Genetic Association of SNPs near ATOH7, CARD10, CDKN2B, CDC7 and SIX1/SIX6 with the Endophenotypes of Primary Open Angle Glaucoma in Indian Population
作者： Ferdinamarie Sharmila Philomenadin , Rashima Asokan , Viswanathan N , Ronnie George , Vijaya Lingam
DOI: 10.1371/JOURNAL.PONE.0119703
关键词:
摘要: Primary open angle glaucoma (POAG) belonging to a group of optic neuropathies, result from interaction between genetic and environmental factors. Study associations with quantitative traits (QTs) is one the successful strategies understand complex genetics POAG. The current study attempts explore association variations near/in genes like ATOH7, SIX1/SIX6 complex, CDKN2B, CARD10, CDC7 POAG its QTs including vertical cup disc ratio (VCDR), central corneal thickness (CCT), intra ocular pressure (IOP), axial length (AL). Case-control design was carried out in sample size 97 cases 371 controls South India. Model-based (additive, recessive, dominant) genotypes their using chi-square, linear logistic regression methods. Nominal significance (P<0.05) observed for i) VCDR SNPs rs1900004 (ATOH7); rs1192415 (CDC7); rs10483727 (SIX1/SIX6), rs9607469 (CARD10); ii) CCT rs1192415; iii) IOP iv) AL rs1063192 (CDKN2B). We were able replicate previously known interactions ATOH7-SIX6 SIX6-CDKN2B along few novel ATOH7—CDC7 SIX6 CARD10 CDC7. In summary, our results suggest that probable among candidate QTs, play major role determining individual’s susceptibility
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