title: XRCC1 and XPD DNA repair gene polymorphisms: a potential risk factor for glaucoma in the Pakistani population.
abstract: OBJECTIVE
  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 (χ(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 (χ(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.
authors: Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.
authors: Sajeela
authors: S
authors: Yousaf
authors: Muhammad Imran
authors: MI
authors: Khan
authors: Shazia
authors: S
authors: Micheal
authors: Farah
authors: F
authors: Akhtar
authors: Syeda Hafiza Benish
authors: SH
authors: Ali
authors: Moeen
authors: M
authors: Riaz
authors: Mahmood
authors: M
authors: Ali
authors: Pramila
authors: P
authors: Lall
authors: Nadia Khalida
authors: NK
authors: Waheed
authors: Anneke I
authors: AI
authors: den Hollander
authors: Asifa
authors: A
authors: Ahmed
authors: Raheel
authors: R
authors: Qamar
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