Myopia in African Americans Is Significantly Linked to Chromosome 7p15.2-14.2.
Myopia in African Americans Is Significantly Linked to Chromosome 7p15.2-14.2.
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DOI：
10.1167/iovs.62.9.16
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发表时间：
2021-07-01
影响因子：
4.4
通讯作者：
Stambolian D
中科院分区：
文献类型：
--
作者：
Simpson CL;Musolf AM;Cordero RY;Cordero JB;Portas L;Murgia F;Lewis DD;Middlebrooks CD;Ciner EB;Bailey-Wilson JE;Stambolian D
本研究的目的是对高度聚集的非致病性近视非裔美国家庭的外显子组基因分型进行遗传连锁分析和关联分析。非裔美国人是近视研究特别少的人群。使用 Illumina ExomePlus 阵列对来自费城地区有近视家族史的 106 个非裔美国家庭进行基因分型，并与之前的微卫星数据合并。近视最初以平均球镜当量 (MSE) 进行测量，并转换为二元表型，其中个体被识别为受影响、未受影响或未知。对单个变异（单核苷酸多态性 [SNP] 和微卫星）以及基于基因的标记进行了参数连锁分析。还进行了基于家族的关联分析和针对罕见变异修改的传递不平衡测试（TDT）分析。遗传连锁分析在 7p15.2 和 7p14.2（位于 MIR148A 和 NFE2L3 之间的基因间区域以及非编码 RNA LOC401324 中）确定了 2 个全基因组显着变异，并在 7p14.3 确定了 2 个全基因组显着基因（CRHR2 和 AVL9）。关联分析中未发现全基因组结果。这项研究在 7p15.2 至 7p14.2 发现了非裔美国人家庭近视的显着连锁峰值，这是非裔美国人近视的第一个潜在风险位点。有趣的候选基因位于该区域，包括 PDE1C，它在眼睛中高度表达，并且已知与视网膜发育有关。进一步鉴定该连锁峰的因果变异将有助于阐明这一未被充分研究的人群中近视的遗传学。
The purpose of this study was to perform genetic linkage analysis and association analysis on exome genotyping from highly aggregated African American families with nonpathogenic myopia. African Americans are a particularly understudied population with respect to myopia. One hundred six African American families from the Philadelphia area with a family history of myopia were genotyped using an Illumina ExomePlus array and merged with previous microsatellite data. Myopia was initially measured in mean spherical equivalent (MSE) and converted to a binary phenotype where individuals were identified as affected, unaffected, or unknown. Parametric linkage analysis was performed on both individual variants (single-nucleotide polymorphisms [SNPs] and microsatellites) as well as gene-based markers. Family-based association analysis and transmission disequilibrium test (TDT) analysis modified for rare variants was also performed. Genetic linkage analysis identified 2 genomewide significant variants at 7p15.2 and 7p14.2 (in the intergenic region between MIR148A and NFE2L3 and in the noncoding RNA LOC401324) and 2 genomewide significant genes (CRHR2 and AVL9) both at 7p14.3. No genomewide results were found in the association analyses. This study identified a significant linkage peak in African American families for myopia at 7p15.2 to 7p14.2, the first potential risk locus for myopia in African Americans. Interesting candidate genes are located in the region, including PDE1C, which is highly expressed in the eyes, and known to be involved in retinal development. Further identification of the causal variants at this linkage peak will help elucidate the genetics of myopia in this understudied population.
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DOI：
10.1093/bioinformatics/btt017
发表时间：
2013-03-01
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Douville C;Carter H;Kim R;Niknafs N;Diekhans M;Stenson PD;Cooper DN;Ryan M;Karchin R
通讯作者：
Karchin R
Cep85 的表征 - 一种新的 Nek2A 拮抗剂，参与中心体分离的调节
影响因子：
4
作者：
Chen C;Tian F;Lu L;Wang Y;Xiao Z;Yu C;Yu X
通讯作者：
Yu X
影响因子：
--
作者：
Kleinstein, RN;Jones, LA;Zadnik, K
通讯作者：
Zadnik, K
影响因子：
9.8
作者：
Hammond, CJ;Andrew, T;Spector, TD
通讯作者：
Spector, TD
影响因子：
3.5
作者：
Bryan, John M.;Fufa, Temesgen D.;McGaughey, David M.
通讯作者：
McGaughey, David M.