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CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses.
Tuesday,2012-11-06 12:07 America/Los_Angeles — eenright
| Title | CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. |
| Publication Type | Journal Article |
| Year of Publication | 2006 |
| Authors | Conley, YP, Jakobsdottir, J, Mah, T, Weeks, DE, Klein, R, Kuller, L, Ferrell, RE, Gorin, MB |
| Journal | Hum Mol Genet |
| Volume | 15 |
| Issue | 21 |
| Pagination | 3206-18 |
| Date Published | 2006 Nov 01 |
| ISSN | 0964-6906 |
| Keywords | Aged, Aged, 80 and over, Case-Control Studies, Cohort Studies, Complement Factor H, Eye Proteins, Female, Genetic Predisposition to Disease, Humans, Intracellular Signaling Peptides and Proteins, Macular Degeneration, Male, Membrane Proteins, Proteins |
| Abstract | <p>Age-related maculopathy (ARM) is an important cause of visual impairment in the elderly population. It is of crucial importance to identify genetic factors and their interactions with environmental exposures for this disorder. This study was aimed at investigating the CFH, ELOVL4, PLEKHA1 and LOC387715 genes in independent cohorts collected using different ascertainment schemes. The study used a case-control design with subjects originally recruited through the Cardiovascular Health Study (CHS) and the Age-Related Eye Disease Study (AREDS). CFH was significantly associated with ARM in both cohorts (P</=0.00001). A meta-analysis confirmed that the risk allele in the heterozygous or homozygous state (OR, 2.4 and 6.2; 95% CI, 2.2-2.7 and 5.4-7.2, respectively) confers susceptibility. LOC387715 was also significantly associated with ARM in both cohorts (P</=0.00001) and a meta-analysis confirmed that the risk allele in the heterozygous and homozygous state (OR, 2.5 and 7.3; 95% CI, 2.2-2.9 and 5.7-9.4, respectively) confers susceptibility. Both CFH and LOC387715 showed an allele-dose effect on the ARM risk, individuals homozygous at either locus were at more than two-fold risk compared to those heterozygous. PLEKHA1, which is closely linked to LOC387715, was significantly associated with ARM status in the AREDS cohort, but not the CHS cohort and ELOVL4 was not significantly associated with ARM in either cohort. Joint action of CFH and LOC387715 was best described by independent multiplicative effect without significant interaction in both cohorts. Interaction of both genes with cigarette smoking was insignificant in both cohorts. This study provides additional support for the CFH and LOC387715 genes in ARM susceptibility via the evaluation of cohorts that had different ascertainment schemes regarding ARM status and through the meta-analyses.</p> |
| DOI | 10.1093/hmg/ddl396 |
| Alternate Journal | Hum Mol Genet |
| PubMed ID | 17000705 |
| Grant List | N01 HC-15103 / HC / NHLBI NIH HHS / United States N01 HC-55222 / HC / NHLBI NIH HHS / United States N01-HC-35129 / HC / NHLBI NIH HHS / United States N01-HC-85079 / HC / NHLBI NIH HHS / United States N01-HC-85086 / HC / NHLBI NIH HHS / United States R01EY009859 / EY / NEI NIH HHS / United States U01 HL080295 / HL / NHLBI NIH HHS / United States |