Association of genetic variants with primary angle closure glaucoma in two different populations.
Association of genetic variants with primary angle closure glaucoma in two different populations.
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DOI：
10.1371/journal.pone.0067903
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Craig JE
中科院分区：
文献类型：
--
作者：
Awadalla MS;Thapa SS;Hewitt AW;Burdon KP;Craig JE
最近的一项大型全基因组关联研究 (GWAS) 发现了与原发性闭角型青光眼 (PACG) 相关的多种变异。本研究调查了这些变异在从澳大利亚和尼泊尔招募的两个 PACG 队列中的作用。 PACG 患者和适当的对照患者是从澳大利亚（n=232 例和 n=288 对照）和尼泊尔（n=106 例和 204 对照）眼科诊所招募的。选择单核苷酸多态性 (SNP) rs3753841 (COL11A1)、rs1015213（位于 PCMTD1 和 ST18 之间）、rs11024102 (PLEKHA7) 和 rs3788317 (TXNRD2)，并在 Sequenom 上进行基因分型。使用 PLINK 和 METAL 进行分析。调整年龄和性别后，发现 SNP rs3753841 与澳大利亚队列中的 PACG 显着相关（p = 0.017；OR = 1.34）。 SNP rs1015213 (p = 0.014；OR 2.35) 和 rs11024102 (p = 0.039；OR 1.43) 与尼泊尔队列中的疾病发展显着相关。这些 SNP 均未经过 Bonferroni 校正 (p = 0.05/4 = 0.013)。然而，在综合分析中，两个队列的 rs3753841 和 rs1015213 显示出与 p 值分别为 0.009 和 0.004 的显着相关性，均在 Bonferroni 校正中幸存。 SNP rs11024102 显示与 PACG 存在关联（p 值 0.035），但未发现与 rs3788317 存在关联。目前的结果支持了最初的 GWAS 研究结果，并证实了 SNP 对 PACG 的贡献。这是第一项调查澳大利亚白种人和尼泊尔人群中这些基因座的研究。
A recent large genome-wide association study (GWAS) identified multiple variants associated with primary angle-closure glaucoma (PACG). The present study investigated the role of these variants in two cohorts with PACG recruited from Australia and Nepal. Patients with PACG and appropriate controls were recruited from eye clinics in Australia (n = 232 cases and n = 288 controls) and Nepal (n = 106 cases and 204 controls). Single nucleotide polymorphisms (SNPs) rs3753841 (COL11A1), rs1015213 (located between PCMTD1 and ST18), rs11024102 (PLEKHA7), and rs3788317 (TXNRD2) were selected and genotyped on the Sequenom. Analyses were conducted using PLINK and METAL. After adjustment for age and sex, SNP rs3753841 was found to be significantly associated with PACG in the Australian cohort (p = 0.017; OR = 1.34). SNPs rs1015213 (p = 0.014; OR 2.35) and rs11024102 (p = 0.039; OR 1.43) were significantly associated with the disease development in the Nepalese cohort. None of these SNPs survived Bonferroni correction (p = 0.05/4 = 0.013). However, in the combined analysis, of both cohorts, rs3753841 and rs1015213 showed significant association with p-values of 0.009 and 0.004, respectively both surviving Bonferroni correction. SNP rs11024102 showed suggestive association with PACG (p-value 0.035) and no association was found with rs3788317. The present results support the initial GWAS findings, and confirm the SNP’s contribution to PACG. This is the first study to investigate these loci in both Australian Caucasian and Nepalese populations.
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影响因子：
17.8
作者：
Salmon, JF
通讯作者：
Salmon, JF
影响因子：
1.4
作者：
Thapa, Suman S.;Paudyal, Indira;van Rens, Ger H. M. B.
通讯作者：
van Rens, Ger H. M. B.
影响因子：
4
作者：
Thapa, Suman S.;Rana, Pooja P.;van Rens, Ger
通讯作者：
van Rens, Ger
影响因子：
4.1
作者：
Foster, PJ;Buhrmann, R;Johnson, GJ
通讯作者：
Johnson, GJ
影响因子：
13.7
作者：
Thapa, Suman S.;Paudyal, Indira;van Rens, Ger H. M. B.
通讯作者：
van Rens, Ger H. M. B.