ArticleDiabetologia2014
GWAS identifies an NAT2 acetylator status tag single nucleotide polymorphism to be a major locus for skin fluorescence.
Article in Diabetologia, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 4 of them syntheses that pooled it.
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Who cites it
25 citing papers in PubMed, 4 syntheses or guidelines pooled it, 67 citations in OpenAlex.
- Effects of FOXO3 Polymorphisms on Survival to Extreme Longevity in Four Centenarian Studies.The journals of gerontology. Series A, Biological sciences and medical sciences · 2018Pooled it
- Pooled it
- New Locus for Skin Intrinsic Fluorescence in Type 1 Diabetes Also Associated With Blood and Skin Glycated Proteins.Diabetes · 2016Pooled it
- Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene.The Journal of clinical investigation · 2015Pooled it
- Skin collagen fluorophore LW-1 versus skin fluorescence as markers for the long-term progression of subclinical macrovascular disease in type 1 diabetes.Cardiovascular diabetology · 2016Trial
- Caffeine Consumption Contributes to Skin Intrinsic Fluorescence in Type 1 Diabetes.Diabetes technology & therapeutics · 2015Trial
- Blood-Based Epigenetic Aging Signatures in D3GHR Carriers: An Exploratory Pilot Study of Metabolic Adaptation and Aging-Related Pathways.International journal of molecular sciences · 2026Article
- Reference values and biological factors influencing skin autofluorescence.Frontiers in endocrinology · 2025Article
- Advanced glycation end-products, cardiac function and heart failure in the general population: The Rotterdam Study.Diabetologia · 2023Article
- Human N-acetyltransferase 2 (Frontiers in pharmacology · 2023Article
- Genome-wide association study identifies novel loci associated with skin autofluorescence in individuals without diabetes.BMC genomics · 2022Article
- Optimal Frequency of Retinopathy Screening in Adolescents With Type 1 Diabetes: Markov Modeling Approach Based on 30 Years of Data.Diabetes care · 2022Article
- Biobank Scale Pharmacogenomics Informs the Genetic Underpinnings of Simvastatin Use.Clinical pharmacology and therapeutics · 2021Article
- Skin autofluorescence predicts cancer in subjects with type 2 diabetes.BMJ open diabetes research & care · 2021Article
- Article
- Genetic Insights Into Frailty: Association of 9p21-23 Locus With Frailty.Frontiers in medicine · 2018Article
- Association of anti-inflammatory cytokine IL10 polymorphisms with motoric cognitive risk syndrome in an Ashkenazi Jewish population.Neurobiology of aging · 2017Article
- Association of Skin Intrinsic Fluorescence with Retinal Microvascular Complications of Long Term Type 1 Diabetes in the Wisconsin Epidemiologic Study of Diabetic Retinopathy.Ophthalmic epidemiology · 2017Article
- Article
- Ethnicity and skin autofluorescence-based risk-engines for cardiovascular disease and diabetes mellitus.PloS one · 2017Article
Corrections and comments
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Authors and funding
28 authors at 7 institutions in 4 countries.
Funding
Abstract
aims/hypothesisSkin fluorescence (SF) is a non-invasive marker of AGEs and is associated with the long-term complications of diabetes. SF increases with age and is also greater among individuals with diabetes. A familial correlation of SF suggests that genetics may play a role. We therefore performed parallel genome-wide association studies of SF in two cohorts.
methodsCohort 1 included 1,082 participants, 35-67 years of age with type 1 diabetes. Cohort 2 included 8,721 participants without diabetes, aged 18-90 years.
resultsrs1495741 was significantly associated with SF in Cohort 1 (p < 6 × 10(-10)), which is known to tag the NAT2 acetylator phenotype. The fast acetylator genotype was associated with lower SF, explaining up to 15% of the variance. In Cohort 2, the top signal associated with SF (p = 8.3 × 10(-42)) was rs4921914, also in NAT2, 440 bases upstream of rs1495741 (linkage disequilibrium r (2) = 1.0 for rs4921914 with rs1495741). We replicated these results in two additional cohorts, one with and one without type 1 diabetes. Finally, to understand which compounds are contributing to the NAT2-SF signal, we examined 11 compounds assayed from skin biopsies (n = 198): the fast acetylator genotype was associated with lower levels of the AGEs hydroimidazolones of glyoxal (p = 0.017). CONCLUSIONS/
interpretationWe identified a robust association between NAT2 and SF in people with and without diabetes. Our findings provide proof of principle that genetic variation contributes to interindividual SF and that NAT2 acetylation status plays a major role.
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