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GAS7基因中的多态性rs11656696与沙特人群中的原发性开角型青光眼无关。

Polymorphism rs11656696 in GAS7 Is Not Associated with Primary Open Angle Glaucoma in a Saudi Cohort.

作者信息

Kondkar Altaf A, Azad Taif A, Almobarak Faisal A, Kalantan Hatem, Sultan Tahira, Al-Obeidan Saleh A, Abu-Amero Khaled K

机构信息

1 Department of Ophthalmology, College of Medicine, King Saud University , Riyadh, Saudi Arabia .

2 Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago , Chicago, Illinois.

出版信息

Genet Test Mol Biomarkers. 2017 Dec;21(12):754-758. doi: 10.1089/gtmb.2017.0147. Epub 2017 Oct 12.

Abstract

AIMS

To conduct a case-control study to investigate the association between the polymorphism rs11656696 located in the growth arrest-specific 7 gene (GAS7)on human chromosome 17p13.1 and primary open angle glaucoma (POAG).

METHODS

The polymorphism rs11656696 was genotyped using the TaqMan assay in 187 subjects comprising 92 unrelated POAG cases and 95 controls of Saudi Arabian origin.

RESULTS

Association analysis between cases and controls revealed no significant genotype distribution under additive (p = 0.225), dominant (p = 0.635), or recessive (p = 0.085) models. Moreover, the allele frequency distribution was also nonsignificant (p = 0.70). The minor "A" allele frequency was 0.35 and 0.41 among POAG cases and controls, respectively. In addition, specific clinical indices used to assess severity of glaucoma such as intraocular pressure (IOP), cup/disk ratio, and number of antiglaucoma medications also did not show any significant genotype distribution in POAG cases. Moreover, a binary logistic regression analysis did not show any significant effect of age, sex, or genotype on disease outcome.

CONCLUSION

Polymorphism rs11656696 is not associated with POAG nor any of its endophenotypic traits such as IOP and cup/disk ratio and is thus not a risk factor for POAG in this Saudi cohort.

摘要

目的

开展一项病例对照研究,以调查人类17号染色体p13.1上生长停滞特异性7基因(GAS7)中的rs11656696多态性与原发性开角型青光眼(POAG)之间的关联。

方法

采用TaqMan分析对187名受试者的rs11656696多态性进行基因分型,其中包括92例无亲缘关系的POAG病例和95名沙特阿拉伯裔对照。

结果

病例与对照之间的关联分析显示,在加性(p = 0.225)、显性(p = 0.635)或隐性(p = 0.085)模型下,基因型分布无显著差异。此外,等位基因频率分布也无显著差异(p = 0.70)。POAG病例和对照中次要“A”等位基因频率分别为0.35和0.41。此外,用于评估青光眼严重程度的特定临床指标,如眼压(IOP)、杯盘比和抗青光眼药物数量,在POAG病例中也未显示出任何显著的基因型分布。此外,二元逻辑回归分析未显示年龄、性别或基因型对疾病结局有任何显著影响。

结论

rs11656696多态性与POAG及其任何内表型特征(如IOP和杯盘比)均无关联,因此在该沙特人群中不是POAG的危险因素。

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