Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma

Michael A. Hauser, R. Rand Allingham, Kevin Linkroum, Jun Wang, Karen LaRocque-Abramson, Dayse Figueiredo, Cecilia Santiago-Turla, Elizabeth A. Del Bono, Jonathan L. Haines, Margaret A Pericak-Vance, Janey L. Wiggs

Research output: Contribution to journalArticle

100 Citations (Scopus)

Abstract

PURPOSE. To determine the distribution of WDR36 sequence variants in a cohort of patients with primary open-angle glaucoma (POAG) in the United States. METHODS. All of the 23 coding exons and flanking introns of the WDR36 gene were sequenced in 118 probands from families with at least two members affected by POAG, 6 probands from juvenile-onset POAG families, and 108 control individuals. RESULTS. Thirty-two WDR36 sequence variants were found in this population of patients with POAG. Nonsynonymous single-nucleotide polymorphisms (SNPs), including those previously described as "disease-causing" and "disease susceptibility," were found in 17% of POAG patients and 4% of control subjects. Although the distribution of WDR36 variants in the pedigrees did not show consistent segregation with the disease, the WDR36 sequence variants were found more frequently in patients with more severe disease. CONCLUSIONS. The results of this study suggest that abnormalities in WDR36 alone are not sufficient to cause POAG. The association of WDR36 sequence variants with more severe disease in affected individuals suggests that defects in the WDR36 gene can contribute to POAG and that WDR36 may be a glaucoma modifier gene.

Original languageEnglish
Pages (from-to)2542-2546
Number of pages5
JournalInvestigative Ophthalmology and Visual Science
Volume47
Issue number6
DOIs
StatePublished - Jun 1 2006
Externally publishedYes

Fingerprint

Modifier Genes
Disease Susceptibility
Pedigree
Primary Open Angle Glaucoma
Glaucoma
Introns
Genes
Single Nucleotide Polymorphism
Exons
Population

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Hauser, M. A., Allingham, R. R., Linkroum, K., Wang, J., LaRocque-Abramson, K., Figueiredo, D., ... Wiggs, J. L. (2006). Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Investigative Ophthalmology and Visual Science, 47(6), 2542-2546. https://doi.org/10.1167/iovs.05-1476

Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. / Hauser, Michael A.; Allingham, R. Rand; Linkroum, Kevin; Wang, Jun; LaRocque-Abramson, Karen; Figueiredo, Dayse; Santiago-Turla, Cecilia; Del Bono, Elizabeth A.; Haines, Jonathan L.; Pericak-Vance, Margaret A; Wiggs, Janey L.

In: Investigative Ophthalmology and Visual Science, Vol. 47, No. 6, 01.06.2006, p. 2542-2546.

Research output: Contribution to journalArticle

Hauser, MA, Allingham, RR, Linkroum, K, Wang, J, LaRocque-Abramson, K, Figueiredo, D, Santiago-Turla, C, Del Bono, EA, Haines, JL, Pericak-Vance, MA & Wiggs, JL 2006, 'Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma', Investigative Ophthalmology and Visual Science, vol. 47, no. 6, pp. 2542-2546. https://doi.org/10.1167/iovs.05-1476
Hauser MA, Allingham RR, Linkroum K, Wang J, LaRocque-Abramson K, Figueiredo D et al. Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Investigative Ophthalmology and Visual Science. 2006 Jun 1;47(6):2542-2546. https://doi.org/10.1167/iovs.05-1476
Hauser, Michael A. ; Allingham, R. Rand ; Linkroum, Kevin ; Wang, Jun ; LaRocque-Abramson, Karen ; Figueiredo, Dayse ; Santiago-Turla, Cecilia ; Del Bono, Elizabeth A. ; Haines, Jonathan L. ; Pericak-Vance, Margaret A ; Wiggs, Janey L. / Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. In: Investigative Ophthalmology and Visual Science. 2006 ; Vol. 47, No. 6. pp. 2542-2546.
@article{222c1fffe94f46a29595718ca1e7fe76,
title = "Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma",
abstract = "PURPOSE. To determine the distribution of WDR36 sequence variants in a cohort of patients with primary open-angle glaucoma (POAG) in the United States. METHODS. All of the 23 coding exons and flanking introns of the WDR36 gene were sequenced in 118 probands from families with at least two members affected by POAG, 6 probands from juvenile-onset POAG families, and 108 control individuals. RESULTS. Thirty-two WDR36 sequence variants were found in this population of patients with POAG. Nonsynonymous single-nucleotide polymorphisms (SNPs), including those previously described as {"}disease-causing{"} and {"}disease susceptibility,{"} were found in 17{\%} of POAG patients and 4{\%} of control subjects. Although the distribution of WDR36 variants in the pedigrees did not show consistent segregation with the disease, the WDR36 sequence variants were found more frequently in patients with more severe disease. CONCLUSIONS. The results of this study suggest that abnormalities in WDR36 alone are not sufficient to cause POAG. The association of WDR36 sequence variants with more severe disease in affected individuals suggests that defects in the WDR36 gene can contribute to POAG and that WDR36 may be a glaucoma modifier gene.",
author = "Hauser, {Michael A.} and Allingham, {R. Rand} and Kevin Linkroum and Jun Wang and Karen LaRocque-Abramson and Dayse Figueiredo and Cecilia Santiago-Turla and {Del Bono}, {Elizabeth A.} and Haines, {Jonathan L.} and Pericak-Vance, {Margaret A} and Wiggs, {Janey L.}",
year = "2006",
month = "6",
day = "1",
doi = "10.1167/iovs.05-1476",
language = "English",
volume = "47",
pages = "2542--2546",
journal = "Investigative Ophthalmology and Visual Science",
issn = "0146-0404",
publisher = "Association for Research in Vision and Ophthalmology Inc.",
number = "6",

