Abstract: The present invention provides, in certain aspects, a method of identifying a subject as having an increased risk of developing multiple sclerosis, comprising detecting in the subject the presence of a nucleotide variant in the interleukin 7 receptor alpha chain gene, whereby the presence of said variant identifies the subject as having an increased risk of developing multiple sclerosis.

Abstract: Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD, but it was not identified. We identified a strongly associated haplotype in two independent data sets. DNA sequencing of the complement factor II gene (CFII) within this haplotype revealed a coding variant, Y402II, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57. This identifies Complement factor II as involved in pathogenesis of AMD. This single variant alone is so common that it likely explains 43 percent of AMD in older adults. In addition, we have replicated and refined previous reports implicating a coding change in LOC387715 as the second major AMD susceptibility allele. The effect of rs10490924 appears to be completely independent of the Y402H variant in the CFH gene.

Abstract: Age-Related Macular Degeneration (AMD) cases possessing the LOC387715 (rs 10490924) variant have a higher risk of neovascular AMD. Individuals with AMD who are homozygous for both variants might be at greater risk for earlier onset of neovascular AMD. Determining the presence of this variant indicates which path the disease may take and which nutritional, supplement, or medicaments are appropriate.

Abstract: Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD, but it was not identified. We identified a strongly associated haplotype in two independent data sets. DNA sequencing of the complement factor II gene (CHI) within this haplotype revealed a coding variant, Y402II, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57. This identifies Complement factor II as involved in pathogenesis of AMD. This single variant alone is so common that it likely explains 43 percent of AMD in older adults. In addition, we have replicated and refined previous reports implicating a coding change in LOC387715 as the second major AMD susceptibility allele. The effect of rs10490924 appears to be completely independent of the Y402II variant in the CFH gene.

Abstract: Examination of 956 age-related macular degeneration cases showed that the complement factor H variant (Y402H, C allele at rs1061170) increases risk for the development of peripheral reticular pigmentary change. AMD phenotypes of 796 carriers of the CFH Y402H variant were compared to the AMD phenotypes of 160 non-carriers. Of 34 phenotypic features analyzed, only peripheral reticular pigmentary change (PRPC) was associated with this CFH variant (P-value 0.0006). The proportion of AMD cases with PRPC correlated with the number of CFH risk C alleles in a dose-response fashion. The association of CFH Y402H polymorphism with PRPC suggests that AMD changes are not limited to the macula. Current AMD grading methods assess only the macula; peripheral retinal changes should also be included in grading methods. PRPC may be used as a surrogate of a high-risk genotype and may be used for diagnostic, therapeutic, and research purposes.

Abstract: Age-Related Macular Degeneration (AMD) cases possessing the LOC387715 (rs10490924) variant have a higher risk of neovascular AMD. Individuals with AMD who are homozygous for both variants might be at greater risk for earlier onset of neovascular AMD. Determining the presence of this variant indicates which path the disease may take and which nutritional, supplement, or medicaments are appropriate.

Abstract: The present invention provides, in certain aspects, a method of identifying a subject as having an increased risk of developing multiple sclerosis, comprising detecting in the subject the presence of a nucleotide variant in the interleukin 7 receptor alpha chain gene, whereby the presence of said variant identifies the subject as having an increased risk of developing multiple sclerosis.