|
|
Genotype distribution of CDKN2B gene rs1063192 locus in primary open-angle glaucoma of the Han nationality and its relationship with rs1063192 polymorphism |
LU Yuqing1 WANG Ling2 XU Jing3 LI Lechao4 CAI Xin1▲ |
1.Department of Ophtalmology, Haian People’s Hospital, Jiangsu Province, Haian 226600, China;
2.Department of Ophtalmology, Wuxi People’s Hospital, Jiangsu Province, Wuxi 214023, China;
3.Department of Ophtalmology, Suzhou Ninth People’s Hospital, Jiangsu Province, Suzhou 215000, China;
4.Department of Neurology, Xuzhou Central Hospital, Jiangsu Province, Xuzhou 221000, China |
|
|
Abstract Objective To investigate the genotype distribution of CDKN2B gene rs1063192 locus in primary open-angle glaucoma (POAG) in the Han nationality and POAG relationship with the polymorphism of the genetic locus. Methods A total of 98 patients with POAG from Han nationality admitted to Haian People’s Hospital, Jiangsu Province (hereinafter referred to as “our hospital”) from May 2019 to 2021 were selected as the study group. The genotype distribution of CDKN2B gene rs1063192 locus in patients with different pathological characteristics was compared. Another 92 healthy subjects in our hospital at the same period were selected as the control group, the difference in genotype distribution of CDKN2B gene rs1063192 locus between the study group and the control group was compared. The relationship between rs1063192 genotype of CDKN2B gene and POAG in the Han nationality was analyzed. Results There were statistically significant differences in genotype distribution of CDKN2B gene rs1063192 locus in POAG patients with different ages, family history of glaucoma, and hypertension (P < 0.05). The genotypes of the two groups were consistent with Hardy-Weinberg genetic balance test (P > 0.05). The frequency of GG and AG genotypes at CDKN2B gene rs1063192 locus in study group were higher than that in control group, and the frequency of G allele was higher than that in control group (P < 0.05). The risk of POAG in the Han nationality with GG genotype was 3.177 times of that in the Han nationality with AA genotype, and the risk of POAG in the Han nationality with G allele was 2.751 times of that in the Han nationality with A allele (P < 0.05). Conclusion GG genotype and G allele of CDKN2B gene rs1063192 locus may be associated with the incidence of POAG in the Han nationality, and may increase the risk of POAG in the Han nationality.
|
|
|
|
|
[1] 霍妍佼,郭彦,石砚,等.单眼发病的原发性开角型青光眼黄斑脉络膜厚度及影响因素初探[J].中华眼科杂志,2021,57(3):194-200.
[2] 江方方,邢懿,姜波,等.老年女性原发性开角型青光眼的影响因素分析[J].实用老年医学,2020,34(10):1042-1045.
[3] 申尊茂,吕大光,袁淑玉,等.视网膜神经纤维层缺损对开角型青光眼的诊断价值[J].中华眼科杂志,2020,23(1):12-18.
[4] 任佑凡,谢秋菊,冯新程,等.成人24 h眼压波动与原发性开角型青光眼患病率相关性研究[J].中国实用眼科杂志,2017,35(3):285-288.
[5] 覃佐欣,谭莲,徐钰飞,等.重庆农村40岁以上人群青光眼流行病学调查[J].中华实验眼科杂志,2020,38(5):433-437.
[6] 吴娅莉,武立云,温跃春,等.OCTA对原发性开角型青光眼早期诊断的有效性研究[J].中国实验诊断学,2021, 25(11):1628-1631.
[7] 王晶,黄璐琳,林婴,等.VAV2基因多态性与原发性开角型青光眼的相关性研究[J].实用医院临床杂志,2020, 17(3):1-4.
[8] 陈强,李丹慧,江新泉,等.中国原发性开角型青光眼患病率meta分析[J].中国公共卫生,2016,32(9):1271-1275.
