Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk

Complement factor H and LOC387715 gene polymorphisms in a Greek population with age-related macular degeneration

“…Moreover, at this point it should be noted that the advanced AMD subgroup in our study comprised 15% patients with geographic atrophy that might also have introduced bias in unraveling underlying associations of LOC387715 T270G with AMD or clinical stages of the disease in the present study. Finally, consistent with our results, previous studies have not identified an interaction between CFH and LOC387715; thus, the two loci are considered to independently contribute to AMD, at least at the genomic level [18,30].…”

“…CFH T1277C SNP was strongly associated with AMD, in accordance with previous findings [11][12][13][14][15][16][17][18] and it conferred an increased risk for developing the disease with an odds ratio of 4.4 or 5.5, depending on the presence of one or two C alleles, respectively. Subsequently, patients were divided into early and advanced AMD subgroups in order to detect any associations of CFH T1277C SNP with the clinical stage of the disease.…”

“…The prevalence of the 1277C allele was 60% in Greek AMD patients versus 37% in the control population and within range of previously reported frequencies regarding European and American populations of Caucasian descent [11,12,15,16,18,24]. CFH T1277C SNP was strongly associated with AMD, in accordance with previous findings [11][12][13][14][15][16][17][18] and it conferred an increased risk for developing the disease with an odds ratio of 4.4 or 5.5, depending on the presence of one or two C alleles, respectively.…”

“…In previously published studies, LOC387715 G270T polymorphism was strongly associated with advanced AMD in comparison with the control population and the reported odds ratios for AMD were significantly higher than those reported in the present study [18][19][20][21]27]. Moreover, assessment of differences between patients with GA and CNV has shown that the 270 T allele is primarily [28,29].…”

“…A second major susceptibility gene for AMD is LOC387715, which is considered to contribute to disease risk independently of CFH [18]. A G to T transition at position 270nt of the LOC387715 gene (LOC387715 G270T SNP, rs10490924) generates an alanine to serine amino acid substitution at position 69 (LOC387715 A69S SNP) of the putative polypeptide.…”