Linkage analysis of quantitative refraction and refractive errors in the beaver dam eye study

Alison Klein, Priya Duggal, Kristine E. Lee, Ching Yu Cheng, Ronald Klein, Joan E. Bailey-Wilson, Barbara E K Klein

Research output: Contribution to journalArticle

Abstract

Purpose. Refraction, as measured by spherical equivalent, is the need for an external lens to focus images on the retina. While genetic factors play an important role in the development of refractive errors, few susceptibility genes have been identified. However, several regions of linkage have been reported for myopia (2q, 4q, 7q, 12q, 17q, 18p, 22q, and Xq) and for quantitative refraction (1p, 3q, 4q, 7p, 8p, and 11p). To replicate previously identified linkage peaks and to identify novel loci that influence quantitative refraction and refractive errors, linkage analysis of spherical equivalent, myopia, and hyperopia in the Beaver Dam Eye Study was performed. Methods. Nonparametric, sibling-pair, genome-wide linkage analyses of refraction (spherical equivalent adjusted for age, education, and nuclear sclerosis), myopia and hyperopia in 834 sibling pairs within 486 extended pedigrees were performed. Results. Suggestive evidence of linkage was found for hyperopia on chromosome 3, region q26 (empiric P = 5.34 × 10 -4), a region that had shown significant genome-wide evidence of linkage to refraction and some evidence of linkage to hyperopia. In addition, the analysis replicated previously reported genome-wide significant linkages to 22q11 of adjusted refraction and myopia (empiric P = 4.43 × 10 -3 and 1.48 × 10 -3, respectively) and to 7p15 of refraction (empiric P = 9.43 × 10 -4). Evidence was also found of linkage to refraction on 7q36 (empiric P = 2.32 × 10 -3), a region previously linked to high myopia. Conclusions. The findings provide further evidence that genes controlling refractive errors are located on 3q26, 7p15, 7p36, and 22q11.

Original languageEnglish (US)
Pages (from-to)5220-5225
Number of pages6
JournalInvestigative Ophthalmology and Visual Science
Volume52
Issue number8
DOIs
StatePublished - Jul 2011

Fingerprint

Refractive Errors
Myopia
Hyperopia
Rodentia
Genome
Chromosomes, Human, Pair 3
Sclerosis
Pedigree
Lenses
Genes
Retina
Education

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience
  • Medicine(all)

Cite this

Linkage analysis of quantitative refraction and refractive errors in the beaver dam eye study. / Klein, Alison; Duggal, Priya; Lee, Kristine E.; Cheng, Ching Yu; Klein, Ronald; Bailey-Wilson, Joan E.; Klein, Barbara E K.

In: Investigative Ophthalmology and Visual Science, Vol. 52, No. 8, 07.2011, p. 5220-5225.

Research output: Contribution to journalArticle

Klein, Alison ; Duggal, Priya ; Lee, Kristine E. ; Cheng, Ching Yu ; Klein, Ronald ; Bailey-Wilson, Joan E. ; Klein, Barbara E K. / Linkage analysis of quantitative refraction and refractive errors in the beaver dam eye study. In: Investigative Ophthalmology and Visual Science. 2011 ; Vol. 52, No. 8. pp. 5220-5225.
@article{058fb3e890c4416a98d3188f98d2e7e8,
title = "Linkage analysis of quantitative refraction and refractive errors in the beaver dam eye study",
abstract = "Purpose. Refraction, as measured by spherical equivalent, is the need for an external lens to focus images on the retina. While genetic factors play an important role in the development of refractive errors, few susceptibility genes have been identified. However, several regions of linkage have been reported for myopia (2q, 4q, 7q, 12q, 17q, 18p, 22q, and Xq) and for quantitative refraction (1p, 3q, 4q, 7p, 8p, and 11p). To replicate previously identified linkage peaks and to identify novel loci that influence quantitative refraction and refractive errors, linkage analysis of spherical equivalent, myopia, and hyperopia in the Beaver Dam Eye Study was performed. Methods. Nonparametric, sibling-pair, genome-wide linkage analyses of refraction (spherical equivalent adjusted for age, education, and nuclear sclerosis), myopia and hyperopia in 834 sibling pairs within 486 extended pedigrees were performed. Results. Suggestive evidence of linkage was found for hyperopia on chromosome 3, region q26 (empiric P = 5.34 × 10 -4), a region that had shown significant genome-wide evidence of linkage to refraction and some evidence of linkage to hyperopia. In addition, the analysis replicated previously reported genome-wide significant linkages to 22q11 of adjusted refraction and myopia (empiric P = 4.43 × 10 -3 and 1.48 × 10 -3, respectively) and to 7p15 of refraction (empiric P = 9.43 × 10 -4). Evidence was also found of linkage to refraction on 7q36 (empiric P = 2.32 × 10 -3), a region previously linked to high myopia. Conclusions. The findings provide further evidence that genes controlling refractive errors are located on 3q26, 7p15, 7p36, and 22q11.",
author = "Alison Klein and Priya Duggal and Lee, {Kristine E.} and Cheng, {Ching Yu} and Ronald Klein and Bailey-Wilson, {Joan E.} and Klein, {Barbara E K}",
year = "2011",
month = "7",
doi = "10.1167/iovs.10-7096",
language = "English (US)",
volume = "52",
pages = "5220--5225",
journal = "Investigative Ophthalmology and Visual Science",
issn = "0146-0404",
publisher = "Association for Research in Vision and Ophthalmology Inc.",
number = "8",

