Primary open angle glaucoma is associated with a specific p53 gene haplotype

Association of Polymorphisms of Tumor Necrosis Factor and Tumor Protein p53 with Primary Open-Angle Glaucoma

“…24 Two studies in Caucasian populations replicated this association and showed that specific haplotypes consisting of rs1042522 and rs17878362 (a 16-bp ins/del polymorphism in intron 3) were significantly associated with POAG. 43,44 However, no significant association was identified between rs1042522 and POAG in several studies in Indian, Australian, Japanese, Turkish, and Brazilian populations. [45][46][47][48][49] In addition, no significant association was found between rs17878362 and POAG in Indian and Australian populations.…”

The relationship of TP53 and GRIN2B gene polymorphisms with risk of occurrence and progression of primary open-angle glaucoma in a Polish population

“…The TP53 and GRIN2B genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) according to previously described procedures with some modifications. Primer sequences used for the amplification are the same as described in previous publications [38,39]. Each 20 µl of reaction solution consisted of the following components: 10 ng genomic DNA, 1.25 U Taq polymerase (Qiagen, Chatsworth, CA, USA) in 1 × PCR buffer (100 mM Tris-HCl, pH 8.3; 500 mM KCl; 11 mM MgCl 2 , 0.1% gelatin), 1.5 mM MgCl 2 , 50 µM dNTPs and 250 nM of each primer (Sigma-Aldrich, St. Louis, MO, USA).…”

Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma

“…Ressiniotis et al studied this same polymorphism, as well as a 16 base pair (bp) insertion within intron 3, in a British population. 20 The p53 haplotype which had the bp insertion in conjunction with the Arg72 polymorphism was commoner in OAG patients than in controls. 20 However, this positive association conflicted with earlier work that was conducted in an Indian population.…”