[9] Zukerman R,Harris A,Vercellin AV,et al. Molecular Genetics of Glaucoma:Subtype and Ethnicity Considerations [J]. Genes(Basel),2020,12(1):55.
[10] 邓利丽,孙素姣,刘艳,等. lncRNA CDKN2B-AS1对黑色素瘤B16-F10细胞恶性生物学行为的影响[J].中国肿瘤生物治疗杂志,2020,27(1):25-30.
[11] Hu Z,He C. CDKN2B gene rs1063192 polymorphism decreases the risk of glaucoma [J]. Oncotarget,2017,8(13):21167-21176.
[12] 美国眼科学会.眼科临床指南[M].北京:人民卫生出版社,2013:96-97.
[13] 李思媛,郑娟,翟玉喜,等.原发性开角型青光眼家系致病基因检测及其启动子区域甲基化的关系[J].临床眼科杂志,2021,29(1):1-4.
[14] 耿文慧,王大博,韩静.原发性开角型青光眼视野损害进展相关因素的随访研究[J].国际眼科杂志,2020,20(10):1814-1818.
[15] 莫逆,钟华.OCTA在原发性开角型青光眼中的应用[J].国际眼科杂志,2020,20(5):791-795.
[16] 张玮.昼夜血压波动与原发性开角型青光眼的关系研究[J].中国医药科学,2021,11(2):14-17.
[17] 高燕婷,张爱平,邵明希,等.补体C3基因多态性和血清水平与原发性开角型青光眼相关性的研究[J].中华检验医学杂志,2017,40(9):682-688.
[18] 朱晓博,潘雪,李冰晴,等.原发性开角型青光眼患者血清白细胞介素水平与视神经损伤的关系研究[J].中国医药,2020,15(12):943-1946.
[19] 陈迪,吴越,徐瓅,等.一原发性开角型青光眼家系相关致病基因的筛查[J].临床眼科杂志,2019,27(4):5-9.
[20] 丁喜艳,王成虎,曹国凡,等.原发性开角型青光眼一家系的基因突变和临床表型分析[J].南京医科大学学报(自然科学版),2021,41(4):604-608.
[21] 舒意,徐嘉欣,杨辰,等.TLR4基因单核苷酸多态性与中国汉族人群原发性开角型青光眼关联研究[J].中华实验眼科杂志,2020,38(8):659-664.
[22] 辛向阳,陈鹏,刘晨璐.视盘相关基因多态性与内蒙古自治区原发性开角型青光眼易感性的关系[J].中华实验眼科杂志,2018,36(4):279-283.
[23] Rathi S,Danford I,Gudiseva HV,et al. Molecular Genetics and Functional Analysis Implicate CDKN2BAS1-CDKN2B Involvement in POAG Pathogenesis [J]. Cells,2020,9(9):1934-1940.
[24] Nunes HF,Ananina G,Costa VP,et al. Investigation of CAV1/CAV2 rs4236601 and CDKN2B-AS1 rs2157719 in primary open-angle glaucoma patients from Brazil [J]. Ophthalmic Genet,2018,39(2):194-199.
[25] Moschos MM,Dettoraki M,Karekla A,et al. Polymorphism analysis of miR182 and CDKN2B genes in Greek patients with primary open angle glaucoma [J]. PLoS One,2020,15(6):233-238.
[26] Grzybowski A,Och M,Kanclerz P,et al. Primary Open Angle Glaucoma and Vascular Risk Factors:A Review of Population Based Studies from 1990 to 2019 [J]. J Clin Med,2020,9(3):761-796.
[27] Song C,Qi Y,Zhang J,et al. CDKN2B-AS1:An Indispensable Long Non-coding RNA in Multiple Diseases [J]. Curr Pharm Des,2020,26(41):5335-5346.
[28] Liu S,Chen S,Niu T. Genetic association between CDKN2B-AS1 polymorphisms and the susceptibility of primary open-angle glaucoma(POAG):a meta-analysis from 21,775 subjects [J]. Ir J Med Sci,2021,14(1):311-317. |
|
|
|