}

TY - JOUR

T1 - Linkage analysis of quantitative refraction and refractive errors in the beaver dam eye study

AU - Klein, Alison

AU - Duggal, Priya

AU - Lee, Kristine E.

AU - Cheng, Ching Yu

AU - Klein, Ronald

AU - Bailey-Wilson, Joan E.

AU - Klein, Barbara E K

PY - 2011/7

Y1 - 2011/7

N2 - Purpose. Refraction, as measured by spherical equivalent, is the need for an external lens to focus images on the retina. While genetic factors play an important role in the development of refractive errors, few susceptibility genes have been identified. However, several regions of linkage have been reported for myopia (2q, 4q, 7q, 12q, 17q, 18p, 22q, and Xq) and for quantitative refraction (1p, 3q, 4q, 7p, 8p, and 11p). To replicate previously identified linkage peaks and to identify novel loci that influence quantitative refraction and refractive errors, linkage analysis of spherical equivalent, myopia, and hyperopia in the Beaver Dam Eye Study was performed. Methods. Nonparametric, sibling-pair, genome-wide linkage analyses of refraction (spherical equivalent adjusted for age, education, and nuclear sclerosis), myopia and hyperopia in 834 sibling pairs within 486 extended pedigrees were performed. Results. Suggestive evidence of linkage was found for hyperopia on chromosome 3, region q26 (empiric P = 5.34 × 10 -4), a region that had shown significant genome-wide evidence of linkage to refraction and some evidence of linkage to hyperopia. In addition, the analysis replicated previously reported genome-wide significant linkages to 22q11 of adjusted refraction and myopia (empiric P = 4.43 × 10 -3 and 1.48 × 10 -3, respectively) and to 7p15 of refraction (empiric P = 9.43 × 10 -4). Evidence was also found of linkage to refraction on 7q36 (empiric P = 2.32 × 10 -3), a region previously linked to high myopia. Conclusions. The findings provide further evidence that genes controlling refractive errors are located on 3q26, 7p15, 7p36, and 22q11.

AB - Purpose. Refraction, as measured by spherical equivalent, is the need for an external lens to focus images on the retina. While genetic factors play an important role in the development of refractive errors, few susceptibility genes have been identified. However, several regions of linkage have been reported for myopia (2q, 4q, 7q, 12q, 17q, 18p, 22q, and Xq) and for quantitative refraction (1p, 3q, 4q, 7p, 8p, and 11p). To replicate previously identified linkage peaks and to identify novel loci that influence quantitative refraction and refractive errors, linkage analysis of spherical equivalent, myopia, and hyperopia in the Beaver Dam Eye Study was performed. Methods. Nonparametric, sibling-pair, genome-wide linkage analyses of refraction (spherical equivalent adjusted for age, education, and nuclear sclerosis), myopia and hyperopia in 834 sibling pairs within 486 extended pedigrees were performed. Results. Suggestive evidence of linkage was found for hyperopia on chromosome 3, region q26 (empiric P = 5.34 × 10 -4), a region that had shown significant genome-wide evidence of linkage to refraction and some evidence of linkage to hyperopia. In addition, the analysis replicated previously reported genome-wide significant linkages to 22q11 of adjusted refraction and myopia (empiric P = 4.43 × 10 -3 and 1.48 × 10 -3, respectively) and to 7p15 of refraction (empiric P = 9.43 × 10 -4). Evidence was also found of linkage to refraction on 7q36 (empiric P = 2.32 × 10 -3), a region previously linked to high myopia. Conclusions. The findings provide further evidence that genes controlling refractive errors are located on 3q26, 7p15, 7p36, and 22q11.

UR - http://www.scopus.com/inward/record.url?scp=80052786819&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=80052786819&partnerID=8YFLogxK

U2 - 10.1167/iovs.10-7096

DO - 10.1167/iovs.10-7096

M3 - Article

VL - 52

SP - 5220

EP - 5225

JO - Investigative Ophthalmology and Visual Science

JF - Investigative Ophthalmology and Visual Science

SN - 0146-0404

IS - 8

ER -