26 citations
,
February 1998 in “Chemico-Biological Interactions” This review discusses recent molecular biology advances in the human phenol sulfotransferase gene family and reports no new results; the authors highlight its relevance for studies of endogenous and xenobiotic metabolism.
10 citations
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January 2019 in “Advances in Clinical and Experimental Medicine” This meta-analysis reported a significant association between vitamin D receptor gene ApaI polymorphism and polycystic ovary syndrome risk, with variations observed between Asian and Caucasian populations.
9 citations
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May 2019 in “Medicine” This meta-analysis found that the rs2476601 SNP of the PTPN22 gene is significantly associated with reduced susceptibility to alopecia areata, with carriers of the C-allele and CC-genotype having a lower risk.
8 citations
,
May 2005 in “Fertility and Sterility” In this study, women with the GG polymorphism of the MMP1 gene promoter were found to have a higher likelihood of being diagnosed with polycystic ovary syndrome.
5 citations
,
June 2016 in “Twin research and human genetics” In this study, heritability analyses in twins and siblings revealed that genetic factors predominantly influence hair diameter and curvature, with notable sex differences in their genetic impact.
1 citations
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September 2023 in “Clinical, cosmetic and investigational dermatology” This genome-wide association study identified several genetic markers, including specific SNPs and HLA genotypes, associated with alopecia areata susceptibility in the Taiwanese population, highlighting key pathways involved in immune response and offering insights into the genetic origins of this autoimmune condition.
December 2025 in “Egyptian Journal of Basic and Applied Sciences” This study found that the JAK1 rs310241 AG genotype is associated with a 4.6-fold increased risk of alopecia areata, whereas JAK2 polymorphisms showed no significant link, suggesting a potential genetic susceptibility factor warranting further research.
December 2024 in “Era s journal of medical research” This source reports that PCOS, a complex endocrinal condition, is characterized by hyperandrogenism, which leads to symptoms like hirsutism, acne, and alopecia; genetic factors and hypothalamic-pituitary-ovarian axis disruption play significant roles in its development, but more research is needed to understand these mechanisms fully.
January 2024 in “Authorea (Authorea)” This study found that polymorphism in the STK11 gene does not predict metformin therapy response regarding menstrual regularity and other symptoms in women with polycystic ovary syndrome, despite observed improvements in several health markers post-treatment.
299 citations
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March 2001 in “Journal of Investigative Dermatology” This study found that specific genetic markers near the androgen receptor gene are significantly more common in men with male pattern baldness, suggesting a genetic component in its development.
103 citations
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March 2015 in “Nature Communications” This study identified a genetic locus associated with idiopathic scoliosis in females, which might influence spinal gene expression and was previously linked to protection from early-onset alopecia.
48 citations
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November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that size polymorphisms in certain hKAP1 genes are linked to the hKAP1.1B and hKAP1.3 genes, arising from intragenic deletions and duplications in Japanese and Caucasian populations.
31 citations
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January 2010 in “GenomeBiology.com (London. Print)” This study reports that X chromosomes often show greater differentiation between human populations than autosomes, likely due to a mix of demography and selection pressures.
26 citations
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December 2015 in “Journal of The European Academy of Dermatology and Venereology” This article introduces a new grading system called the FPHL Severity Index to better identify and monitor early stages of female pattern hair loss using clinical criteria.
25 citations
,
April 2017 in “PloS one” In this study, specific SNPs in the FST gene were significantly associated with various wool quality traits in Chinese Merino sheep, suggesting potential markers for breeding programs.
16 citations
,
February 2018 in “BMC Genomics” This paper reviews genome-based personalized medicine developments using Web services for analyzing SNPs in reproductive potential but reports no new clinical findings.
15 citations
,
August 2010 in “Fertility and sterility” This study found that girls with polycystic ovary syndrome and longer SHBG and AR gene repeats experienced greater improvements in lipid and androgen levels after one year of metformin treatment.
12 citations
,
August 2019 in “BMC Medical Genetics” This study found that two MC4R gene polymorphisms are associated with higher BMI in women with PCOS in western Saudi Arabia, but are not linked to PCOS itself.
9 citations
,
July 2011 in “Scientific Reports” This study suggests that human evolution involved accelerated changes in the HR gene, affecting its role in mediating postnatal hair cycling.
7 citations
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June 2019 in “Australasian Journal of Dermatology” This review discusses the role of androgen hormones in the pathophysiology of childhood androgenetic alopecia and reports no clinical results.
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.
4 citations
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November 2017 in “Cancer Causes & Control” This study found that men with androgenetic alopecia at age 20 years may have a higher risk of developing aggressive prostate cancer, particularly advanced stage disease.
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.
3 citations
,
April 2012 in “Bioinformation” This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.
2 citations
,
July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” This study identified genetic variations in the DSG4 gene among sheep, revealing valuable markers for assessing their impact on wool traits.
1 citations
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November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
August 2026 in “Journal of Genome Biotechnology and Genetics” This review found that while forensic DNA phenotyping and health applications for pigmentation genetics show potential, factors like phenotype definition and population diversity present challenges to accurate genotype-to-appearance predictions.
March 2024 in “Research Square (Research Square)” This study found that in sheep, the microRNA oar-miR-377 regulates hair follicle development by targeting the SLC24A2 gene, and identified a genetic variation associated with wool quality, suggesting potential markers for breeding.
September 2022 in “Canadian journal of animal science” This study found that polymorphisms in KRTAP13.1, KRTAP27-1, and KRTAP24-1 were significantly associated with fiber diameter in Jiangnan cashmere goats, which may aid future breeding and conservation efforts.
April 2011 in “Vestnik dermatologii i venerologii” This study found an association between 'short' CAG repeats in the androgen receptor gene and increased non-random X chromosome inactivation in women with androgenic alopecia.