48 citations
,
January 2003 in “Fertility and Sterility” In this study, researchers found no significant association between the D19S884 marker near the insulin receptor gene and polycystic ovary syndrome in women from Spain and Italy.
6 citations
,
April 2023 in “Current Issues in Molecular Biology” This study identified three variants in the HR gene among Mexican patients with alopecia areata, with one novel variant potentially serving as a risk factor for the disease.
November 2025 in “DOAJ (DOAJ: Directory of Open Access Journals)” This study identified elevated CD25 on secreting CD4 regulatory T cells as a genetic risk factor for androgenetic alopecia, with certain plasma proteins acting as mediators in this causal relationship.
October 2023 in “Lithuanian University of Health Sciences” This study investigated the TG5 gene polymorphism in Lithuanian beef cattle, finding that the CC genotype is associated with higher productivity traits, such as live weight and carcass weight, compared to other genotypes, and noted a statistically significant impact on these traits.
3 citations
,
July 2023 in “Biomolecules” This study reports that some human cell surface HLA-I molecules (including HLA-B27) can appear without their usual peptide component, potentially altering immune interactions, influencing arthritis development in specific mice models, and exhibiting upregulation in certain cancer cells.
This case report details a child with a specific TNFAIP3 mutation manifesting as a severe SLE/SS phenotype, expanding the known phenotype for this genetic variant.
8 citations
,
April 2018 in “Journal of the European Academy of Dermatology and Venereology” This letter discusses azathioprine-induced alopecia and leukopenia potentially linked to NUDT15 polymorphisms, reporting no new clinical results.
March 2005 in “Journal of the American Academy of Dermatology” Higher levels of IL-1a and IL-1RA were found in severe alopecia areata cases.
September 2020 in “Research Square (Research Square)” This study identified 21 candidate genes related to immunoglobulin concentrations in colostrum and serum of dairy cattle, which may aid in genetic improvement for disease resistance.
22 citations
,
September 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This review highlights the possible role of T regulatory cells in the immune-related mechanisms of alopecia areata but reports no new clinical findings.
January 2024 in “Genetics in Medicine Open” This case study of a patient with a variant in the extracellular region of IL6ST suggests a potential expansion of the phenotypic spectrum for autosomal dominant hyper-IgE syndrome, warranting further investigation.
March 2018 in “Suez Canal University Medical Journal” In this study, NKG2D polymorphism was not linked to increased susceptibility to systemic lupus erythematosus among Egyptian patients living in the Suez Canal area.
This study reported the genotypic and allelic frequencies of seven SNPs associated with androgenetic alopecia in Mexican individuals, highlighting significant differences in one SNP between cases and controls in Western Mexico.
March 2021 in “Medico-Legal Update” In this study, no significant change in androgen receptor gene expression was found in females with recurrent spontaneous abortion, but a mutant genotype may offer some protection against the condition.
133 citations
,
January 2009 in “Nature” This study identified gene expression patterns in a mouse model that may influence tumor susceptibility and tissue functions related to inflammation and cell proliferation, highlighting Lgr5 and the vitamin D receptor as key regulators.
40 citations
,
January 2017 in “Intestinal Research” This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.
10 citations
,
October 2014 in “Journal of Ovarian Research” This study found a significant association between the IRS-2 gene variant and an increased risk of PCOS, especially in non-obese women in the Chinese population from Taiwan.
September 2016 in “Journal of Dermatological Science” This study identified that in Japanese patients with autosomal recessive woolly hair/hypotrichosis, the c.736T > A LIPH mutation is associated with a mild phenotype, while the c.742C > A mutation may lead to severe baldness.
January 2011 in “The Chinese Journal of Dermatovenereology” This study found that shorter GGN repeat lengths (≤23) in the androgen receptor gene are associated with androgenetic alopecia among Chinese males, whereas two specific SNPs studied were not present in this population.
September 2025 in “PeerJ” This study found that the genes FCER1A and RGS1 are promising biomarkers for diagnosing systemic lupus erythematosus, with FCER1A downregulated and RGS1 upregulated in patients.
14 citations
,
February 2017 in “Scientific Reports” Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
10 citations
,
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.
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.
This study found that the rs3185480 polymorphism in the APCDD1 gene was associated with an elevated risk of developing androgenic alopecia and reduced protein levels, potentially due to altered codon usage affecting translation efficiency.
5 citations
,
May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
18 citations
,
January 2013 in “PLoS ONE” This study identified several significant genetic variants associated with alopecia universalis, including a novel association with HLA-DRB5, which may play a hidden role in the disease.
49 citations
,
August 2022 in “Frontiers in Immunology” This paper discusses the evolving understanding of psoriasis pathogenesis with no new clinical findings; the authors highlight the role of T-cell plasticity and regulatory cells, calling for further clinical applications using single-cell technologies.
1 citations
,
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.
9 citations
,
February 2018 in “The Journal of Dermatology” This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.
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.