9 citations
,
August 2013 in “PLOS ONE” This study validated that the 20p11 genetic locus is associated with increased risk of androgenic alopecia in the Chinese Han population, suggesting shared genetic factors between Chinese and European populations.
January 2025 in “Nutrients” In this study, researchers found that specific genetic variations at loci rs1160312, rs6113491, and rs1041668 are independent risk factors for androgenetic alopecia in men, and these risks can be influenced by diet.
20 citations
,
March 2021 in “Cancers” This study found that rare germline pathogenic variants in BRCA2, BRCA1, and ATM are associated with increased risk of aggressive prostate cancer.
September 2023 in “Nature Communications” In this study, the researchers found that rare genetic variants make a minor contribution to male-pattern hair loss risk, identifying five significant gene associations, including novel genes, and noting a shared basis with monogenic hair loss disorders.
48 citations
,
May 2015 in “PLOS ONE” This study found that a genetic test using 5 to 20 SNPs can predict male pattern baldness with variable accuracy in European men, especially those aged 50 and older.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
January 2020 in “Columbia Academic Commons (Columbia University)” This study utilized targeted genomic sequencing and whole exome sequencing to identify novel common and rare genetic variants in Alopecia Areata, revealing potential mechanisms contributing to disease susceptibility.
21 citations
,
January 2018 in “PLoS Genetics” This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.
6 citations
,
February 2013 in “Medical Oncology” In this study, researchers reported that the SHBG +5790 G>A polymorphism was associated with an increased risk of developing resistance to hormonal castration in advanced prostate cancer patients.
January 2024 in “Biomarker Insights” This study found significant associations between PCOS susceptibility and specific genetic variants in the APOA5 and PLIN1 genes among Western Saudi women, identifying novel alleles and genotypes that may influence PCOS risk and related clinical characteristics.
50 citations
,
May 2018 in “International journal of cardiology” This study found associations between genetic predictors of increased testosterone and cardiovascular risk factors, but the implications for testosterone supplementation are unclear due to uncertainties in genetic variant functions.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identifies gene-regulatory networks related to genetic variants in skin and hair diseases, suggesting that dermal papilla cells are crucial in androgenetic alopecia.
September 2022 in “Translational Andrology and Urology” This study found that in young men with post-finasteride syndrome, there are potential genetic risk factors associated with psychological and sexual dysfunctions, suggesting genetic screening may be beneficial before prescribing finasteride.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.
This study found that mutations in the PADI3 gene, which is important for hair shaft formation, may contribute to central centrifugal cicatricial alopecia among patients.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
December 2021 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Men can have genetic risks for PCOS-related traits like obesity and diabetes.
47 citations
,
April 2021 in “BMC Medical Genomics” This systematic review and meta-analysis reported potential risk variants for acne in genes related to inflammation and sebaceous gland function, including TNF, CYP17A1, and FST, across diverse populations.
December 2004 in “SUNScholar (Stellenbosch University)” This study suggests that identified polymorphisms may serve as markers for assessing an individual's risk of developing prostate cancer.
23 citations
,
December 2013 in “Journal of Investigative Dermatology Symposium Proceedings” This study highlights rapid advances in alopecia areata treatment following the identification of genetic variants associated with increased disease risk, suggesting potential for precision medicine approaches.
133 citations
,
February 2017 in “PLoS Genetics” In this study, researchers used genetic data from over 52,000 men to identify over 250 genetic loci associated with severe hair loss and developed a predictive algorithm for determining hair loss risk.
57 citations
,
November 2006 in “International Journal of Cancer” This study found that the SRD5A2 A49T A variant is associated with an increased risk of prostate cancer, lower circulating 3α‐diolG levels, and a decreased risk of baldness.
29 citations
,
February 2018 in “Genetics research international” This review summarizes the influence of gene polymorphisms on genetic predisposition to polycystic ovary syndrome, but reports no new experimental or clinical results.
10 citations
,
January 2023 in “Skin Appendage Disorders” This review discusses the histological features and diagnostic challenges of alopecia areata and emphasizes the need for genetic research to develop future therapeutics; it reports no new clinical findings.
7 citations
,
July 2020 in “Immunological Investigations” This study observed that the rs231775 CTLA4 genetic variant was more prevalent in Alopecia Areata patients than controls, particularly among those with severe disease.
4 citations
,
October 2023 in “African Journal of Urology” This study found that hypospadias in male children is significantly associated with genetic polymorphisms in the Steroid 5 alpha reductase type 2 gene, higher parental age, consanguinity, rural residence, and preterm labor, with maternal age and rural residence being the strongest independent predictors.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
7 citations
,
January 2021 in “The journal of gene medicine” Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.
26 citations
,
September 2020 in “Journal of the European Academy of Dermatology and Venereology” This publication is a letter discussing the association between an androgen receptor genetic variant and COVID-19 disease severity in hospitalized male patients, but it reports no new research results.
November 2025 in “American Journal of Case Reports” This case report describes a child with acrodermatitis enteropathica and normal zinc levels who developed Kaposi's varicelliform eruption, highlighting the role of novel SLC39A4 variants and the importance of early zinc supplementation and antiviral prophylaxis.