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GlossaryGenotype-Phenotype Correlations

relationship between genes and observable traits

Genotype-Phenotype Correlations refer to the relationship between an individual's genetic makeup (genotype) and their observable traits (phenotype). For example, in the context of hair, certain genotypes might be linked to traits like hair color, texture, or susceptibility to conditions like alopecia. Understanding these correlations helps scientists predict how genetic variations can manifest as physical characteristics or health conditions.

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Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review

research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature

11 citations , January 2020 in “BMC pediatrics”

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

Ichthyosis Follicularis With Atrichia And Photophobia (IFAP) Syndrome: A Study On Genetic Mutation In A Japanese Patient

research Letter from Brisbane [Letters to editor]

January 2011 in “Journal of Human Genetics”

A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.

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

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

Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.

research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b

4 citations , December 2013 in “The Journal of Dermatology”

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

research Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review

January 2024 in “Biomedicines”

The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.

research Signature selection analysis reveals candidate genes associated with production traits in Iranian sheep breeds

55 citations , December 2021 in “BMC Veterinary Research”

Certain genes in Iranian sheep are linked to wool production and heat adaptation.

research Thehairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype

52 citations , October 1999 in “Developmental Dynamics”

Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.

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”

Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.

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”

The model accurately predicts skin conditions in Korean women using genetic information, aiding personalized skincare.

research Relationship of Early-Onset Baldness to Prostate Cancer in African-American Men

21 citations , March 2013 in “Cancer Epidemiology, Biomarkers & Prevention”

Early-onset baldness is linked to a higher risk of aggressive prostate cancer in African-American men, especially before age 60.

research Advances in the genetic understanding of hypohidrotic ectodermal dysplasia

1 citations , November 2017 in “Expert opinion on orphan drugs”

Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.

research Filaggrin mutations as an archetype for understanding the pathophysiology of atopic dermatitis

3 citations , August 2014 in “Journal of The American Academy of Dermatology”

Filaggrin mutations are linked to atopic dermatitis and help explain how genetics and environment affect the disease.

research W locus alleles of the KIT Gene in Turkish Van Cats and Their Association with Certain Phenotypes

November 2022 in “Van Sağlık Bilimleri Dergisi”

Turkish Van cats' genotypes don't affect traits like eye color or hair length.

Characterization of X-Linked Hypohidrotic Ectodermal Dysplasia Hair and Sweat Gland Phenotypes Using Phototrichogram Analysis and Live Confocal Imaging

research Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging

15 citations , May 2013 in “American Journal of Medical Genetics - Part A”

People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.

research Association of follicle-stimulating hormone receptor gene ser680 asn (rs6166) polymorphism with polycystic ovarian syndrome

4 citations , January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology”

A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.

research Evaluation of DNA Variants Associated with Androgenetic Alopecia and Their Potential to Predict Male Pattern Baldness

48 citations , May 2015 in “PLOS ONE”

DNA variants can predict male pattern baldness, with higher risk scores increasing baldness likelihood.

Elevated Dehydroepiandrosterone Sulfate Levels as the Reproductive Phenotype in the Brothers of Women with Polycystic Ovary Syndrome

research Elevated Dehydroepiandrosterone Sulfate Levels as the Reproductive Phenotype in the Brothers of Women with Polycystic Ovary Syndrome

27 citations , May 2002 in “The Journal of Clinical Endocrinology & Metabolism”

Brothers of women with PCOS tend to have higher levels of a hormone called DHEAS, indicating a possible genetic link.

research The Trotter collection: A review of Mildred Trotter's hair research and an update for studies of human variation

April 2024 in “American Journal of Biological Anthropology”

Hair traits vary widely and are not reliable indicators of ancestry.

research Lipin 1 Gene Polymorphisms in Polycystic Ovary Syndrome

7 citations , March 2011 in “Hormone and Metabolic Research”

Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.

Baldness And The Androgen Receptor: The AR Polyglycine Repeat Polymorphism Does Not Confer Susceptibility To Androgenetic Alopecia

research Baldness and the androgen receptor: the AR polyglycine repeat polymorphism does not confer susceptibility to androgenetic alopecia

60 citations , January 2007 in “Human Genetics”

AR polyglycine repeat doesn't cause baldness.

research Genetic variation in the ovine KAP22-1 gene and its effect on wool traits in Egyptian sheep

3 citations , August 2022 in “Archives animal breeding/Archiv für Tierzucht”

Certain genetic changes in the KAP22-1 gene are linked to better wool quality in Egyptian sheep.

research Are STK11 polymorphisms a predictor of the response to metformin in polycystic ovarian syndrome?

June 2022 in “Biomedical reports”

STK11 gene variations do not predict how well metformin will work for PCOS, but may affect hair loss and excess hair growth.

Anti-Müllerian Hormone Gene Polymorphism Is Associated With Androgen Levels in Chinese Polycystic Ovary Syndrome Patients With Insulin Resistance

research Anti-Müllerian hormone gene polymorphism is associated with androgen levels in Chinese polycystic ovary syndrome patients with insulin resistance

12 citations , January 2016 in “Journal of Assisted Reproduction and Genetics”

Certain gene variations are linked to higher male hormone levels in Chinese women with PCOS and insulin resistance.

research Graham Little-Piccardi-Lassueur syndrome associated with androgen insensitivity syndrome (testicular feminization)

22 citations , June 2004 in “Journal of The European Academy of Dermatology and Venereology”

A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.

research Abstracts

2 citations , January 2019 in “Medizinische Genetik”

The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.

Nonclassic Congenital Adrenal Hyperplasia: Pathophysiology, Genetics, and Management

research Nonclassic congenital adrenal hyperplasia

30 citations , June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity”

Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.

Vitamin D Receptor Polymorphisms and Polycystic Ovary Syndrome: A Systematic Review

research Vitamin D receptor polymorphisms and the polycystic ovary syndrome: A systematic review

36 citations , January 2017 in “Journal of Obstetrics and Gynaecology Research”

The review found no clear link between vitamin D receptor gene variations and polycystic ovary syndrome.

The Impact of Vitamin D Receptor Gene Polymorphisms (FokI, ApaI, TaqI) in Correlation with Oxidative Stress and Hormonal and Dermatologic Manifestations in Polycystic Ovary Syndrome

research The Impact of Vitamin D Receptor Gene Polymorphisms (FokI, ApaI, TaqI) in Correlation with Oxidative Stress and Hormonal and Dermatologic Manifestations in Polycystic Ovary Syndrome

September 2024 in “Medicina”

Certain gene variations may protect against skin issues and oxidative stress in women with PCOS.

research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix

4 citations , August 2013 in “Chinese Medical Journal”

A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.

research Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature

6 citations , December 2015 in “International journal of immunopathology and pharmacology”

AE can have varied symptoms and genetic causes, but zinc therapy helps.