}

TY - JOUR

T1 - Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma

AU - Hauser, Michael A.

AU - Allingham, R. Rand

AU - Linkroum, Kevin

AU - Wang, Jun

AU - LaRocque-Abramson, Karen

AU - Figueiredo, Dayse

AU - Santiago-Turla, Cecilia

AU - Del Bono, Elizabeth A.

AU - Haines, Jonathan L.

AU - Pericak-Vance, Margaret A

AU - Wiggs, Janey L.

PY - 2006/6/1

Y1 - 2006/6/1

N2 - PURPOSE. To determine the distribution of WDR36 sequence variants in a cohort of patients with primary open-angle glaucoma (POAG) in the United States. METHODS. All of the 23 coding exons and flanking introns of the WDR36 gene were sequenced in 118 probands from families with at least two members affected by POAG, 6 probands from juvenile-onset POAG families, and 108 control individuals. RESULTS. Thirty-two WDR36 sequence variants were found in this population of patients with POAG. Nonsynonymous single-nucleotide polymorphisms (SNPs), including those previously described as "disease-causing" and "disease susceptibility," were found in 17% of POAG patients and 4% of control subjects. Although the distribution of WDR36 variants in the pedigrees did not show consistent segregation with the disease, the WDR36 sequence variants were found more frequently in patients with more severe disease. CONCLUSIONS. The results of this study suggest that abnormalities in WDR36 alone are not sufficient to cause POAG. The association of WDR36 sequence variants with more severe disease in affected individuals suggests that defects in the WDR36 gene can contribute to POAG and that WDR36 may be a glaucoma modifier gene.

AB - PURPOSE. To determine the distribution of WDR36 sequence variants in a cohort of patients with primary open-angle glaucoma (POAG) in the United States. METHODS. All of the 23 coding exons and flanking introns of the WDR36 gene were sequenced in 118 probands from families with at least two members affected by POAG, 6 probands from juvenile-onset POAG families, and 108 control individuals. RESULTS. Thirty-two WDR36 sequence variants were found in this population of patients with POAG. Nonsynonymous single-nucleotide polymorphisms (SNPs), including those previously described as "disease-causing" and "disease susceptibility," were found in 17% of POAG patients and 4% of control subjects. Although the distribution of WDR36 variants in the pedigrees did not show consistent segregation with the disease, the WDR36 sequence variants were found more frequently in patients with more severe disease. CONCLUSIONS. The results of this study suggest that abnormalities in WDR36 alone are not sufficient to cause POAG. The association of WDR36 sequence variants with more severe disease in affected individuals suggests that defects in the WDR36 gene can contribute to POAG and that WDR36 may be a glaucoma modifier gene.

UR - http://www.scopus.com/inward/record.url?scp=33745672351&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33745672351&partnerID=8YFLogxK

U2 - 10.1167/iovs.05-1476

DO - 10.1167/iovs.05-1476

M3 - Article

C2 - 16723468

AN - SCOPUS:33745672351

VL - 47

SP - 2542

EP - 2546

JO - Investigative Ophthalmology and Visual Science

JF - Investigative Ophthalmology and Visual Science

SN - 0146-0404

IS - 6

ER -