURPOSE

To identify susceptibility gene loci for keratoconus.

METHODS

A genome-wide linkage analysis was performed with data from 67 keratoconus sib pair families with 110 affected sib pairs of white or Hispanic origin. A total of 351 subjects were genotyped for 380 microsatellite markers along the genome at approximately 10-cM density. An additional 58 microsatellite markers at approximately 2-cM density in the identified linkage regions on chromosomes 4, 5, 9, 12, and 14 were also genotyped. Multipoint linkage analysis was performed in all pedigrees by nonparametric methods and maximum likelihood estimates of identity by descent sharing as implemented in GeneHunter (http://linkage.rockefeller.edu/soft/gh/ provided in the public domain by Rockefeller University, New York, NY).

RESULTS

The strongest evidence of linkage was observed at the telomere (159 cM) of chromosome 9 (lod = 4.5) in all pedigrees. Other regions suggestive of linkage were identified at 176 cM of chromosome 4 (lod = 2.7), 143 cM of chromosome 5 (lod = 2.0), 7 cM of chromosome 9 (lod = 2.8), 12 cM of chromosome 11 (lod = 2.3), 27 cM of chromosome 12 (lod = 2.3), and 14 cM of chromosome 14 (lod = 2.9). Two significant linkage regions were also observed on chromosomes 17 at 86 cM (lod = 3.9) and 9 at 34 cM (lod = 3.8) in the Hispanic subjects only. After fine mapping these regions (with the exception of chromosomes 11 and 17), most linkage peaks remained similar (lod = 2.2 at 176 cM on chromosome 4; lod = 1.7 at 146 cM on chromosome 5; lod = 3.5 at 160 cM on chromosome 9; lod = 2.5 at 7 cM on chromosome 12; and lod = 2.6 at 19 cM on chromosome 14).

CONCLUSIONS

These results indicate that one or more loci may contribute to keratoconus susceptibility.

Authors+Show Affiliations

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.No affiliation info availableNo 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

Language

eng

PubMed ID

16936089

Citation

Li, Xiaohui, et al. "Two-stage Genome-wide Linkage Scan in Keratoconus Sib Pair Families." Investigative Ophthalmology & Visual Science, vol. 47, no. 9, 2006, pp. 3791-5.
Li X, Rabinowitz YS, Tang YG, et al. Two-stage genome-wide linkage scan in keratoconus sib pair families. Invest Ophthalmol Vis Sci. 2006;47(9):3791-5.
Li, X., Rabinowitz, Y. S., Tang, Y. G., Picornell, Y., Taylor, K. D., Hu, M., & Yang, H. (2006). Two-stage genome-wide linkage scan in keratoconus sib pair families. Investigative Ophthalmology & Visual Science, 47(9), 3791-5.
Li X, et al. Two-stage Genome-wide Linkage Scan in Keratoconus Sib Pair Families. Invest Ophthalmol Vis Sci. 2006;47(9):3791-5. PubMed PMID: 16936089.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two-stage genome-wide linkage scan in keratoconus sib pair families. AU - Li,Xiaohui, AU - Rabinowitz,Yaron S, AU - Tang,Yongming G, AU - Picornell,Yoana, AU - Taylor,Kent D, AU - Hu,Mingshu, AU - Yang,Huiying, PY - 2006/8/29/pubmed PY - 2006/10/3/medline PY - 2006/8/29/entrez SP - 3791 EP - 5 JF - Investigative ophthalmology & visual science JO - Invest. Ophthalmol. Vis. Sci. VL - 47 IS - 9 N2 - PURPOSE: To identify susceptibility gene loci for keratoconus. METHODS: A genome-wide linkage analysis was performed with data from 67 keratoconus sib pair families with 110 affected sib pairs of white or Hispanic origin. A total of 351 subjects were genotyped for 380 microsatellite markers along the genome at approximately 10-cM density. An additional 58 microsatellite markers at approximately 2-cM density in the identified linkage regions on chromosomes 4, 5, 9, 12, and 14 were also genotyped. Multipoint linkage analysis was performed in all pedigrees by nonparametric methods and maximum likelihood estimates of identity by descent sharing as implemented in GeneHunter (http://linkage.rockefeller.edu/soft/gh/ provided in the public domain by Rockefeller University, New York, NY). RESULTS: The strongest evidence of linkage was observed at the telomere (159 cM) of chromosome 9 (lod = 4.5) in all pedigrees. Other regions suggestive of linkage were identified at 176 cM of chromosome 4 (lod = 2.7), 143 cM of chromosome 5 (lod = 2.0), 7 cM of chromosome 9 (lod = 2.8), 12 cM of chromosome 11 (lod = 2.3), 27 cM of chromosome 12 (lod = 2.3), and 14 cM of chromosome 14 (lod = 2.9). Two significant linkage regions were also observed on chromosomes 17 at 86 cM (lod = 3.9) and 9 at 34 cM (lod = 3.8) in the Hispanic subjects only. After fine mapping these regions (with the exception of chromosomes 11 and 17), most linkage peaks remained similar (lod = 2.2 at 176 cM on chromosome 4; lod = 1.7 at 146 cM on chromosome 5; lod = 3.5 at 160 cM on chromosome 9; lod = 2.5 at 7 cM on chromosome 12; and lod = 2.6 at 19 cM on chromosome 14). CONCLUSIONS: These results indicate that one or more loci may contribute to keratoconus susceptibility. SN - 0146-0404 UR - https://www.unboundmedicine.com/medline/citation/16936089/Two_stage_genome_wide_linkage_scan_in_keratoconus_sib_pair_families_ L2 - http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.06-0214 DB - PRIME DP - Unbound Medicine ER -