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Erschienen in: Graefe's Archive for Clinical and Experimental Ophthalmology 8/2014

01.08.2014 | Cataract

Association between DNA repair genes (XPD and XRCC1) polymorphisms and susceptibility to age-related cataract (ARC): a meta-analysis

verfasst von: Lie-rui Zheng, Jian-jun Ma, Dang-xia Zhou, Li-feng An, Ya-qing Zhang

Erschienen in: Graefe's Archive for Clinical and Experimental Ophthalmology | Ausgabe 8/2014

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Abstract

Background

DNA repair gene (XPD and XRCC1) polymorphisms have been considered as risk factors for the development of age-related cataract (ARC). To confirm the association between DNA repair gene (XPD and XRCC1) polymorphisms and the risk of ARC, a meta-analysis was conducted.

Methods

A search was made of published literature from Institute for Scientific Information (ISI) Web of Knowledge, PubMed, Google Scholar, China National Knowledge Infrastructure (CNKI), and Wanfang Data. In addition, all studies evaluating the association between DNA repair genes (XPD and XRCC1) polymorphisms and the risk for ARC were included in our analysis. Pooled odds ratio (OR) and 95 % confidence interval (CI) were calculated by using fixed- or random-effects model. The Egger’s test was used to check the publication bias.

Results

Six studies on XRCC1 Arg399Gln (1,300 cases, 1,222 controls) and five studies on XPD Lys751Gln (1,092 cases, 1,061 controls) were included. For the XPD Lys751Gln (A/C) SNP, the overall analysis demonstrated that the CC genotype showed a significant association with a decreased risk for ARC compared with the AA genotype (OR = 0.59, 95 % CI, 0.38–0.92, P = 0.019). Similarly, the CC genotype showed a significant association with a decreased risk for ARC compared with the (AA + AC) genotype (OR = 0.65, 95 % CI, 0.43–0.98, P = 0.040). Subgroup analysis showed that the association between the CC genotype and decreased risk for ARC is statistically significant in Caucasians (OR = 0.41, 95 % CI, 0.24–0.73, P = 0.002) but not in Asians (OR = 1.06, 95 % CI, 0.51–2.19, P = 0.877). For the XRCC1 Arg399Gln (G/A) SNP, the overall analysis demonstrated that the A allele showed a significant association with an increased risk for ARC compared with the G allele (OR = 1.16, 95 % CI, 1.03–1.31, P = 0.015). Subgroup analyses exhibited that the association between the A allele and the risk for ARC was statistically significant in Asians (OR = 1.23, 95 % CI, 1.07–1.41, P = 0.003) but not in Caucasians (OR = 0.94, 95 % CI, 0.73–1.22, P = 0.660). Compared with the GG genotype, the GA genotype showed a significant association with an increased risk for ARC in Asians (OR = 1.32, 95 % CI, 1.08–1.61, P = 0.006) but not in Caucasians (OR = 0.58, 95 % CI, 0.27–1.26, P = 0.171). The Egger’s test did not reveal an obvious publication bias among the included studies.

