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GlossaryGenetic Variants (DNA Polymorphisms)

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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research The Gene for Autosomal Dominant Hidrotic Ectodermal Dysplasia (Clouston Syndrome) in a Large Indian Family Maps to the 13q11-q12.1 Pericentromeric Region

39 citations, July 1997 in “American Journal of Medical Genetics”

The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.

research DNA Phenotyping: Current Application in Forensic Science

11 citations, February 2019 in “Research and reports in forensic medical science”

DNA phenotyping helps predict physical traits from DNA with varying accuracy and requires careful ethical and legal handling.

Cloning of the Human Phenol Sulfotransferase Gene Family: Three Genes Implicated in the Metabolism of Catecholamines, Thyroid Hormones, and Drugs

research Cloning of the Human Phenol Sulfotransferase Gene Family: Three Genes Implicated in the Metabolism of Catecholamines, Thyroid Hormones, and Drugs

26 citations, February 1998 in “Chemico-Biological Interactions”

Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.

research Association of mtDNA M/N Haplogroups with Systemic Lupus Erythematosus: A Case-Control Study of Han Chinese Women

11 citations, June 2015 in “Scientific Reports”

The mtDNA N haplogroup is linked to a higher risk of late-onset lupus and specific symptoms in Han Chinese women.

research Vitamin D Resistance: Tissue Resistance to Vitamin D and Vitamin D-Dependent Rickets Types I and II

13 citations, April 1994 in “Baillière's clinical endocrinology and metabolism”

Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.

Cutaneous Malignant Melanoma Incidences Analyzed Worldwide by Skin Type Over Advancing Age of Males and Females: Evidence Estrogen and Androgenic Hair Are Risk Factors

research Cutaneous Malignant Melanoma Incidences Analyzed Worldwide by Skin Type Over Advancing Age of Males and Females: Evidence Estrogen and Androgenic Hair Are Risk Factors

3 citations, December 2016 in “Journal of epidemiological research”

Estrogen and androgenic hair increase melanoma risk, especially in European-ancestry individuals.

research Cutaneous and Mucosal Lichen Planus: A Comprehensive Review of Clinical Subtypes, Risk Factors, Diagnosis, and Prognosis

291 citations, January 2014 in “The Scientific World Journal”

Lichen Planus is a less common condition affecting skin and mucous membranes, with various types and associated risk factors, challenging to diagnose, significantly impacts life quality, and may have a risk of cancerous changes in oral lesions.

research Hair Coloration by Gene Regulation: Fact or Fiction?

15 citations, November 2015 in “Trends in biotechnology”

Gene regulation could revolutionize hair color by altering pigmentation from within.

research Cross-Species Amplification of Human Microsatellite Markers in Pig-Tailed and Stump-Tailed Macaques

1 citations, June 2011 in “Journal of Genetics”

Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.

research Improving Human Forensics Through Advances in Genetics, Genomics, and Molecular Biology

383 citations, February 2011 in “Nature Reviews Genetics”

DNA profiling in forensics has improved, but predicting physical traits and ancestry from DNA has limitations and requires ethical consideration.

research Two Mutations at KRT74 and EDAR Synergistically Drive the Fine-Wool Production in Chinese Sheep

2 citations, May 2023 in “Journal of Advanced Research”

Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.

research Polymorphism in the A2M Gene Associated with High-Quality Milk in Murrah Buffaloes (Bubalus Bubalis)

5 citations, January 2016 in “Genetics and molecular research”

Certain genetic variations in the A2M gene are linked to better milk quality in Murrah buffaloes.

Intraethnic Variation in Steroid-5-Alpha-Reductase Polymorphisms in Prostate Cancer Patients: A Potential Factor Implicated in 5-Alpha-Reductase Inhibitor Treatment

research Intraethnic Variation in Steroid-5-Alpha-Reductase Polymorphisms in Prostate Cancer Patients: A Potential Factor Implicated in 5-Alpha-Reductase Inhibitor Treatment

4 citations, June 2015 in “Journal of Genetics/Journal of genetics”

Genetic differences within ethnic groups may affect prostate cancer treatment effectiveness.

Androgen Receptor (AR) Gene (CAG)n and (GGN)n Length Polymorphisms and Symptoms in Young Males With Long-Lasting Adverse Effects After Finasteride Use Against Androgenic Alopecia

research Androgen Receptor (AR) Gene (CAG)n and (GGN)n Length Polymorphisms and Symptoms in Young Males With Long-Lasting Adverse Effects After Finasteride Use Against Androgenic Alopecia

14 citations, December 2016 in “Sexual Medicine”

Finasteride side effects in young men may be linked to specific gene variations.

research Modulation of Genomic and Postgenomic Alterations in Non-Cancer Diseases and Critical Periods of Life

9 citations, October 2008 in “Mutation research”

N-acetyl-L-cysteine (NAC) can prevent DNA damage and protect cells from harm.

research Differential Proteomics of Lesional vs. Non-Lesional Biopsies Revealed Non-Immune Mechanisms of Alopecia Areata

19 citations, January 2018 in “Scientific Reports”

Non-immune factors play a significant role in alopecia areata.

research A Meta-Analysis on the Relationship Between Hair Dye and the Incidence of Non-Hodgkin’s Lymphoma

6 citations, December 2018 in “Medical principles and practice”

Using hair dye may slightly increase the risk of non-Hodgkin's lymphoma, especially with long-term use.

research Nitric Oxide: Physiological Functions, Delivery, and Biomedical Applications

10 citations, August 2023 in “Advanced Science”

Nitric Oxide has potential in medicine, especially for infections and heart treatments, but its short life and delivery challenges limit its use.

research Evaluation of the Predictive Capacity of DNA Variants Associated with Straight Hair in Europeans

36 citations, September 2015 in “Forensic Science International: Genetics”

Certain DNA variants can predict straight hair in Europeans but are not highly specific.

research Investigations of 13 Genes in Non-Cicatricial Alopecia

August 2023

DNA analysis can help tailor alopecia treatment.

research Human KAP Genes: Only Half of It? Extensive Size Polymorphisms in Hair Keratin-Associated Protein Genes

53 citations, June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology”

KAP genes show significant genetic variability, but its impact on hair traits is unclear.

research Montagna Symposium 2013: Light and Skin - How Light Sustains, Damages, Treats, Images, and Modifies Skin Biology

1 citations, July 2014 in “The journal of investigative dermatology/Journal of investigative dermatology”

Light affects skin health, aging, and cancer risk, and new light-based treatments and imaging are promising for skin care.

research Application of Multi-Omics Techniques to Androgenetic Alopecia: Current Status and Perspectives

June 2024 in “Computational and Structural Biotechnology Journal”

Multi-omics techniques help understand the molecular causes of androgenetic alopecia.

research Androgen Receptor Polymorphisms (CAG Repeat Lengths) in Androgenetic Alopecia, Hirsutism, and Acne

186 citations, July 1998 in “Journal of Cutaneous Medicine and Surgery”

Shorter CAG repeats may cause hair and skin issues, while longer ones may link to acne.

research Predicting Human Appearance from DNA for Forensic Investigations

5 citations, September 2016 in “Security science and technology”

DNA can predict physical traits like eye and hair color accurately, especially in Europeans, but predicting other traits and in diverse populations needs more research.