Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1

Ophthalmic Genetics
M HayashiR Allikmets

Abstract

The age-related maculopathy (ARM) genetics program at Columbia University utilizes comprehensive genetic analysis of candidate genes in large case-control studies to determine genotypes associated with the ARM complex trait. Genes encoding laminins, a class of extracellular matrix proteins, represent attractive candidates for two reasons. First, the presence of laminins in the basal lamina of the retinal pigment epithelium (RPE), Bruch's membrane, and choriocapillaris suggests a possible role in the pathophysiology of ARM. Second, three laminin genes, LAMC1, LAMC2, and LAMB3, are located in the 1q25-31 region, within the previously mapped ARMD1 locus. The entire open reading frame of the three laminin genes was screened for variants by denaturing high-performance liquid chromatography (DHPLC) and direct sequencing in at least 92, and up to 368 ARM patients and matched unaffected controls. Sixty-nine sequence variants were detected in the 69 exons of the LAMC1, LAMC2, and LAMB3 genes. Screening of exon 104 of the recently proposed ARMD1 gene, HEMICENTIN-1, residing in the 1q25-31 locus, did not detect the suggested causal variant, Q5345R, in 632 study subjects. Overall, we did not find statistically significant differences in th...Continue Reading

Citations

Mar 12, 2005·Science·Robert J KleinJosephine Hoh
May 5, 2005·Proceedings of the National Academy of Sciences of the United States of America·Gregory S HagemanRando Allikmets
Dec 2, 2014·Journal of Ophthalmology·Andrea SodiUgo Menchini
Dec 22, 2007·Seminars in Ophthalmology·Sandra R MontezumaJohanna M Seddon
May 26, 2011·Seminars in Ophthalmology·Margaret M DeangelisIvana K Kim
Dec 1, 2006·Survey of Ophthalmology·Matt ChamberlainRobyn Guymer
Nov 26, 2010·Acta Ophthalmologica·María BriónUNKNOWN Spanish multi-centre group of AMD
Jul 5, 2006·Survey of Ophthalmology·Stephen HaddadJohanna M Seddon
Feb 28, 2006·Survey of Ophthalmology·Larry A DonosoGregory Hageman
Jul 31, 2007·Human Genetics·Andrew Lotery, Dorothy Trump
Apr 27, 2007·Retina·Darius M Moshfeghi, Mark S Blumenkranz
Apr 15, 2005·Human Molecular Genetics·Sepideh ZareparsiAnand Swaroop
Jul 10, 2009·Current Opinion in Ophthalmology·Andrew Y C TingIan M MacDonald
Jan 22, 2010·Journal of Genetics·Saritha KattaSubhabrata Chakrabarti

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