Conclusions

Our meta-analysis suggested that the CC genotype of XPD Lys751Gln (A/C) SNP seemed to portend a decreased risk for ARC in Caucasian populations but not in Asian populations. The A allele and GA genotype of XRCC1 Arg399Gln (G/A) SNP might increase risk for ARC in Asian populations but not in Caucasian populations. More researches with larger and more different ethnic populations on this issue are therefore necessary.
Literatur
1.
Zurück zum Zitat Pascolini D, Mariotti SP (2012) Global estimates of visual impairment: 2010. Br J Ophthalmol 96:614–618PubMedCrossRef Pascolini D, Mariotti SP (2012) Global estimates of visual impairment: 2010. Br J Ophthalmol 96:614–618PubMedCrossRef
2.
Zurück zum Zitat Resnikoff S, Pascolini D, Etya’Ale D, Kocur I, Pararajasegaram R, Pokharel GP, Mariotti SP (2004) Global data on visual impairment in the year 2002. Bull World Health Organ 82:844–851PubMedCentralPubMed Resnikoff S, Pascolini D, Etya’Ale D, Kocur I, Pararajasegaram R, Pokharel GP, Mariotti SP (2004) Global data on visual impairment in the year 2002. Bull World Health Organ 82:844–851PubMedCentralPubMed
3.
Zurück zum Zitat Saadat I, Ahmadi Z, Farvardin-Jahromi M, Saadat M (2012) Association between cataract and genetic polymorphisms of GSTM1, GSTT1, and GSTO2 with respect of work place. Mol Vis 18:1996–2000PubMedCentralPubMed Saadat I, Ahmadi Z, Farvardin-Jahromi M, Saadat M (2012) Association between cataract and genetic polymorphisms of GSTM1, GSTT1, and GSTO2 with respect of work place. Mol Vis 18:1996–2000PubMedCentralPubMed
4.
Zurück zum Zitat Sasikala V, Rooban BN, Sahasranamam V, Abraham A (2013) Rutin ameliorates free radical mediated cataract by enhancing the chaperone activity of alpha-crystallin. Graefes Arch Clin Exp Ophthalmol 251:1747–1755PubMedCrossRef Sasikala V, Rooban BN, Sahasranamam V, Abraham A (2013) Rutin ameliorates free radical mediated cataract by enhancing the chaperone activity of alpha-crystallin. Graefes Arch Clin Exp Ophthalmol 251:1747–1755PubMedCrossRef
5.
Zurück zum Zitat Olofsson EM, Marklund SL, Behndig A (2012) Enhanced age-related cataract in copper–zinc superoxide dismutase null mice. Clin Exp Ophthalmol 40:813–820CrossRef Olofsson EM, Marklund SL, Behndig A (2012) Enhanced age-related cataract in copper–zinc superoxide dismutase null mice. Clin Exp Ophthalmol 40:813–820CrossRef
6.
Zurück zum Zitat Sun L, Xi B, Yu L, Gao XC, Shi DJ, Yan YK, Xu DJ, Han Q, Wang C (2010) Association of glutathione S-transferases polymorphisms (GSTM1 and GSTT1) with senile cataract: a meta-analysis. Invest Ophthalmol Vis Sci 51:6381–6386PubMedCrossRef Sun L, Xi B, Yu L, Gao XC, Shi DJ, Yan YK, Xu DJ, Han Q, Wang C (2010) Association of glutathione S-transferases polymorphisms (GSTM1 and GSTT1) with senile cataract: a meta-analysis. Invest Ophthalmol Vis Sci 51:6381–6386PubMedCrossRef
7.
Zurück zum Zitat Bhagyalaxmi SG, Srinivas P, Barton KA, Kumar KR, Vidyavathi M, Petrash JM, Bhanuprakash RG, Padma T (2009) A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract. Biochim Biophys Acta 1792:974–981PubMedCrossRef Bhagyalaxmi SG, Srinivas P, Barton KA, Kumar KR, Vidyavathi M, Petrash JM, Bhanuprakash RG, Padma T (2009) A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract. Biochim Biophys Acta 1792:974–981PubMedCrossRef
9.
Zurück zum Zitat Asbell PA, Dualan I, Mindel J, Brocks D, Ahmad M, Epstein S (2005) Age-related cataract. Lancet 365:599–609PubMedCrossRef Asbell PA, Dualan I, Mindel J, Brocks D, Ahmad M, Epstein S (2005) Age-related cataract. Lancet 365:599–609PubMedCrossRef
