Document Detail

Association of LIPC and advanced age-related macular degeneration.
MedLine Citation:
PMID:  23348725     Owner:  NLM     Status:  MEDLINE    
PURPOSE: To determine whether there is an association between hepatic lipase (LIPC) and age-related macular degeneration (AMD) in two independent Caucasian cohorts.
METHODS: A discovery cohort of 1626 patients with advanced AMD and 859 normal controls and a replication cohort of 2159 cases and 1150 controls were genotyped for two single-nucleotide polymorphisms (SNPs) in the promoter region of LIPC. The associations between the SNPs and AMD were examined by χ(2) tests.
RESULTS: In the discovery cohort, rs493258 and rs10468017 were both associated with advanced AMD (P=9.63E-3 and P=0.048, respectively). The association was corroborated in the replication cohort (P=4.48E-03 for rs493258 and P=0.015 for rs10468017). Combined analysis resulted in even more significant associations (P=1.21E-04 for rs493258 and P=1.67E-03 for rs10468017).
CONCLUSION: The LIPC promoter variants rs493258 and rs10468017 were associated with advanced AMD in two independent Caucasian populations, confirming that LIPC polymorphisms may be a genetic risk factor for AMD in the Caucasian population.
J Lee; J Zeng; G Hughes; Y Chen; S Grob; L Zhao; C Lee; M Krupa; J Quach; J Luo; J Zeng; X Wei; X Zhang; J Zhu; Y Duan; H Ferreyra; M Goldbaum; W Haw; P X Shaw; L Tang; K Zhang
Related Documents :
8434585 - A frequent tyrosinase gene mutation associated with type i-a (tyrosinase-negative) ocul...
24272205 - High-throughput mutation profiling identifies novel molecular dysregulation in high-gra...
24512255 - The serotonin transporter gene polymorphism (5-httlpr) and irritable bowel syndrome: a ...
2117855 - Mutation analysis of an ashkenazi jewish family with gaucher disease in three successiv...
19826035 - Lung adenocarcinoma with egfr amplification has distinct clinicopathologic and molecula...
18325785 - Pathogenic mutations in the glycosylphosphatidylinositol signal peptide of prp modulate...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2013-01-25
Journal Detail:
Title:  Eye (London, England)     Volume:  27     ISSN:  1476-5454     ISO Abbreviation:  Eye (Lond)     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-02-14     Completed Date:  2013-06-03     Revised Date:  2014-02-04    
Medline Journal Info:
Nlm Unique ID:  8703986     Medline TA:  Eye (Lond)     Country:  England    
Other Details:
Languages:  eng     Pagination:  265-70; quiz 271     Citation Subset:  IM    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Aged, 80 and over
Cohort Studies
Gene Frequency
Genetic Predisposition to Disease
Lipase / genetics*
Macular Degeneration / genetics*
Middle Aged
Polymorphism, Single Nucleotide*
Promoter Regions, Genetic / genetics
Reg. No./Substance:
EC protein, human; EC

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Lipid modification in Wnt structure and function.
Next Document:  Intraorbital corticosteroid injection for orbital reactive lymphoid hyperplasia.