Genetic and environmental factors in conjunctival UV autofluorescence.
Genetic and environmental factors in conjunctival UV autofluorescence.
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DOI：
10.1001/jamaophthalmol.2014.5627
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发表时间：
2015-04
影响因子：
8.1
通讯作者：
Mackey DA
中科院分区：
文献类型：
--
作者：
Yazar S;Cuellar-Partida G;McKnight CM;Quach-Thanissorn P;Mountain JA;Coroneo MT;Pennell CE;Hewitt AW;MacGregor S;Mackey DA
结膜紫外线自发荧光（CUVAF）作为一个客观的生物标志物的太阳照射有很好的潜力。然而，在CUVAF中观察到许多变化，并且基因和环境对这种变化的相对贡献尚未被确定。CUVAF摄影技术被开发用于检测和评估临床前日光诱导的眼损伤。眼部阳光照射与翼状胬肉有关，最近也与近视呈负相关。我们研究了CUVAF变异的来源及其潜在的临床相关性。三项基于人群的队列研究的横断面分析：塔斯马尼亚双胞胎眼科研究、布里斯班青少年双胞胎研究和西澳大利亚妊娠队列（Raine）研究。一般社区。来自塔斯马尼亚和布里斯班双胞胎研究的295个澳大利亚家庭和来自雷恩研究20年随访的661名参与者。仅包括具有可用基因型数据的个体。我们比较了三个队列的CUVAF水平，并进行了一项经典的双胞胎研究，以划分CUVAF的变化。我们还进行了全基因组关联分析，以确定与CUVAF相关的特定遗传变异。全基因组关联研究中CUVAF的总面积、CUVAF的遗传度以及与CUVAF相关的单核苷酸多态性（SNPs）。在双胞胎队列中，居住在赤道附近（27.47° S）的个体的CUVAF水平高于南部地区（42.88° S）的个体（中位数为45.2vs 28.7 mm 2）（p<0.001）。加性遗传成分解释了37%（95%置信区间[CI]，22%-50%）的CUVAF变异，而50%（95%CI; 29%-71%）是由于共同的环境。SNP rs 1060043位于距离SLC 1A 5基因（溶质载体家族1的成员）约800 bp处，具有全基因组显著相关性，p值为3.2 × 10−8。基于基因的分析并没有提高我们检测与其他基因相关性的能力。我们的研究结果证实，虽然CUVAF（=阳光照射）有很大的环境因素，但基因也起着重要作用。我们确定了一个SNP（rs 1060043）与CUVAF显著相关;在未来的研究中重复这一发现是必要的。
Conjunctival ultraviolet autofluorescence (CUVAF) has excellent potential as an objective biomarker of sun exposure. However, much variation in CUVAF is observed and the relative contribution of genes and environment to this variation has not yet been identified. CUVAF photography was developed to detect and characterise pre-clinical sunlight-induced ocular damage. Ocular sun exposure has been related to cases of pterygia and also recently negatively correlated with myopia. We investigated sources of variation in CUVAF in relation to its potential clinical relevance. Cross-sectional analysis of three population-based cohort studies: Twins Eye Study in Tasmania, Brisbane Adolescent Twin Study and Western Australian Pregnancy Cohort (Raine) Study. General community. 295 Australian families from the Tasmanian and Brisbane twin studies and 661 participants from the 20-year follow-up of the Raine Study. Only individuals with available genotype data were included. We compared the CUVAF levels in three cohorts and performed a classical twin study to partition variation in CUVAF. We also conducted a genome-wide association analysis to identify specific genetic variants associated with CUVAF. The total area of CUVAF, heritability of CUVAF and single nucleotide polymorphisms (SNPs) associated with CUVAF from genome-wide association study. Within twin cohorts, individuals living closer to the equator (27.47° S) had higher levels of CUVAF compared to individuals from southern regions (42.88° S) (median of 45.2vs 28.7 mm2) (p<0.001). The additive genetic component explained 37% (95% confidence interval [CI], 22%–50%) of the variation in CUVAF while 50% (95%CI; 29%–71%) was due to the common environment. The SNP rs1060043 located approximately 800bp away from the SLC1A5 gene, a member of the solute carrier family 1, had a genome-wide significant association with a p-value of 3.2 × 10−8. Gene-based analysis did not improve our power to detect association with other genes. Our findings confirm that while there is a large environmental component to CUVAF (= sun exposure), genes also play a significant role. We identified a SNP (rs1060043) as being significantly associated with CUVAF; replication of this finding in future studies is warranted.