April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Genome-wide Linkage Analysis Using Large Consanguineous Pedigrees from South India Identifies New Loci for Ocular Quantitative Traits
Author Affiliations & Notes
  • Baojian Fan
    Dept of Ophthalmology Harvard Med Sch, Massachusetts Eye & Ear Infirmary, Boston, MA
  • P. Ferdina Marie Sharmila
    SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, India
  • N. Soumittra
    SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, India
  • S. Sripriya
    SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, India
  • David S Friedman
    Johns Hopkins Medical School, Wilmer Eye Institute, Baltimore, MD
  • L. Vijaya
    Medical Research Foundation, Sankara Nethralaya, Chennai, India
  • Jonathan L Haines
    Center for Human Genetic Research, Vanderbilt University School of Medicine, Nashville, TN
  • Ronnie J George
    Medical Research Foundation, Sankara Nethralaya, Chennai, India
  • Janey L Wiggs
    Dept of Ophthalmology Harvard Med Sch, Massachusetts Eye & Ear Infirmary, Boston, MA
  • Footnotes
    Commercial Relationships Baojian Fan, None; P. Ferdina Marie Sharmila, None; N. Soumittra, None; S. Sripriya, None; David Friedman, None; L. Vijaya, None; Jonathan Haines, None; Ronnie George, None; Janey Wiggs, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 6406. doi:
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      Baojian Fan, P. Ferdina Marie Sharmila, N. Soumittra, S. Sripriya, David S Friedman, L. Vijaya, Jonathan L Haines, Ronnie J George, Janey L Wiggs; Genome-wide Linkage Analysis Using Large Consanguineous Pedigrees from South India Identifies New Loci for Ocular Quantitative Traits. Invest. Ophthalmol. Vis. Sci. 2014;55(13):6406.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract 
 
Purpose
 

Many ocular quantitative traits are highly heritable. Mapping genes contributing to these quantitative traits may effectively identify genetic risk factors predisposing to related complex diseases, such as glaucoma. Compared to outbred pedigrees, consanguineous pedigrees are expected to have more power to identify quantitative trait alleles with additive or subtractive effects. Additionally, inbreeding due to social customs or geographic constraints may reduce genetic heterogeneity. The purpose of this study is to use consanguineous pedigrees from South India for mapping genetic loci for ocular quantitative traits.

 
Methods
 

240 members of 16 Indian consanguineous pedigrees from South India (Chennai) underwent a comprehensive ophthalmic examination for 49 selected ocular quantitative traits. Genotyping was performed using the Illumina HumanOmni2.5-8 platform. Multipoint linkage analysis of 1,223,314 SNPs was performed using the variance components analysis in MERLIN (v1.1.2). All traits were adjusted for age and sex, and inverse-normal transformation of ranks was applied before analysis.

 
Results
 

Significant novel linkage signals (LOD > 3.3) were identified for astigmatic refractive error (LOD = 6.58 on 14q21.3-22.1, 5.68 on 16p12.3, 4.62 on 13q31.3 and 4.44 on 10p15.3), cup depth (LOD = 3.92 on 12q24.31), vertical cup-disc ratio (LOD = 3.62 on 14q32.12), lens thickness (LOD = 3.50 on 3p22.3) and axial length (LOD = 3.45 on 6q24.1). Suggestive evidence of linkage (LOD > 1.9) was identified for anterior chamber depth, central corneal thickness, contour line modulation temporal to inferior, corneal resistance factor, cup disc area ratio, cup size, cup volume, horizontal cup disc ratio, linear cup disc ratio, maximum contour depression, reference height, rim area, rim disc area ratio, rim steepness, rim volume, temporal superior nasal inferior temporal average and waveform score.

 
Conclusions
 

This study shows that a relatively small number of consanguineous pedigrees can provide sufficient power to identify quantitative trait loci. Further evaluation of interesting candidate genes located within these linkage intervals is ongoing.

 
Keywords: 534 gene mapping • 581 linkage analysis • 539 genetics  
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