TY - JOUR
T1 - XRCC1 and XPD DNA repair gene polymorphisms
T2 - A potential risk factor for glaucoma in the Pakistani population
AU - Yousaf, Sajeela
AU - Khan, Muhammad Imran
AU - Micheal, Shazia
AU - Akhtar, Farah
AU - Ali, Syeda Hafiza Benish
AU - Riaz, Moeen
AU - Ali, Mahmood
AU - Lall, Pramila
AU - Waheed, Nadia Khalida
AU - den Hollander, Anneke I.
AU - Ahmed, Asifa
AU - Qamar, Raheel
PY - 2011/5/31
Y1 - 2011/5/31
N2 -
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 (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.
AB -
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 (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.
UR - http://www.scopus.com/inward/record.url?scp=79957562634&partnerID=8YFLogxK
M3 - Article
C2 - 21617750
AN - SCOPUS:79957562634
VL - 17
SP - 1153
EP - 1163
JO - Molecular Vision
JF - Molecular Vision
SN - 1090-0535
ER -