Extended Association Study of PLEKHA7 and COL11A1 With Primary Angle Closure Glaucoma in a Han Chinese Population
Extended Association Study of PLEKHA7 and COL11A1 With Primary Angle Closure Glaucoma in a Han Chinese Population
复制标题
PLEKHA7 和 COL11A1 与中国汉族人群原发性闭角型青光眼的扩展关联研究
DOI：
10.1167/iovs.14-14370
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发表时间：
2014-06-01
影响因子：
4.4
通讯作者：
Sun, Xinghuai
中科院分区：
文献类型：
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作者：
Chen, Yuhong;Chen, Xueli;Sun, Xinghuai
目的。目的探讨中国汉族人群中PLEKHA7和COL11A1基因与原发性闭角型青光眼及其急、慢性亚型的关系。方法：共收集了984例原发性闭角型青光眼(PACG)和378例原发性闭角型青光眼(PAC)，并与922例正常对照进行了比较。对PLEKHA7基因和COL11A12基因的12个单核苷酸多态性(rs1676486、rs3753841、rs12138977、rs2126642、rs2622848、rs216489、rs1027617、rs366590、rs11024060、rs6486330、rs11024097和rs11024102)进行了基因分型。结果：COL11A1基因的rs1676486(P=0.0060)和rs12138977(P=0.028)，以及PLEKHA7的rs216489(P=0.0074)和rs11024102(P=0.038)等4个SNP与PAC/PACG有统计学意义的关联。在亚组分析中，6个SNPs(rs1676486、rs3753841、rs12138977、rs216489、rs11024060和rs11024102)在急性PAC/PACG患者和对照组之间差异有统计学意义。结论COL11A1基因rs1676486和rs12138977以及PLEKHA7基因rs216489和rs11024102与中国汉族人PAC/PACG发病风险增加相关，支持了COL11A1和PLEKH7与闭角型青光眼相关的报道。COL11A1和PLEKHA7都被证明是急性PAC/PACG的重要危险因素。需要进一步的工作来证实COL11A1和PLEKHA7在青光眼发病机制中的重要性。
PURPOSE. To investigate the association of PLEKHA7 and COL11A1 with primary angle closure glaucoma, as well as acute and chronic subphenotype, in a Han Chinese population.METHODS. A total of 984 cases, including 606 primary angle closure glaucoma (PACG) and 378 primary angle closure (PAC), and 922 normal controls were recruited. Twelve single nucleotide polymorphisms (SNPs) (rs1676486, rs3753841, rs12138977, rs2126642, rs2622848, rs216489, rs1027617, rs366590, rs11024060, rs6486330, rs11024097, and rs11024102) in the PLEKHA7 gene and COL11A12 gene were genotyped. Distributions of allele frequencies were compared between cases and controls as well as in patient subgroups with or without acute attacks.RESULTS. Four of the 12 SNPs, including rs1676486 (P = 0.0060) and rs12138977 (P = 0.028) in COL11A1, as well as rs216489 (P = 0.0074) and rs11024102 (P = 0.038) in PLEKHA7, were found to have a statistically significant association with PAC/PACG. In the subgroup analysis, 6 out of 12 SNPs (rs1676486, rs3753841, rs12138977, rs216489, rs11024060, and rs11024102) showed statistically significant differences between acute PAC/PACG cases and controls. However, none of them showed statistically significant differences between chronic PAC/PACG cases and controls.CONCLUSIONS. Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 and rs11024102 in PLEKHA7 are associated with an increased risk of PAC/PACG in the Han Chinese population, supporting prior reports of the association of COL11A1 and PLEKH7 with angle closure glaucoma. Both COL11A1 and PLEKHA7 were shown to confer significant risk for acute PAC/PACG. Further work is necessary to confirm the importance of COL11A1 and PLEKHA7 in the pathogenesis of glaucoma.