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首页> 外文期刊>Human Genetics >Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33
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Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33

机译：宾夕法尼亚州近极岩体的基因组扫描Amish家族揭示了与12Q15，8Q21.3和5P15.33的显着联系

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摘要

Myopia is one of the most common ocular disorders in the world, yet the genetic etiology of the disease remains poorly understood. Specialized founder populations, such as the Pennsylvania Amish, provide the opportunity to utilize exclusive genomic architecture, like unique haplotypes, to better understand the genetic causes of myopia. We perform genetic linkage analysis on Pennsylvania Amish families that have a strong familial history of myopia to map any potential causal variants and genes for the disease. 293 individuals from 25 extended families were genotyped on the Illumina ExomePlus array and merged with previous microsatellite data. We coded myopia affection as a binary phenotype; myopia was defined as having a mean spherical equivalent (MSE) of less than or equal to -1 D (diopters). Two-point and multipoint parametric linkage analyses were performed under an autosomal dominant model. When allowing for locus heterogeneity, we identified two novel genome-wide significantly linked variants at 12q15 (heterogeneity LOD, HLOD=3.77) in PTPRB and at 8q21.3 (HLOD=3.35) in CNGB3. We identified further three genome-wide significant variants within a single family. These three variants were located in exons of SLC6A18 at 5p15.33 (LODs ranged from 3.51 to 3.37). Multipoint analysis confirmed the significant signal at 5p15.33 with six genome-wide significant variants (LODs ranged from 3.6 to 3.3). Further suggestive evidence of linkage was observed in several other regions of the genome. All three novel linked regions contain strong candidate genes, especially CNGB3 on 8q21.3, which has been shown to affect photoreceptors and cause complete color blindness. Whole genome sequencing on these regions is planned to conclusively elucidate the causal variants.
机译：近视是世界上最常见的眼部疾病之一，但该疾病的遗传病程仍然明白很差。专门的创始人，如宾夕法尼亚州的群体，提供了利用独家基因组建筑，如独特的单倍型，更好地了解近视的遗传原因。我们对宾夕法尼亚州的遗传联系分析进行宾夕法尼亚州的近视家族，近视的强烈家族史，以映射疾病的任何潜在的因果变形和基因。 293个来自25个大家庭的个人在Illumina ExomePlus阵列上进行了基因分型，并与以前的微卫星数据合并。我们用二元表型编写了近视的近视;近视被定义为具有小于或等于-1d（屈光度）的平均球形等效物（MSE）。在常染色体显性模型下进行两点和多点参数连杆分析。当允许基因座异质性时，我们在PTPRB的12Q15（异质性LOD，HLOD = 3.77）中鉴定了两种新的基因组 - 宽显着连接的变体，在CNGB3中在8Q21.3（HLOD = 3.35）中。我们在一个家庭内鉴定了另外三种基因组宽的显着变体。这三种变体位于5p15.33的SLC6A18的外显子（LOD为3.51至3.37）。多点分析证实了5p15.33的显着信号，具有六种基因组的显着变体（LOD范围为3.6至3.3）。在基因组的几个其他区域中观察到有关联动的进一步提示迹象。所有三个新颖的联系区域含有强烈的候选基因，特别是CNGB3，在8Q21.3上，已被证明会影响光感受器并引起完全的色盲。计划在这些区域上进行全基因组测序以结束阐明因果变形。

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  • 来源
    《Human Genetics》 |2019年第4期|共16页
  • 作者

    Musolf Anthony M.; Simpson Claire L.; Alexander Theresa A.; Portas Laura; Murgia Federico; Ciner Elise B.; Stambolian Dwight; Bailey-Wilson Joan E.;

  • 作者单位

    NHGRI Computat &

    Stat Genom Branch NIH 333 Cassell Dr Suite 1200 Baltimore MD 21224 USA;

    NHGRI Computat &

    Stat Genom Branch NIH 333 Cassell Dr Suite 1200 Baltimore MD 21224 USA;

    NHGRI Computat &

    Stat Genom Branch NIH 333 Cassell Dr Suite 1200 Baltimore MD 21224 USA;

    NHGRI Computat &

    Stat Genom Branch NIH 333 Cassell Dr Suite 1200 Baltimore MD 21224 USA;

    NHGRI Computat &

    Stat Genom Branch NIH 333 Cassell Dr Suite 1200 Baltimore MD 21224 USA;

    Salus Univ Penn Coll Optometry Elkins Pk PA USA;

    Univ Penn Dept Ophthalmol Philadelphia PA 19104 USA;

    NHGRI Computat &

    Stat Genom Branch NIH 333 Cassell Dr Suite 1200 Baltimore MD 21224 USA;

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  • 正文语种 eng
  • 中图分类 医学遗传学;
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