Evaluating the Association between Keratoconus and Reported Genetic Loci in a Han Chinese Population
Evaluating the Association between Keratoconus and Reported Genetic Loci in a Han Chinese Population
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DOI：
10.3109/13816810.2015.1005317
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发表时间：
2015-06-01
影响因子：
1.2
通讯作者：
Wang, Ye
中科院分区：
文献类型：
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作者：
Hao, Xiao-Dan;Chen, Peng;Wang, Ye
背景：圆锥角膜（KC）是一种复杂的角膜退行性疾病。遗传、环境和生活方式等因素均可能参与KC的发病。大多数报告的KC相关SNP已在高加索人和澳大利亚人中检测到。为了探讨是否可以在中国人群中发现相关的SNPs，我们进行了重复性研究的显着相关SNPs.材料和方法：共210个无关的中国KC患者和191个无关的对照被纳入本研究。SNPs rs4954218（近RAB 3GAP 1（5 '）），rs 4894535（FNDC 3B），rs 2956540（LOX），rs3735520（近HGF（5 '）），rs 1324183（MPDZ-NF1B），rs1536482（RXRA-COL5A1），rs7044529（COL5A1），rs2721051（靠近FOX 01（3 '））、rs 9938149（BANP-ZNF 469）和rs6050307（VSX 1）评估它们与KC的关联。使用Sequenom MassARRAY-Assay检测每个SNP的基因型。位于MPDZ-NF 1B的SNP rs 1324183与KC风险增加相关（OR = 3.108，95% CI = 1.366-7.072，p = 0.005），LOX基因中的SNP rs 2956540可能降低KC的风险，在我们的人群中具有临界p值（OR = 0.664，95%CI = 0.447-0.986，p = 0.042）。结论：rs 1324183（MPDZ-NF 1B）基因在本人群中的复制与KC的发生有关联性，其结果与其他人群一致，提示rs 1324183（MPDZ-NF 1B）基因是KC的一种常见遗传风险，值得进一步研究。
Background: Keratoconus (KC) is a complex degenerative disorder of the cornea. Genetic, environmental, and lifestyle factors may all contribute to the pathogenesis of KC. Most of the reported KC-associated SNPs have been detected in Caucasians and Australians. To investigate whether the reported associated SNPs can be found in a Chinese population, we performed a replication study of the significantly associated SNPs.Materials and Methods: A total of 210 unrelated Chinese KC patients and 191 unrelated controls were included in the present study. SNPs rs4954218 (Near RAB3GAP1 (5')), rs4894535 (FNDC3B), rs2956540 (LOX), rs3735520 (Near HGF (5')), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A1), rs2721051 (Near FOX01 (3')), rs9938149 (BANP-ZNF469) and rs6050307 (VSX1) were assessed for their association with KC. The genotype of each SNP was detected using the Sequenom MassARRAY-Assay.Results: SNP rs1324183 located in MPDZ-NF1B was associated with an increased risk of KC (OR = 3.108, 95% CI = 1.366-7.072, p = 0.005), and SNP rs2956540 in the LOX gene may confer a reduced risk of KC with a borderline p value in our population (OR = 0.664, 95% CI = 0.447-0.986, p = 0.042). No significant difference was observed between patients and controls in the other eight SNP genotypes and allele frequencies.Conclusions: The replication association of rs1324183 (MPDZ-NF1B) with KC in our population and the results, which are identical to those in different populations, suggest that rs1324183 (MPDZ-NF1B) is a common genetic risk for KC and should be further investigated.