Analysis of Hemicentin-1, HOGG1, and E-Selectin single nucleotide polymorphisms in age-related macular degeneration

Christine M. Bojanowski, Jingsheng Tuo, Emily Y. Chew, Karl G. Csaky, Chi Chao Chan, Irene H. Maumenee

Research output: Contribution to journalArticle

Abstract

Purpose: Age-related macular degeneration (AMD) is a common disease in which both environmental and genetic factors have been implicated. Various single nucleotide polymorphisms (SNPs) have been correlated, through candidate gene association studies, with age-related diseases, including AMD. Recently we identified an association between AMD and two SNPs in CX3CR1, which encodes a chemokine receptor. This study investigates the Hemicentin-1 (an extracellular matrix protein) Q5345R, hOgg1 (DNA repair gene) S326C, and E-selectin (an adhesion molecule) S149R SNPs in association with AMD. Methods: Genomic DNA was extracted from peripheral blood of 89 patients with advanced AMD, 97 age-matched controls without clinical AMD, and 170 random unscreened healthy volunteers. DNA was subjected to polymerase chain reaction amplification coupled with the restriction fragment length polymorphism assay. Results: The distribution of the Hemicentin-1 Q5345R, hOgg1 S326C, and E-selectin S149R SNPs did not differ significantly (all P values > .05) between the AMD patients and controls. Hemincentin-1 5345R was not found in any subject. hOgg1 326C allele frequency was 21.35% (38 of 178) in the AMD group compared with 19.12% (65 of 340) in the random controls and 19.59% (38 of 194) in the age-matched controls. E-selectin 149R allele frequencies were 8.99% (16 of 178) in AMD cases, 9.41% (32 of 340) in random controls, and 10.82% (21 of 194) in age-matched controls. Conclusions: We were not able to demonstrate an association between the Hemicentin-1, hOgg1, and E-selectin SNPs and AMD development in the currently available cases and controls. Further candidate genes, particularly those involved in extracellular matrix, oxidative stress, and immune system functions, are currently being screened in our laboratory.

Original languageEnglish (US)
Pages (from-to)37-45
Number of pages9
JournalTransactions of the American Ophthalmological Society
Volume103
StatePublished - 2005
Externally publishedYes

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E-Selectin
Macular Degeneration
Single Nucleotide Polymorphism
Gene Frequency
Chemokine Receptors
Extracellular Matrix Proteins
DNA
Genetic Association Studies
DNA Repair
Restriction Fragment Length Polymorphisms
Genes
Extracellular Matrix
Immune System
Healthy Volunteers
Oxidative Stress
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Analysis of Hemicentin-1, HOGG1, and E-Selectin single nucleotide polymorphisms in age-related macular degeneration. / Bojanowski, Christine M.; Tuo, Jingsheng; Chew, Emily Y.; Csaky, Karl G.; Chan, Chi Chao; Maumenee, Irene H.

In: Transactions of the American Ophthalmological Society, Vol. 103, 2005, p. 37-45.

Research output: Contribution to journalArticle

Bojanowski, Christine M. ; Tuo, Jingsheng ; Chew, Emily Y. ; Csaky, Karl G. ; Chan, Chi Chao ; Maumenee, Irene H. / Analysis of Hemicentin-1, HOGG1, and E-Selectin single nucleotide polymorphisms in age-related macular degeneration. In: Transactions of the American Ophthalmological Society. 2005 ; Vol. 103. pp. 37-45.
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abstract = "Purpose: Age-related macular degeneration (AMD) is a common disease in which both environmental and genetic factors have been implicated. Various single nucleotide polymorphisms (SNPs) have been correlated, through candidate gene association studies, with age-related diseases, including AMD. Recently we identified an association between AMD and two SNPs in CX3CR1, which encodes a chemokine receptor. This study investigates the Hemicentin-1 (an extracellular matrix protein) Q5345R, hOgg1 (DNA repair gene) S326C, and E-selectin (an adhesion molecule) S149R SNPs in association with AMD. Methods: Genomic DNA was extracted from peripheral blood of 89 patients with advanced AMD, 97 age-matched controls without clinical AMD, and 170 random unscreened healthy volunteers. DNA was subjected to polymerase chain reaction amplification coupled with the restriction fragment length polymorphism assay. Results: The distribution of the Hemicentin-1 Q5345R, hOgg1 S326C, and E-selectin S149R SNPs did not differ significantly (all P values > .05) between the AMD patients and controls. Hemincentin-1 5345R was not found in any subject. hOgg1 326C allele frequency was 21.35{\%} (38 of 178) in the AMD group compared with 19.12{\%} (65 of 340) in the random controls and 19.59{\%} (38 of 194) in the age-matched controls. E-selectin 149R allele frequencies were 8.99{\%} (16 of 178) in AMD cases, 9.41{\%} (32 of 340) in random controls, and 10.82{\%} (21 of 194) in age-matched controls. Conclusions: We were not able to demonstrate an association between the Hemicentin-1, hOgg1, and E-selectin SNPs and AMD development in the currently available cases and controls. Further candidate genes, particularly those involved in extracellular matrix, oxidative stress, and immune system functions, are currently being screened in our laboratory.",
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T1 - Analysis of Hemicentin-1, HOGG1, and E-Selectin single nucleotide polymorphisms in age-related macular degeneration

