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Glossary Genotype

genetic composition influencing traits and characteristics

Genotype refers to the genetic makeup of an organism, specifically the set of genes it carries. It determines various traits and characteristics, such as eye color or susceptibility to certain diseases, by influencing how the organism's cells function and develop. For example, in the context of hair, a person's genotype can influence whether they are predisposed to conditions like alopecia.

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5-Alpha-Reductase Type 2 Deficiency: Is There a Genotype-Phenotype Correlation? A Review

research 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review

39 citations , April 2018 in “Hormones”

This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.

research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia

35 citations , April 2014 in “American Journal of Medical Genetics”

The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.

research Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous

5 citations , May 2022 in “Diagnostics”

This study found that certain lncRNA gene polymorphisms in HOTAIR and MALAT1 are associated with increased susceptibility to systemic lupus erythematosus, potentially informing clinical applications.

research A Genome-Wide Association Study and Machine-Learning Algorithm Analysis on the Prediction of Facial Phenotypes by Genotypes in Korean Women

5 citations , March 2022 in “Clinical Cosmetic and Investigational Dermatology”

This study proposed a model that accurately predicts skin condition using genotype information and machine learning, suggesting potential for creating customized cosmetics.

Case-Only Trees and Random Forests for Exploring Genotype-Specific Treatment Effects in Randomized Clinical Trials with Dichotomous End Points

research Case-Only Trees and Random Forests for Exploring Genotype-Specific Treatment Effects in Randomized Clinical Trials with Dichotomous End Points

5 citations , July 2019 in “Applied statistics/Journal of the Royal Statistical Society. Series C, Applied statistics”

In this study, applying case-only trees and random forests to a prostate cancer prevention trial revealed genotypes that may influence the efficacy of finasteride for prostate cancer prevention.

research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin

4 citations , October 2003 in “Annales de Génétique”

This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.

Genotyping Of The Rs1800440 Polymorphism In CYP1B1 Gene And The Rs9258883 Polymorphism In HLA-B Gene In A Spanish Cohort Of 223 Patients With Frontal Fibrosing Alopecia

research Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia

1 citations , September 2023 in “Acta dermato-venereologica”

In this study, researchers found that most patients with frontal fibrosing alopecia lacked the protective rs1800440 polymorphism in the CYP1B1 gene, suggesting its potential role in the development of this condition, while a significant number carried the rs9258883 polymorphism in HLA-B*07:02.

Genotypes of Single-Nucleotide Polymorphisms on DENND1A in Association with Polycystic Ovary Syndrome Among Saudi Arabian Females

research Genotypes of Single-nucleotide polymorphisms on DENND1A in an association with polycystic ovary syndrome among Saudi Arabian females

July 2025

This study reported a significant association between the SNP rs2479106 in the DENND1A gene and PCOS in Saudi Arabian females, while no association was found for SNPs rs10818854 and rs10986105.

research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing

June 2025 in “Molecular Genetics & Genomic Medicine”

This study found that among children with 21-hydroxylase deficiency, there is a strong correlation between severe genetic variants and clinical outcomes, but the correlation weakens with milder variants, indicating the limitations of relying solely on NGS for diagnosis.

research Genotypic and Phenotypic Study of PDCD4 gene Concerning micro RNA-21 and micro RNA-449b Polymorphism in Breast Cancer

January 2025 in “Iraqi Journal of Science”

This study found that variations in the genes PDCD4, miR-21, and miR-449b may significantly influence breast cancer progression, with higher PDCD4 serum levels linked to increased breastfeeding.

research Sexual transmission of a new emerging dermatophyte: T. Mentagrophytes genotype VII

January 2025 in “Journal of the European Academy of Dermatology and Venereology”

This study highlights that Trichophyton mentagrophytes genotype VII, primarily transmitted sexually among men who have sex with men, has established itself in Europe, necessitating awareness and surveillance to prevent its spread.

research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

15 citations , February 2014 in “PloS one”

This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.

research Distinct genotype-phenotype patterns in non-syndromic hereditary hypotrichosis: a multicenter Chinese cohort

September 2026 in “British Journal of Dermatology”

This study identified 11 genes associated with non-syndromic hereditary hypotrichosis in a Chinese cohort and proposed a preliminary framework for phenotype-driven candidate-gene prioritization to aid clinical evaluation.

Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report

research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report

January 2026 in “Genes”

This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.

research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations

September 2022 in “Indian Journal of Paediatric Dermatology”

This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.

research GENOTYPE ? PHENOTYPE CORRELATIONS IN CUTANEOUS MELANOMA PATIENTS CARRIER OF THE MITF p.E318K PATHOGENIC VARIANT

May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)”

This study found that patients with the MITF p.E318K variant are more likely to develop multiple primary melanomas and dysplastic nevi with uncommon dermoscopic patterns compared to non-carriers.

research Genotype score associated with the risk of androgenetic alopecia.

December 2015 in “PLOS Genetics”

This study reports no new clinical results as it focuses on risk score analysis using top SNPs identified in genome-wide significant loci.

research Superior Root Hair Formation Confers Root Efficiency in Some, But Not All, Rice Genotypes upon P Deficiency

66 citations , December 2016 in “Frontiers in Plant Science”

This study found that rice genotypes exhibit significant variation in root hair properties under low phosphorus conditions, with genotype DJ123 showing particularly efficient root hair growth and phosphorus uptake.

research Optimal processing for proteomic genotyping of single human hairs

30 citations , May 2020 in “Forensic Science International Genetics”

This study found that optimizing proteomic genotyping conditions from single human hair samples significantly improves the detection of genetically variant peptides, enhancing human identification with high precision across different biogeographic backgrounds.

research HSD3B1 Genotypes Conferring Adrenal-Restrictive and Adrenal-Permissive Phenotypes in Prostate Cancer and Beyond

30 citations , July 2019 in “Endocrinology”

This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.

CYP21A2 Genotypes Do Not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia

research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia

14 citations , January 2013 in “Hormone and Metabolic Research”

This study found that in patients with nonclassical 21-hydroxylase deficiency, genotypes do not reliably predict the severity of hyperandrogenic symptoms, suggesting other genetic factors may influence the phenotype.

research A population pharmacokinetic model for individualized regimens of finasteride according to CYP3A5 genotype and liver function

October 2023 in “Journal of pharmaceutical investigation”

In this study, researchers found that among healthy Korean males, the clearance of finasteride was about 34% lower in individuals with the CYP3A5*3 homozygous allele compared to other genotypes, suggesting dosage adjustments may be necessary considering CYP3A5 and ALT levels to avoid adverse effects.

research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2

May 2015 in “Journal of Dermatological Science”

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

In Situ Labeling of DNA Reveals Interindividual Variation in Nuclear DNA Breakdown in Hair and May Be Useful to Predict Success of Forensic Genotyping of Hair

research In situ labeling of DNA reveals interindividual variation in nuclear DNA breakdown in hair and may be useful to predict success of forensic genotyping of hair

27 citations , April 2011 in “International journal of legal medicine”

This study reports that the completeness of DNA degradation in hair during cornification varies among individuals and affects the success rates of forensic hair DNA analysis.

research Influence of NUDT15 Genotyping on Dose Intensity of Thiopurine Administration and Long-Term Clinical Outcomes (Hospitalization and Surgery)

August 2023 in “Research Square (Research Square)”

This study found that among patients with inflammatory bowel disease, those with the NUDT15 mutation had a reduced tolerance for thiopurine dosage over the long term and were more likely to require hospitalization and surgery compared to those without the mutation.

research Evidence that mirex promotes a unique population of epidermal cells that cannot be distinguished by their mutant Ha-ras genotype

10 citations , September 1997 in “Molecular carcinogenesis”

This study found that mirex and TPA promote papilloma formation in CD-1 mouse skin through distinct populations of mutant Ha-ras cells, resulting in additive tumor yields.