Exome Array Analysis of Nuclear Lens Opacity.
Exome Array Analysis of Nuclear Lens Opacity.
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DOI：
10.1080/09286586.2017.1406122
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发表时间：
2018-06
影响因子：
1.8
通讯作者：
Duggal P
中科院分区：
文献类型：
--
作者：
Loomis SJ;Klein AP;Lee KE;Chen F;Bomotti S;Truitt B;Iyengar SK;Klein R;Klein BEK;Duggal P
Nuclear cataract is the most common subtype of age-related cataract, the leading cause of blindness worldwide. It results from advanced nuclear sclerosis, or opacity in the center of the optic lens, and is affected by both genetic and environmental risk factors, including smoking. We sought to understand the genetic factors associated with nuclear sclerosis through interrogation of rare and low frequency coding variants using exome array data. We analyzed Illumina Human Exome Array data for 1,488 participants of European ancestry in the Beaver Dam Eye Study who were without cataract surgery for association with nuclear sclerosis grade, controlling for age and sex. We performed single-variant regression analysis for 32,138 variants with minor allele frequency (MAF) ≥0.003. In addition, gene-based analysis of 11,844 genes containing at least two variants with MAF < 0.05 was performed using a gene-based unified burden and non-burden sequence kernel association test (SKAT-O). Additionally, both single-variant and gene-based analyses were analyzed stratified by smoking status. No single-variant test was statistically significant after Bonferroni correction (p < 1.6 × 10−6; top single nucleotide polymorphism (SNP): rs144458991, p = 2.83 × 10−5). Gene-based tests were suggestively associated with the gene RNF149 overall (p = 8.29 × 10−6) and among never smokers (N = 790, p = 2.67 × 10−6). This study did not find a significant genetic association with nuclear sclerosis, the possible association with the RNF149 gene highlights a potential candidate gene for future studies that aim to understand the genetic architecture of nuclear sclerosis.
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影响因子：
13.7
作者：
Yonova-Doing E;Forkin ZA;Hysi PG;Williams KM;Spector TD;Gilbert CE;Hammond CJ
通讯作者：
Hammond CJ
影响因子：
3.5
作者：
Liao, Jiemin;Su, Xinyi;Cheng, Ching-Yu
通讯作者：
Cheng, Ching-Yu
年龄相关性核性白内障中 CRYAA 的下调和 CpG 岛高甲基化
影响因子：
4.8
作者：
Zhou, Peng;Luo, Yi;Lu, Yi
通讯作者：
Lu, Yi
影响因子：
4.1
作者：
Pascolini, Donatella;Mariotti, Silvio Paolo
通讯作者：
Mariotti, Silvio Paolo
影响因子：
--
作者：
Klein, BEK;Klein, R;Lee, KE
通讯作者：
Lee, KE