AU - Bojanowski, Christine M.

AU - Tuo, Jingsheng

AU - Chew, Emily Y.

AU - Csaky, Karl G.

AU - Chan, Chi Chao

AU - Maumenee, Irene H.

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N2 - Purpose: Age-related macular degeneration (AMD) is a common disease in which both environmental and genetic factors have been implicated. Various single nucleotide polymorphisms (SNPs) have been correlated, through candidate gene association studies, with age-related diseases, including AMD. Recently we identified an association between AMD and two SNPs in CX3CR1, which encodes a chemokine receptor. This study investigates the Hemicentin-1 (an extracellular matrix protein) Q5345R, hOgg1 (DNA repair gene) S326C, and E-selectin (an adhesion molecule) S149R SNPs in association with AMD. Methods: Genomic DNA was extracted from peripheral blood of 89 patients with advanced AMD, 97 age-matched controls without clinical AMD, and 170 random unscreened healthy volunteers. DNA was subjected to polymerase chain reaction amplification coupled with the restriction fragment length polymorphism assay. Results: The distribution of the Hemicentin-1 Q5345R, hOgg1 S326C, and E-selectin S149R SNPs did not differ significantly (all P values > .05) between the AMD patients and controls. Hemincentin-1 5345R was not found in any subject. hOgg1 326C allele frequency was 21.35% (38 of 178) in the AMD group compared with 19.12% (65 of 340) in the random controls and 19.59% (38 of 194) in the age-matched controls. E-selectin 149R allele frequencies were 8.99% (16 of 178) in AMD cases, 9.41% (32 of 340) in random controls, and 10.82% (21 of 194) in age-matched controls. Conclusions: We were not able to demonstrate an association between the Hemicentin-1, hOgg1, and E-selectin SNPs and AMD development in the currently available cases and controls. Further candidate genes, particularly those involved in extracellular matrix, oxidative stress, and immune system functions, are currently being screened in our laboratory.

AB - Purpose: Age-related macular degeneration (AMD) is a common disease in which both environmental and genetic factors have been implicated. Various single nucleotide polymorphisms (SNPs) have been correlated, through candidate gene association studies, with age-related diseases, including AMD. Recently we identified an association between AMD and two SNPs in CX3CR1, which encodes a chemokine receptor. This study investigates the Hemicentin-1 (an extracellular matrix protein) Q5345R, hOgg1 (DNA repair gene) S326C, and E-selectin (an adhesion molecule) S149R SNPs in association with AMD. Methods: Genomic DNA was extracted from peripheral blood of 89 patients with advanced AMD, 97 age-matched controls without clinical AMD, and 170 random unscreened healthy volunteers. DNA was subjected to polymerase chain reaction amplification coupled with the restriction fragment length polymorphism assay. Results: The distribution of the Hemicentin-1 Q5345R, hOgg1 S326C, and E-selectin S149R SNPs did not differ significantly (all P values > .05) between the AMD patients and controls. Hemincentin-1 5345R was not found in any subject. hOgg1 326C allele frequency was 21.35% (38 of 178) in the AMD group compared with 19.12% (65 of 340) in the random controls and 19.59% (38 of 194) in the age-matched controls. E-selectin 149R allele frequencies were 8.99% (16 of 178) in AMD cases, 9.41% (32 of 340) in random controls, and 10.82% (21 of 194) in age-matched controls. Conclusions: We were not able to demonstrate an association between the Hemicentin-1, hOgg1, and E-selectin SNPs and AMD development in the currently available cases and controls. Further candidate genes, particularly those involved in extracellular matrix, oxidative stress, and immune system functions, are currently being screened in our laboratory.

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