Moulinath Acharya

TL;DR: High levels of genetic divergence are observed between groups of populations that cluster largely on the basis of ethnicity and language in diverse populations of India.

TL;DR: The Indian Genome Variation (IGV) consortium as discussed by the authors is the first large-scale comprehensive study of the structure of the Indian population with wide-reaching implications, which aims to provide data on validated SNPs and repeats, both novel and reported, along with gene duplications, in over a thousand genes, in 15,000 individuals drawn from Indian subpopulations.

TL;DR: The observation suggests that on rare occasions CYP1B1 may be primarily responsible for JOAG by possible monogenic association, and this observation emphasizes the importance of screening for mutation in this gene of JOAG patients that are determined not to harbor mutations in previously characterized candidate genes and loci for POAG.

TL;DR: The discovery of three genes – Myocilin, Optineurin and CYP1B1 – defects in which results in Mendelian transmission of glaucoma are discovered, enriching the authors' knowledge regarding the complex nature of the disease.

TL;DR: The presence of a novel non-conservative change in codon 48 of MYOC in 3 POAG patients, but none in the healthy controls, suggests a causal association of the mutation with the disease, either singly or in combination with other genetic loci.