Glaucoma in Costa Rica. Initial approaches: [minireview]

Glaucoma is the second most frequent cause of irreversible blindness worldwide. Genetic factors have been implicated in the development of the disease. So far six loci (GLC1A-GLC1F) and two genes (TIGR/MYOC and OPTN) are involved in the development of juvenile (JOAG) and adult onset or chronic primary open angle glaucoma (COAG), while two loci (GLC3A,GLC3B) and one gene (CYP1B1) are known for primary congenital glaucoma (PCG). Here we summarize the results of the first genetic studies of glaucoma in Costa Rica. Nine families: 1 with JOAG, 1 with PCG and 7 with COAG were screened for mutations at the known genes. A 10 bp duplication, 1546-1555dupTCATGCCACC, at the CYP1B1 gene, causes, in homozygous state, glaucoma in the consanguineous PCG family. This mutation has been found in different countries and generates an early stop codon that termitates protein synthesis 140 amino acids earlier than the normal allele. In exon 1 of the T1GR/MYOC the innocuous Arg76Lys variant was found in two of the COAG families. In the OPTN gene two variants in the coding region (Thr34Thr, Met 98Lys) and 7 intronic changes were found in other Costa Rican glaucoma patients. One of the COAG families was chosen for a genome scan with 379 microsatellite markers and linkage analysis. LOD scores [quot ]suggestive[quot ] of linkage were obtained for several chromosomal regions. Evidence indicates that hereditary glaucoma in Costa Rica is highly heterogeneous and that further studies in the country will probably disclose some up to now unknown genes responsible for the disease.

Ankylosing spondylitis susceptibility loci defined by genome-search Meta-analysis / 中国实用内科杂志

Objective To investigate whether there is any consistent evidence of linkage across multiple studies,and to identify novel AS susceptibility loci by using GSMA method.Methods Genome-search Meta-analysis(GSMA)method was applied to genome scans of AS and spondyloarthropathy(SpA)to assess evidence for linkage across studies.Results Four AS genome scans including 479 families with 1151 affected individuals were used.Suggesting these BINS most likely contain AS-linked loci;BINS 6p22.3-p21.1,6pter-p22.3,17pter-p12,2p12-q22.1 and 5q34-qter.Four AS genome scans and one SpA scan including 544 families with 1,331 affected individuals were used.The GSMA produced genome-wide evidence for linkage on bin 6p22.3-p21 and 16q23.1-qter.Conclusion This GSMA added the evidence of the HLA loci as the greatest susceptibility factor to AS and shows evidences of chromosome 6,17p,2,5q and 16q as non-HLA susceptibility loci.