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Article

Molecular Genetics and Functional Analysis Implicate CDKN2BAS1-CDKN2B Involvement in POAG Pathogenesis.

Cells - 21 Aug 2020

Rathi Sonika, Danford Ian, Gudiseva Harini V, Verkuil Lana, Pistilli Maxwell, Vishwakarma Sushma, Kaur Inderjeet, Dave Tarjani, O'Brien Joan M, Chavali Venkata R M

Abstract excerpt

The genes in the 9p21 locus (CDKN2B-AS1 & CDKN2B) are widely associated with Primary open-angle glaucoma (POAG). However, the functional importance of this locus in POAG pathogenesis is still unexplored. This study investigated the role of CDKN2BAS1-CDKN2B axis in POAG. We observed significant association of CDKN2B-AS1 SNP rs4977756 with POAG and its endophenotypic traits (vertical cup-disc ratio (p = 0.033) and...

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PMID: 32825664
DOI: 10.3390/cells9091934
PMCID: PMC7564117

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