An Updated Review on the Genetics of Primary Open Angle Glaucoma.
Riyadh, Saudi Arabia. In Int J Mol Sci, 2014
Recent genome-wide association studies (GWAS) have identified several single nucleotide polymorphisms (SNPs) at different loci including CAV1/CAV2, TMCO1, CDKN2B-AS1, CDC7-TGFBR3, SIX1/SIX6, GAS7 and ATOH7 to be associated with POAG and its related quantitative traits (endophenotypes).
DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma.
Durham, United States. In Invest Ophthalmol Vis Sci, 2014
We further limited our investigation to CNVs in known POAG-related genes, including CDKN2B-AS1, TMCO1, SIX1/SIX6, CAV1/CAV2, the LRP12-ZFPM2 region, GAS7, ATOH7, FNDC3B, CYP1B1, MYOC, OPTN, WDR36, SRBD1, TBK1, and GALC.
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Ankara, Turkey. In Am J Med Genet A, 2014
Using combination of homozygosity mapping and whole-exome sequencing, we identified a homozygous nonsense founder mutation, p.Arg87Ter (c.259 C>T), in the human transmembrane and coiled-coil domains protein 1 (TMCO1) in four out of five families of Turkish origin.
The genetics of intraocular pressure.
Boston, United States. In Semin Ophthalmol, 2013
More recently, genome-wide association studies (GWAS) have shown that common genetic variants in the GAS7 and TMCO1 genomic regions are associated with elevated IOP.