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    Glossary Genetic Variants

    differences in DNA sequence among individuals

    Genetic variants, also known as genetic polymorphisms, are differences in the DNA sequence among individuals. These variations can affect how genes function and can influence traits such as hair color, susceptibility to diseases like alopecia, and response to medications. While some genetic variants have no impact on health, others can be significant in understanding genetic predispositions and developing personalized medical treatments.

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    1. Genetic Variants at 20p11 Confer Risk to Androgenetic Alopecia in the Chinese Han Population PLOS ONE · 2013 · 9 citations
    2. Genetic Variants and Lifestyle Factors in Androgenetic Alopecia Patients: A Case–Control Study of Single Nucleotide Polymorphisms and Their Contribution to Baldness Risk Nutrients · 2025
    3. Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer Cancers · 2021 · 20 citations
    4. Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss Nature Communications · 2023
    5. Evaluation of DNA Variants Associated with Androgenetic Alopecia and Their Potential to Predict Male Pattern Baldness PLOS ONE · 2015 · 48 citations
    6. Utilizing functional genomics approaches to characterize risk genes in alopecia areata Columbia Academic Commons (Columbia University) · 2020
    7. Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice bioRxiv (Cold Spring Harbor Laboratory) · 2018
    8. Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay PLoS Genetics · 2018 · 21 citations
    9. Genetic variants in AR and SHBG and resistance to hormonal castration in prostate cancer Medical Oncology · 2013 · 6 citations
    10. Genetic Association Between Polycystic Ovary Syndrome and the <i>APOA5</i> rs662799 and <i>PLIN1</i> rs894160 Metabolic Variants in the Western Saudi Population: A Case-Control Study Biomarker Insights · 2024
    11. Genetic predictors of testosterone and their associations with cardiovascular disease and risk factors: A Mendelian randomization investigation International journal of cardiology · 2018 · 50 citations
    12. Integrated single-cell chromatin and transcriptomic analyses of human scalp reveal etiological insights into genetic risk for hair and skin disease bioRxiv (Cold Spring Harbor Laboratory) · 2022
    13. Case report: a study of the clinical characteristics and genetic variants of post-finasteride syndrome patients Translational Andrology and Urology · 2022
    14. Deciphering the pathogenesis of central centrifugal cicatricial alopecia 2019
    15. 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia Journal of Investigative Dermatology · 2019
    16. PLCD1 and Pilar Cysts 2019 · 5 citations
    17. What Is the Male Polycystic Ovary Syndrome Phenotype? 2021
    18. Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis BMC Medical Genomics · 2021 · 47 citations
    19. Genetic analysis of the role of androgen metabolism in the pathogenesis of prostate cancer SUNScholar (Stellenbosch University) · 2004
    20. The Genetic Architecture of Alopecia Areata Journal of Investigative Dermatology Symposium Proceedings · 2013 · 23 citations
    21. Genetic prediction of male pattern baldness PLoS Genetics · 2017 · 133 citations
    22. 5α-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia International Journal of Cancer · 2006 · 57 citations
    23. Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology Genetics research international · 2018 · 29 citations
    24. Alopecia Areata: A Review of the Genetic Variants and Immunodeficiency Disorders Associated with Alopecia Areata Skin Appendage Disorders · 2023 · 10 citations
    25. Association of Rs231775 Genetic Variant of Cytotoxic T-lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case–Control Study Immunological Investigations · 2020 · 7 citations
    26. Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study African Journal of Urology · 2023 · 4 citations
    27. A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation 2019 · 21 citations
    28. Androgen receptor genetic variant predicts COVID‐19 disease severity: a prospective longitudinal study of hospitalized COVID‐19 male patients Journal of the European Academy of Dermatology and Venereology · 2020 · 26 citations
    29. The impact of certain genetic variants (single nucleotide polymorphisms) on incidence and severity of COVID‐19 ˜The œjournal of gene medicine · 2021 · 7 citations
    30. Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption American Journal of Case Reports · 2025