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 language | English |
|---|---|
| Pages (from-to) | 2542-2546 |
| Number of pages | 5 |
| Journal | Investigative Ophthalmology and Visual Science |
| Volume | 47 |
| Issue number | 6 |
| DOIs | |
| State | Published - Jun 1 2006 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Ophthalmology
Cite this
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 journal › Article
}
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 -