The association study of lipid metabolism gene polymorphisms with AMD identifies a protective role for APOE-E2 allele in the wet form in a Northern Spanish population.

PURPOSE: To elucidate the potential role of eleven single nucleotide polymorphisms (SNPs) in the most relevant lipid metabolism genes in Northern Spanish patients with age-related macular degeneration (AMD). METHODS: A case-control study of 228 unrelated native Northern Spanish patients diagnosed with AMD (73 dry and 155 wet) and 95 healthy controls was performed. DNA was isolated from peripheral blood and genotyped for the SNPs APOE rs429358 and rs7412; CTEP rs3764261; LIPC rs10468017 and rs493258; LPL rs12678919; ABCA1 rs1883025; ABCA4 rs76157638, rs3112831 and rs1800555; and SCARB1 rs5888, using TaqMan probes. An additional association study of ε2, ε3 and ε4 major isoforms of APOE gene with AMD has been carried out. RESULTS: The allele and genotype frequencies for each of the eleven sequence variants in the lipid metabolism genes did not show significant differences when comparing AMD cases and controls. Statistical analysis revealed that APOE-ε2 carrier genotypes were less frequently observed in patients with wet AMD compared to controls (5.8% versus 13.7%, respectively: p = 3.28 × 10-2 ; OR = 0.42, 95% CI: 0.19-0.95). The frequency of the allele T of rs10468017 (LIPC gene) was lower in dry AMD cases compared to controls (15.8 versus 27.9%, respectively: p = 8.4 × 10-3 OR = 0.57, 95% CI: 0.33-0.98). CONCLUSIONS: Our results suggest a protective role for APOE-ε2 allele to wet AMD in the Northern Spanish population.

Association study of high-frequency variants of MTHFR gene with retinal vein occlusion in a Spanish population.

Background: To study the association of the most common methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms C677T and A1298C with retinal vein occlusion (RVO) in a Spanish population. Methods: Case-control study involving 359 subjects, 183 unrelated native Spanish patients diagnosed with RVO, distributed in central or branch RVO, and 176 healthy controls. Two SNPs located in the gene MTHFR, C677T (rs1801133) and A1298C (rs1801131) were analyzed by DNA sequencing and TaqMan assays. Results: A high prevalence of the MTHFR variants T and C of the SNP C677T and A1298C, respectively, was observed in our population. Specifically, 88.07% of controls and 85.25% of RVO patients have at least one of these variants. However, the prevalence of these variants was not significantly different when comparing RVO patients and controls. The variant T of C677T was identified in 60.65% of RVO patients and 59.10% of control subjects, while the variant C of A1298C was present in 46.45% of RVO patients and 51.14% of controls. No association of dyslipidemia, diabetes mellitus, glaucoma, thyroid disease and renal disease with RVO was observed, while hypertension was significantly higher in the RVO patients (p < .0001). Conclusions: The MTHFR variants, T of C677T and C of A1298C, did not significantly increase the risk of suffering RVO in a Spanish population and therefore additional risk factors are contributing to the onset of the disease.