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Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36

Authors :
Elise Ciner
Lauren Reider
Chris Moy
Joan E. Bailey-Wilson
Dwight Stambolian
Robert Wojciechowski
Grace Ibay
Source :
Human Genetics. 119:389-399
Publication Year :
2006
Publisher :
Springer Science and Business Media LLC, 2006.

Abstract

The development of refractive error is mediated by both environmental and genetic factors. We performed regression-based quantitative trait locus (QTL) linkage analysis on Ashkenazi Jewish families to identify regions in the genome responsible for ocular refraction. We measured refractive error on individuals in 49 multi-generational American families of Ashkenazi Jewish descent. The average family size was 11.1 individuals and was composed of 2.7 generations. Recruitment criteria specified that each family contain at least two myopic members. The mean spherical equivalent refractive error in the sample was −3.46D (SD=3.29) and 87% of individuals were myopic. Microsatellite genotyping with 387 markers was performed on 411 individuals. We performed multipoint regression-based linkage analysis for ocular refraction and a log transformation of the trait using the statistical package Merlin-Regress. Empirical genomewide significance levels were estimated through gene-dropping simulations by generating random genotypes at each of the 387 markers in 200 replicates of our pedigrees. Maximum LOD scores of 9.5 for ocular refraction and 8.7 for log-transformed refraction (LTR) were observed at 49.1 cM on chromosome 1p36 between markers D1S552 and D1S1622. The empirical genomewide significance levels were P=0.065 for ocular refraction and P

Details

ISSN :
14321203 and 03406717
Volume :
119
Database :
OpenAIRE
Journal :
Human Genetics
Accession number :
edsair.doi.dedup.....474bdbed744385cd751967c38b431ea7