11.
Zurück zum Zitat Risa O, Saether O, Lofgren S, Soderberg PG, Krane J, Midelfart A (2004) Metabolic changes in rat lens after in vivo exposure to ultraviolet irradiation: measurements by high resolution MAS 1H NMR spectroscopy. Invest Ophthalmol Vis Sci 45:1916–1921PubMedCrossRef Risa O, Saether O, Lofgren S, Soderberg PG, Krane J, Midelfart A (2004) Metabolic changes in rat lens after in vivo exposure to ultraviolet irradiation: measurements by high resolution MAS 1H NMR spectroscopy. Invest Ophthalmol Vis Sci 45:1916–1921PubMedCrossRef
12.
Zurück zum Zitat Kim J, Kim CS, Sohn E, Kim H, Jeong IH, Kim JS (2010) Lens epithelial cell apoptosis initiates diabetic cataractogenesis in the Zucker diabetic fatty rat. Graefes Arch Clin Exp Ophthalmol 248:811–818PubMedCrossRef Kim J, Kim CS, Sohn E, Kim H, Jeong IH, Kim JS (2010) Lens epithelial cell apoptosis initiates diabetic cataractogenesis in the Zucker diabetic fatty rat. Graefes Arch Clin Exp Ophthalmol 248:811–818PubMedCrossRef
13.
Zurück zum Zitat Truscott RJ (2005) Age-related nuclear cataract-oxidation is the key. Exp Eye Res 80:709–725PubMedCrossRef Truscott RJ (2005) Age-related nuclear cataract-oxidation is the key. Exp Eye Res 80:709–725PubMedCrossRef
14.
Zurück zum Zitat Pendergrass W, Penn P, Possin D, Wolf N (2005) Accumulation of DNA, nuclear and mitochondrial debris, and ROS at sites of age-related cortical cataract in mice. Invest Ophthalmol Vis Sci 46:4661–4670PubMedCrossRef Pendergrass W, Penn P, Possin D, Wolf N (2005) Accumulation of DNA, nuclear and mitochondrial debris, and ROS at sites of age-related cortical cataract in mice. Invest Ophthalmol Vis Sci 46:4661–4670PubMedCrossRef
15.
Zurück zum Zitat Zhang Y, Zhang L, Song Z, Sun DL, Liu HR, Fu SB, Liu DR, Liu P (2012) Genetic polymorphisms in DNA repair genes OGG1, APE1, XRCC1, and XPD and the risk of age-related cataract. Ophthalmology 119:900–906PubMedCrossRef Zhang Y, Zhang L, Song Z, Sun DL, Liu HR, Fu SB, Liu DR, Liu P (2012) Genetic polymorphisms in DNA repair genes OGG1, APE1, XRCC1, and XPD and the risk of age-related cataract. Ophthalmology 119:900–906PubMedCrossRef
16.
Zurück zum Zitat Olinski R, Siomek A, Rozalski R, Gackowski D, Foksinski M, Guz J, Dziaman T, Szpila A, Tudek B (2007) Oxidative damage to DNA and antioxidant status in aging and age-related diseases. Acta Biochim Pol 54:11–26PubMed Olinski R, Siomek A, Rozalski R, Gackowski D, Foksinski M, Guz J, Dziaman T, Szpila A, Tudek B (2007) Oxidative damage to DNA and antioxidant status in aging and age-related diseases. Acta Biochim Pol 54:11–26PubMed
17.
Zurück zum Zitat Padma G, Mamata M, Reddy KR, Padma T (2011) Polymorphisms in two DNA repair genes (XPD and XRCC1)–association with age related cataracts. Mol Vis 17:127–133PubMedCentralPubMed Padma G, Mamata M, Reddy KR, Padma T (2011) Polymorphisms in two DNA repair genes (XPD and XRCC1)–association with age related cataracts. Mol Vis 17:127–133PubMedCentralPubMed
18.
19.
Zurück zum Zitat Bauer M, Goldstein M, Christmann M, Becker H, Heylmann D, Kaina B (2011) Human monocytes are severely impaired in base and DNA double-strand break repair that renders them vulnerable to oxidative stress. Proc Natl Acad Sci U S A 108:21105–21110PubMedCentralPubMedCrossRef Bauer M, Goldstein M, Christmann M, Becker H, Heylmann D, Kaina B (2011) Human monocytes are severely impaired in base and DNA double-strand break repair that renders them vulnerable to oxidative stress. Proc Natl Acad Sci U S A 108:21105–21110PubMedCentralPubMedCrossRef
