ABCMdb

PMID: 15829498

Zareparsi S, Buraczynska M, Branham KE, Shah S, Eng D, Li M, Pawar H, Yashar BM, Moroi SE, Lichter PR, Petty HR, Richards JE, Abecasis GR, Elner VM, Swaroop A
Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.
Hum Mol Genet. 2005 Jun 1;14(11):1449-55. Epub 2005 Apr 13., [PubMed]

Sentences

No. Mutations Sentence Comment

69 ABCA1 p.Arg219Lys Interaction of TLR4-D299G with ABCA1-R219K and APOE variants Given that ABCA1 and APOE are downstream in TLR4 signaling pathway (48,49), participate in cholesterol metabolism and are associated with atherosclerosis (43,53), we determined whether ABCA1 and APOE variants interact with TLR4-D299G in contributing to AMD susceptibility. Login to comment 70 ABCA1 p.Arg219Lys The frequency of the K allele of ABCA1-R219K (associated with reduced risk of atherosclerosis) (53) was similar between AMD patients and controls (0.29 versus 0.29, P . Login to comment 71 ABCA1 p.Arg219Lys Interaction of TLR4-D299G with ABCA1-R219K and APOE variants Given that ABCA1 and APOE are downstream in TLR4 signaling pathway (48,49), participate in cholesterol metabolism and are associated with atherosclerosis (43,53), we determined whether ABCA1 and APOE variants interact with TLR4-D299G in contributing to AMD susceptibility. Login to comment 72 ABCA1 p.Arg219Lys The frequency of the K allele of ABCA1-R219K (associated with reduced risk of atherosclerosis) (53) was similar between AMD patients and controls (0.29 versus 0.29, P . Login to comment 79 ABCA1 p.Arg219Lys There was no significant interaction between TLR4-D299G, ABCA1-R219K and APOE on AMD susceptibility (Table 4). Login to comment 80 ABCA1 p.Arg219Lys Nevertheless, ABCA1-R219K further contributed to the additive effect and the risk of AMD was increased by 4-fold in carriers of the risk alleles for all three genes (Gþ, Kþ and 142) when compared with those without the risk alleles (G2, K2 and 14þ) (Table 4). Login to comment 82 ABCA1 p.Arg219Lys Nevertheless, ABCA1-R219K further contributed to the additive effect and the risk of AMD was increased by 4-fold in carriers of the risk alleles for all three genes (G&#fe;, K&#fe; and 142) when compared with those without the risk alleles (G2, K2 and 14&#fe;) (Table 4). Login to comment 83 ABCA1 p.Arg219Lys Age at diagnosis of AMD did not vary significantly in the presence of the TLR4-D299G-G allele (70.6 + 9.3 versus 71.4 + 8.7) or the ABCA1-R219K-K allele (71.7 + 8.7 versus 70.9 + 8.8). Login to comment 85 ABCA1 p.Arg219Lys Age at diagnosis of AMD did not vary significantly in the presence of the TLR4-D299G-G allele (70.6 + 9.3 versus 71.4 + 8.7) or the ABCA1-R219K-K allele (71.7 + 8.7 versus 70.9 + 8.8). Login to comment 107 ABCA1 p.Arg219Lys Here, we show that the variants reported to correlate with reduced risk of atherogenesis (TLR4-D299G, ABCA1-R219K and APOE-12/3) are associated with increased risk of AMD. Login to comment 109 ABCA1 p.Arg219Lys Here, we show that the variants reported to correlate with reduced risk of atherogenesis (TLR4-D299G, ABCA1-R219K and APOE-12/3) are associated with increased risk of AMD. Login to comment 137 ABCA1 p.Arg219Lys APOE and ABCA1-R219K genotypes were obtained using previously described methods by PCR and restriction digestion (53,64). Login to comment 148 ABCA1 p.Arg219Lys Additive effects between the TLR4-D299G and/or APOE and/or ABCA1-R219K were analyzed by logistic regression, where those carrying the risk alleles for any given combination of SNPs were compared with those who lacked the risk alleles for those SNPs (e.g. TLR4-G and ABCA1-K carriers compared with TLR4-DD and TLR4-RR individuals). Login to comment