Evaluation of Optineurin as a candidate gene in Indianpatients with primary open angle glaucoma

[摘要] Purpose: To evaluate the role of the optineurin gene (OPTN)in Indian primary open angle glaucoma (POAG) patients from differentparts of the country.Methods: Two hundred patients with POAG and 200 ethnically matchednormal controls were recruited from various parts of India for thestudy. The entire coding region of OPTN along with the intron-exonboundaries were screened by PCR and single strand conformationpolymorphism (SSCP) followed by direct sequencing. A rapid screeningmethod was developed for some of the observed variants by denaturinghigh performance liquid chromatography (dHPLC). Four variants were alsoconfirmed by digesting the amplicon with appropriate restrictionenzymes.Results: Seven nucleotide changes were observed in OPTN of whichone was a putative mutation in exon 16 (Arg545Gln) that was observed insix POAG patients and not in the controls (p<0.05). The remainingvariants comprised four single nucleotide polymorphisms (SNPs) in thecoding region (Thr34Thr, Met98Lys, Arg149Arg, and Asn303Lys) and two inintron 6 (879-10G>A and 879-5C>T). But frequencies of the minorallele were not significantly different among the patients and controls.The Met98Lys variant that was identified to be a potential risk factorfor NTG and POAG in some Asian populations and also for modulating IOPin Caucasian populations, did not exhibit any significant association tothe disease phenotype.Conclusions: Despite a putative mutation (Arg545Gln) in somepatients, the present study does not suggest a significant involvementof OPTN in POAG patients of Indian origin.

[学科分类] 生物化学/生物物理