20.
Zurück zum Zitat Pratesi N, Mangoni M, Mancini I, Paiar F, Simi L, Livi L, Cassani S, Buglione M, Grisanti S, Almici C, Polli C, Saieva C, Magrini SM, Biti G, Pazzagli M, Orlando C (2011) Association between single nucleotide polymorphisms in the XRCC1 and RAD51 genes and clinical radiosensitivity in head and neck cancer. Radiother Oncol 99:356–361PubMedCrossRef Pratesi N, Mangoni M, Mancini I, Paiar F, Simi L, Livi L, Cassani S, Buglione M, Grisanti S, Almici C, Polli C, Saieva C, Magrini SM, Biti G, Pazzagli M, Orlando C (2011) Association between single nucleotide polymorphisms in the XRCC1 and RAD51 genes and clinical radiosensitivity in head and neck cancer. Radiother Oncol 99:356–361PubMedCrossRef
21.
Zurück zum Zitat Cuneo MJ, London RE (2010) Oxidation state of the XRCC1 N-terminal domain regulates DNA polymerase beta binding affinity. Proc Natl Acad Sci U S A 107:6805–6810PubMedCentralPubMedCrossRef Cuneo MJ, London RE (2010) Oxidation state of the XRCC1 N-terminal domain regulates DNA polymerase beta binding affinity. Proc Natl Acad Sci U S A 107:6805–6810PubMedCentralPubMedCrossRef
22.
Zurück zum Zitat Wilson DR, Sofinowski TM, McNeill DR (2003) Repair mechanisms for oxidative DNA damage. Front Biosci 8:d963–d981PubMedCrossRef Wilson DR, Sofinowski TM, McNeill DR (2003) Repair mechanisms for oxidative DNA damage. Front Biosci 8:d963–d981PubMedCrossRef
23.
Zurück zum Zitat Zheng LR, Wang XF, Zhou DX, Zhang J, Huo YW, Tian H (2012) Association between XRCC1 single-nucleotide polymorphisms and infertility with idiopathic azoospermia in northern Chinese Han males. Reprod Biomed Online 25:402–407PubMedCrossRef Zheng LR, Wang XF, Zhou DX, Zhang J, Huo YW, Tian H (2012) Association between XRCC1 single-nucleotide polymorphisms and infertility with idiopathic azoospermia in northern Chinese Han males. Reprod Biomed Online 25:402–407PubMedCrossRef
24.
Zurück zum Zitat Clarkson SG, Wood RD (2005) Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal. DNA Repair (Amst) 4:1068–1074CrossRef Clarkson SG, Wood RD (2005) Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal. DNA Repair (Amst) 4:1068–1074CrossRef
25.
Zurück zum Zitat DerSimonian R, Laird N (1986) Meta-analysis in clinical trials. Control Clin Trials 7:177–188PubMedCrossRef DerSimonian R, Laird N (1986) Meta-analysis in clinical trials. Control Clin Trials 7:177–188PubMedCrossRef
26.
Zurück zum Zitat Mantel N, Haenszel W (1959) Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst 22:719–748PubMed Mantel N, Haenszel W (1959) Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst 22:719–748PubMed
27.
Zurück zum Zitat Guo MJ, Xu HF, Peng L, Zhang C, Pei LG, Yang F, Huo ZH (2013) Association of DNA repair Gene XRCC1 with senile age-related cataracts. J Ningxia Med Univ 35:493–496 Guo MJ, Xu HF, Peng L, Zhang C, Pei LG, Yang F, Huo ZH (2013) Association of DNA repair Gene XRCC1 with senile age-related cataracts. J Ningxia Med Univ 35:493–496
28.
Zurück zum Zitat Xu HF, Zhang C, Peng L, Guo MJ, Pei LG, Huo ZH (2013) Polymorphisms in DNA repair gene XPD association with age related cataracts. Ningxia Med J 35:502–504 Xu HF, Zhang C, Peng L, Guo MJ, Pei LG, Huo ZH (2013) Polymorphisms in DNA repair gene XPD association with age related cataracts. Ningxia Med J 35:502–504
29.
