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Abstract #46054 Published in IGR 13-2
XRCC1 and XPD DNA repair gene polymorphisms: A potential risk factor for glaucoma in the Pakistani population
Yousaf S; Khan MI; Micheal S; Akhtar F; Ali SHB; Riaz M; Ali M; Lall P; Waheed NK; den Hollander AIMolecular Vision 2011; 17: 1153-1163
Purpose: The present study was designed to determine the association of polymorphisms of the DNA repair genes X-ray cross-complementing group 1 (XRCC1) (c.1316G>A [rs25487]) and xeroderma pigmentosum complementation group D (XPD) (c.2298A>C [rs13181]) with primary open-angle glaucoma (POAG) and primary closed-angle glaucoma (PCAG). Methods: In this prospective case-control study, polymerase chain reaction-restriction fragment length polymorphism analysis was used to study the association of XRCC1 and XPD with 160 POAG patients, 163 PCAG patients, and 193 unaffected controls. Results: XRCC1 rs25487 was found to be significantly associated specifically with male POAG patients ((chi)(2)=13.2 [p=0.001]), only for the dominant model (odds ratio [OR]=2.65 [95% confidence interval [CI]=1.44-4.85], p<0.005). In addition XPD rs13181 was also found to be associated with male POAG patients ((chi)(2)=12.1 [p<0.005]), for both dominant (OR=2.44 [95% CI=1.33-4.47], p<0.005) as well as recessive model (OR=3.62 [95% CI=1.45-9.01], p<0.01). Combined genotypes of both the genes revealed that the heterozygote AC/GA was significantly associated with the male POAG patients (z=3.00 [p<0.001]). The AA/GG genotype was present at a higher frequency in the male controls and the AA/ GA in the female controls and could thus have a protective role in males and females, respectively. Conclusions: We postulate that defects in the DNA repair genes XRCC1 and XPD may possibly be associated with the progression of POAG in male patients of Pakistani origin.
R. Qamar. Innovation and Commercialization, COMSATS Institute of Information Technology, Park Road, Islamabad-45600, Pakistan. Email: raheelqamar@hotmail.com
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)