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Genetic insight into putative causes of xanthelasma palpebrarum: a Mendelian randomization study.

ABSTRACT: Xanthelasma palpebrarum (XP) is the most common form of cutaneous xanthoma, with a prevalence of 1.1%~4.4% in the population. However, the cause of XP remains largely unknown. In the present study, we used Mendelian randomization to assess the genetic association between plasma lipids, metabolic traits, and circulating protein with XP, leveraging summary statistics from large genome-wide association studies (GWAS). Genetically predicted plasma cholesterol and LDL-C, but not HDL-C or triglyceride, were significantly associated with XP. Metabolic traits, including BMI, fasting glucose, type 2 diabetes, systolic and diastolic blood pressure, were not significantly associated with XP. Furthermore, we found genetically predicted 12 circulating proteins were associated with XP, including FN1, NTM, FCN2, GOLM1, ICAM5, PDE5A, C5, CLEC11A, CXCL1, CCL2, CCL11, CCL13. In conclusion, this study identified plasma cholesterol, LDL-C, and 12 circulating proteins to be putative causal factors for XP, highlighting the role of plasma cholesterol and inflammatory response in XP development.

SUBMITTER: Hu W

PROVIDER: S-EPMC11004296 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature

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Genetic insight into putative causes of xanthelasma palpebrarum: a Mendelian randomization study.

Hu Wenting W Liu Yaozhong Y Lian Cuihong C Lu Haocheng H

Frontiers in immunology 20240327

Xanthelasma palpebrarum (XP) is the most common form of cutaneous xanthoma, with a prevalence of 1.1%~4.4% in the population. However, the cause of XP remains largely unknown. In the present study, we used Mendelian randomization to assess the genetic association between plasma lipids, metabolic traits, and circulating protein with XP, leveraging summary statistics from large genome-wide association studies (GWAS). Genetically predicted plasma cholesterol and LDL-C, but not HDL-C or triglyceride ...[more]

PMID: 38601164

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Project description:Xanthelasma palpebrarum is the most common type of xanthomatous lesion. Various methods for treating Xanthelasma palpebrarum have been reported. We conducted a systematic review to evaluate the efficacy and associated complications of different treatment methods, and we summarized these findings as a practical review designed to be clinically useful, accessible, and impactful.MethodsThe PubMed and Embase databases were searched to identify clinical studies that reported on outcomes and complications of different methods of Xanthelasma treatment. The electronic databases were searched from January 1990 to October 2022. Data on study characteristics, lesion clearance, complications, and recurrences were collected.ResultsForty-nine articles (including 1329 patients) were reviewed. The studies reported on surgical excision, laser modalities, electrosurgical techniques, chemical peeling, cryotherapy, and intralesional injection. The majority of studies were retrospective (69%) and single-arm (84%). Surgical excision combined with blepharoplasty and skin grafts showed excellent outcomes for large Xanthelasma. CO2 and erbium yttrium aluminum garnet (Er:YAG) were the most commonly studied lasers and showed more than 75% improvement in over 90% and 80% of patients, respectively. Comparative studies reported better efficacy for CO2 laser than both Er:YAG laser and 30%-50% trichloroacetic acid. Dyspigmentation was the most encountered complication.ConclusionsDifferent methods for the treatment of Xanthelasma palpebrarum have been reported in the literature, with moderate to excellent efficacy and safety profiles depending on the size and location of the lesion. Surgery is more appropriate for larger and deeper lesions, whereas laser and electrosurgical techniques can be used in smaller and more superficial contexts. Only a limited number of comparative studies have been conducted, and novel clinical trials are necessary to further augment appropriate treatment selection.

Project description:BackgroundAntioxidants attracted long-standing attention as promising preventive agents worldwide. Previous observational studies have reported that circulating antioxidants are associated with reduced mortality; however, randomized clinical trials indicate neutral or harmful impacts. The association of long-term circulating antioxidant exposure with longevity is still unclear.ObjectivesWe aim to determine whether long-term circulating antioxidant exposure is causally associated with longevity in the general population using the two-sample Mendelian randomization (MR) design.MethodsGenetic instruments for circulating antioxidants (ascorbate, lycopene, selenium, beta-carotene, and retinol) and antioxidant metabolites (ascorbate, alpha-tocopherol, gamma-tocopherol, and retinol) were identified from the largest up-to-date genome-wide association studies (GWASs). Summary statistics of these instruments with individual survival to the 90th vs. 60th percentile age (11,262 cases and 25,483 controls) and parental lifespan (N = 1,012,240 individuals) were extracted. The causal effect was estimated using the inverse-variance weighted method in the main analysis and complemented by multiple sensitivity analyses to test the robustness of results.ResultsWe found that genetically determined higher concentration of circulating retinol (vitamin A) metabolite was casually associated with a higher odds of longevity (OR, 1.07; 95% CI, 1.02-1.13; P < 0.01) and increased parental lifespan (lifespan years per 10-fold increase: 0.17; 95% CI, 0.07-0.27; P < 0.01). Present evidence did not support a causal impact of circulating ascorbate (vitamin C), tocopherol (vitamin E), lycopene, selenium or beta-carotene on life expectancy. No evidence was identified to show the pleiotropic effects had biased the results.ConclusionsLong-term higher exposure to retinol metabolite is causally associated with longevity in the general population. Future MR analyses could assess the current findings further by utilizing additional genetic variants and greater samples from large-scale GWASs.

Dataset Information

Genetic insight into putative causes of xanthelasma palpebrarum: a Mendelian randomization study.

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Genetic insight into putative causes of xanthelasma palpebrarum: a Mendelian randomization study.

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