Iopq1^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Iopq1^C57BL/6J
• Name: intraocular pressure QTL 1; C57BL/6J
• MGI ID: MGI:6342079
• QTL: Iopq1 Location: Chr8:96926628-103726632 bp Genetic Position: Chr8, Syntenic

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL
• Inheritance: Not Specified

Notes

Mapping and Phenotype information for this QTL, its variants and associated markers

J:277048

Intraocular pressure (IOP) is the primary risk factor for developing glaucoma, yet little is known about the contribution of genomic background to IOP regulation. The present study leverages an array of systems genetics tools to study genomic factors modulating normal IOP in the mouse.

The authors measured the IOP in a total of 506 eyes from 38 different BXD (C57BL/6J x DBA/2J) RI (recombinant inbred) strains.

The mean IOP measured across the 38 strains was 13.2 mmHg and the standard error of the mean was 1.5 mmHg. The strain with the lowest IOP was DBA/2J, with an average IOP of 10.9 mmHg. The strain with the highest IOP was BXD48 with an average IOP of 17.1 mmHg. The IOP of the parental strains was 11.6 mmHg for the C57BL/6J and 10.9 mmHg for the DBA2/J. The heritability of the IOP trait was calculated to be 0.35.

The means for each strain were used to calculate a genome wide interval map. Strain averages were subjected to conventional quantitative trait analysis by means of composite interval mapping. Genotype was regressed against each trait using the Haley-Knott equations implemented in the WebQTL module of GeneNetwork.

One significant QTL was found:

Iopq1 (intraocular pressure QTL 1) maps to Chr 8: 96.2 - 103 Mb (rs3661882 - rs13479958) with a peak LOD score of 25.4 at 99.6 Mb (inferred from Fig. 3). BXD strains with higher IOPs tend to have the C57BL/6J allele at Iopq1, while strains with lower IOPs tend to have the DBA/2J allele.

The authors report Cdh11 (Cadherin 11) as the most likely Iopq1 candidate gene.

References

• Original: J:277048 King R, et al., Genomic Locus Modulating IOP in the BXD RI Mouse Strains. G3 (Bethesda). 2018 May 4;8(5):1571-1578
• All: 1 reference(s)