Zurück zum Zitat Ahmed AI, Saif MYS, Zayed AA (2012) Polymorphisms of DNA repair genes and sun exposure as predisposing factors for age related cataract. Comp Clin Pathol 21:1323–1331CrossRef Ahmed AI, Saif MYS, Zayed AA (2012) Polymorphisms of DNA repair genes and sun exposure as predisposing factors for age related cataract. Comp Clin Pathol 21:1323–1331CrossRef
30.
Zurück zum Zitat Luo YF, Wang BB, Zhou Z, Ding XC, Hu SS, Zhou GK, Ma X, Qi YH (2011) Polymorphisms of the DNA repair genes XPD and XRCC1 and the risk of age-related cataract development in Han Chinese. Curr Eye Res 36:632–636PubMedCrossRef Luo YF, Wang BB, Zhou Z, Ding XC, Hu SS, Zhou GK, Ma X, Qi YH (2011) Polymorphisms of the DNA repair genes XPD and XRCC1 and the risk of age-related cataract development in Han Chinese. Curr Eye Res 36:632–636PubMedCrossRef
31.
Zurück zum Zitat Unal M, Guven M, Batar B, Ozaydin A, Sarici A, Devranoglu K (2007) Polymorphisms of DNA repair genes XPD and XRCC1 and risk of cataract development. Exp Eye Res 85:328–334PubMedCrossRef Unal M, Guven M, Batar B, Ozaydin A, Sarici A, Devranoglu K (2007) Polymorphisms of DNA repair genes XPD and XRCC1 and risk of cataract development. Exp Eye Res 85:328–334PubMedCrossRef
32.
Zurück zum Zitat Sireesha R, Laxmi SG, Mamata M, Reddy PY, Goud PU, Rao PV, Reddy GB, Vishnupriya S, Padma T (2012) Total activity of glutathione-S-transferase (GST) and polymorphisms of GSTM1 and GSTT1 genes conferring risk for the development of age related cataracts. Exp Eye Res 98:67–74PubMedCrossRef Sireesha R, Laxmi SG, Mamata M, Reddy PY, Goud PU, Rao PV, Reddy GB, Vishnupriya S, Padma T (2012) Total activity of glutathione-S-transferase (GST) and polymorphisms of GSTM1 and GSTT1 genes conferring risk for the development of age related cataracts. Exp Eye Res 98:67–74PubMedCrossRef
34.
Zurück zum Zitat Hussien YM, Gharib AF, Awad HA, Karam RA, Elsawy WH (2012) Impact of DNA repair genes polymorphism (XPD and XRCC1) on the risk of breast cancer in Egyptian female patients. Mol Biol Rep 39:1895–1901PubMedCrossRef Hussien YM, Gharib AF, Awad HA, Karam RA, Elsawy WH (2012) Impact of DNA repair genes polymorphism (XPD and XRCC1) on the risk of breast cancer in Egyptian female patients. Mol Biol Rep 39:1895–1901PubMedCrossRef
35.
Zurück zum Zitat Jiang Z, Li C, Xu Y, Cai S, Wang X (2010) Associations between XPD polymorphisms and risk of breast cancer: a meta-analysis. Breast Cancer Res Treat 123:203–212PubMedCrossRef Jiang Z, Li C, Xu Y, Cai S, Wang X (2010) Associations between XPD polymorphisms and risk of breast cancer: a meta-analysis. Breast Cancer Res Treat 123:203–212PubMedCrossRef
36.
Zurück zum Zitat Ma Q, Qi C, Tie C, Guo Z (2013) Genetic polymorphisms of xeroderma pigmentosum group D gene Asp312Asn and Lys751Gln and susceptibility to prostate cancer: a systematic review and meta-analysis. Gene 530:309–314PubMedCrossRef Ma Q, Qi C, Tie C, Guo Z (2013) Genetic polymorphisms of xeroderma pigmentosum group D gene Asp312Asn and Lys751Gln and susceptibility to prostate cancer: a systematic review and meta-analysis. Gene 530:309–314PubMedCrossRef
Metadaten
Titel
Association between DNA repair genes (XPD and XRCC1) polymorphisms and susceptibility to age-related cataract (ARC): a meta-analysis
verfasst von
Lie-rui Zheng
Jian-jun Ma
Dang-xia Zhou
Li-feng An
Ya-qing Zhang
Publikationsdatum
01.08.2014
Verlag
Springer Berlin Heidelberg
Erschienen in
Graefe's Archive for Clinical and Experimental Ophthalmology / Ausgabe 8/2014
Print ISSN: 0721-832X
Elektronische ISSN: 1435-702X
DOI
https://doi.org/10.1007/s00417-014-2679-2

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