77 citations
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April 2009 in “British Journal of Dermatology” In this study, genetic variation in the CYP19A1 gene, particularly the common rs4646 C allele, was associated with an increased risk of female pattern hair loss, especially in women under 40.
June 2026 in “Archives of Dermatological Research” In this study, the rs4541843 G > A variant was found to be significantly associated with increased risk and severity of alopecia areata, as well as elevated expression of hsa-miR-182-5p, suggesting their potential as molecular markers for diagnosis and severity assessment.
4 citations
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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.
43 citations
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November 2018 in “Nature Communications” This genome-wide association study identified 20 genetic signals at 15 risk loci related to severe acne, revealing new insights into its genetic predisposition, particularly affecting skin structure and maintenance.
14 citations
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February 2017 in “Scientific Reports” Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
3 citations
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January 2018 in “Postępy Dermatologii i Alergologii” This study suggests that SRD5A2 polymorphisms may increase the risk of acne in individuals with normal serum testosterone levels, particularly in the Chinese population.
September 2023 in “Journal of International Medical Research” This study found that metformin increased follicle-stimulating hormone levels and decreased kisspeptin concentrations in Iraqi women with polycystic ovary syndrome, with gene variations potentially influencing treatment response.
37 citations
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June 2004 in “Human molecular genetics online/Human molecular genetics” This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.
15 citations
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August 2013 in “Gene” This study found that the MTHFR gene C677T mutation appears to be a susceptibility factor for alopecia areata in the Turkish population.
1 citations
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January 2020 in “Benha Journal of Applied Sciences” This study found that DEFB1 polymorphisms, specifically the rs1800972 CG and GG genotypes, may predict susceptibility to and severity of alopecia areata.
12 citations
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September 2021 in “PLoS ONE” In this study, researchers found that interaction between transcription factor EBF1 and gene WNT10A, influenced by a genetic variant, may play a role in hair shaft formation and anagen shortening in male pattern baldness.
4 citations
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December 2012 in “Human Biology” In this study, researchers found that two dominant haplotypes in the EDA2R/AR intergenic region have likely been shaped by demographic changes and selection during human evolution, particularly notable in African and non-African populations.
January 2015 in “Indian Journal of Medical Biochemistry” Men with early balding should be checked for metabolic syndrome, as there's a link between the two.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a germline variant in PLCD1 as a major risk allele for familial trichilemmal cysts, requiring a subsequent somatic mutation in the same allele for cyst formation.
April 2017 in “Journal of Investigative Dermatology” This study found that the PON1 192 R allele was associated with an increased risk of psoriasis and altered lipid profiles in patients from Western Mexico.
January 2012 in “Faculty of Health; Institute of Health and Biomedical Innovation” This study found six new genetic factors linked to early-onset androgenetic alopecia and its association with increased risk of Parkinson's disease and decreased fertility.
15 citations
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January 2010 in “Reproduction, Fertility and Development” This study found that Han Chinese women carrying the rs6152A allele had a significantly higher risk of developing polycystic ovary syndrome compared to those with the rs6152GG genotype.
24 citations
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January 2008 in “KARGER eBooks” This review discusses recent advances in understanding the pathogenesis of autoimmune alopecia areata and reports no new clinical results; it highlights potential for developing more effective treatments.
9 citations
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September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” This study found that men without prostate cancer carrying the A-allele of SNP rs1204038 had a 65% higher risk of PSA levels above 3 ng/mL compared to those with the G-allele, increasing referrals for further examination.
4 citations
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February 2023 in “Research Reports in Clinical Cardiology” This study found that the ACE gene DD genotype and D allele are linked to an increased risk of hypertensive IHD complications, with dyslipidemia also identified as a significant risk factor for ischemic heart disease.
September 2017 in “Journal of Investigative Dermatology” This study found that in AGA, the risk allele at locus 2q35 alters WNT10A expression through EBF1, suggesting a potential androgen-dependent regulatory mechanism.
25 citations
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August 2006 in “Human Reproduction” This study found that the GGC repeat length significantly influenced testosterone levels in oral contraceptive users from high-risk breast cancer families, and homozygosity for short alleles may be linked to increased breast cancer risk.
1 citations
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October 2013 in “Our Dermatology Online” This study found that individuals in this Egyptian cohort carrying the leucine (L) allele of the 5-α reductase type II enzyme had a higher risk of developing androgenetic alopecia, which may be associated with oxidative stress.
September 2018 in “Fertility and Sterility” In this study, researchers observed that overweight Taiwanese women with PCOS who carry the HSD3B1 1245C allele have a significantly higher risk of developing androgenic alopecia compared to those with the wild-type allele.
March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
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.
August 2015 in “International Journal of Genetics and Molecular Biology” This study found that specific Y-chromosome alleles may influence susceptibility to prostate cancer in Iraqi males, suggesting their potential use in screening for the disease.
February 2009 in “Journal of The American Academy of Dermatology” Certain immune system genes are linked to a higher risk of psoriasis and psoriatic arthritis, while others may offer protection.
47 citations
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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.
6 citations
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December 2021 in “International Journal of Endocrinology” This study found that the INSR His1058 C/T SNP does not increase the risk of developing PCOS among Kashmiri women.