虹膜色素病变:揭示虹膜雀斑和痣的遗传基础。

IF 5 2区 医学 Q1 OPHTHALMOLOGY
Julia Boldu-Roig, Elena Sorli-Clemente, Aida Kuljuh-Causevic, Alba Loras, Alfonso Anton, Conrado Martinez-Cadenas
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引用次数: 0

摘要

目的:探讨人类虹膜色素良性病变的多样性,为法医、生物医学和眼科研究提供参考。方法:对1014名西班牙后裔进行队列分析。使用数码缝灯照片来评估虹膜色素沉着特征,包括虹膜雀斑、虹膜痣、虹膜颜色和有色素的结膜的存在。对这些色素沉着性状进行了候选基因关联研究。结果:虹膜雀斑和痣与年龄、女性、眼圈色素和眼睛颜色(以绿色为主)有关。此外,在面部雀斑和皮肤痣较多的参与者中,观察到更高的雀斑和痣计数,并且它们之间呈正相关。调整后,我们发现虹膜雀斑的存在与IRF4、HERC2和OCA2基因以及SLC45A2基因的遗传变异之间存在显著正相关,尽管仅在女性中存在。虹膜痣的患病率明显低于雀斑。虹膜痣的存在也显示出与IRF4和HERC2的遗传变异呈正相关,仅在棕色眼睛的个体中存在TYR。MC1R,主要的皮肤雀斑基因,与虹膜雀斑或痣的存在没有关联。结论:虹膜雀斑和痣的遗传基础揭示了与已知的色素沉着基因(特别是IRF4)以及眼睛颜色、性别和年龄有关。这些发现有助于我们了解虹膜色素良性病变及其在葡萄膜黑色素瘤、年龄相关性黄斑变性或日光损伤等疾病中的潜在意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Iris Pigmented Lesions: Unraveling the Genetic Basis of Iris Freckles and Nevi.

Purpose: To investigate the diversity of pigmented benign lesions in the human iris, aiming to provide insights for forensic, biomedical, and ophthalmological research.

Methods: A cohort of 1014 individuals of Spanish descent was analyzed. Digital slit-lamp photographs were used to evaluate iris pigmentation traits, including iris freckles, iris nevi, iris color, and the presence of a pigmented collarette. A candidate gene association study was performed on these pigmentation traits.

Results: Both iris freckles and nevi were associated with increased age, female sex, pigmented collarette, and eye color (mainly green). Additionally, higher freckle and nevus counts were observed in participants with more facial freckles and cutaneous nevi and were positively associated with each other. After adjustment, a positive significant association was identified between the presence of iris freckles and genetic variants in the IRF4, HERC2, and OCA2 genes, as well as SLC45A2, although only in females. The prevalence of iris nevi was significantly lower compared to freckles. The presence of iris nevi also showed positive associations with genetic variants in IRF4 and HERC2, plus TYR in brown-eyed individuals only. No association was identified between MC1R, the major cutaneous freckle gene, and the presence of iris freckles or nevi.

Conclusions: The genetic basis of iris freckles and nevi reveals associations with well-known pigmentation genes (particularly IRF4), as well as eye color, sex, and age. These findings contribute to our understanding of iris pigmented benign lesions and their potential implications in conditions such as uveal melanoma, age-related macular degeneration, or solar damage.

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来源期刊
CiteScore
6.90
自引率
4.50%
发文量
339
审稿时长
1 months
期刊介绍: Investigative Ophthalmology & Visual Science (IOVS), published as ready online, is a peer-reviewed academic journal of the Association for Research in Vision and Ophthalmology (ARVO). IOVS features original research, mostly pertaining to clinical and laboratory ophthalmology and vision research in general.
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