54 citations
,
November 2001 in “Urology” This review discusses the association between androgen receptor CAG repeat polymorphism and several health conditions, including Kennedy’s disease and urologic disorders, without reporting new clinical results.
March 2016 in “West Indian medical journal” This study found no statistically significant relationship between androgenic alopecia and the PON1 ML55 and QR192 genetic polymorphisms, despite a higher frequency of the PON 55 L allele in patients.
11 citations
,
July 2014 in “Gene” This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” This case report describes a 46,XY female patient with a novel homozygous nonsense mutation in the LHCGR gene, highlighting the need for molecular analysis in disorders of sexual development.
April 2025 in “International Journal of General Medicine” This study found that among COVID-19 patients, a higher presence of the G allele in the IFITM3 rs12252 polymorphism correlates with increased inflammatory markers and disease severity, noting higher ESR, CRP, Fibrinogen, LDH, and D-dimer levels in severe cases compared to mild ones.
11 citations
,
April 2019 in “International Journal of Molecular Sciences” This study found that genetic polymorphisms of OCT1 influence the effectiveness of metformin treatment in improving insulin sensitivity among PCOS patients, suggesting a role for personalized treatment strategies.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
8 citations
,
October 2019 in “Immunological investigations” This study suggests that the rs2075876 variant in the AIRE gene may significantly increase susceptibility to alopecia areata in the examined male population.
35 citations
,
March 2013 in “American Journal of Medical Genetics Part B Neuropsychiatric Genetics” This study found that a genetic variation in SRD5A2 influences the severity of PTSD symptoms in a sex-specific manner among traumatized African-American males.
299 citations
,
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.
March 2026 in “Jurnal Biomedika dan Kesehatan” In this pilot study of Indonesians, the rs1998076 genetic variant was not significantly linked to androgenetic alopecia, though the GG genotype showed a non-significant trend toward higher odds, while clinical factors like age and hypertension were correlated with increased risk.
September 2024 in “Frontiers in Genetics” In this study, researchers found a significant association between the rs13405699 SNP at 2q31.1 and male pattern baldness among Han Chinese men, suggesting genetic influence on this condition in this population.
April 2006 in “The Journal of Urology” This study investigates the potential influence of genetic variations in the 5α-reductase type 2 gene on the effectiveness of finasteride treatment for benign prostatic hyperplasia, but it reports no new clinical results.
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
August 2016 in “Journal of Investigative Dermatology” This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.
February 2024 in “Zagazig University Medical Journal” This study found that TCF7L2 gene polymorphism is linked to alopecia areata, but no significant difference in treatment outcomes was observed between PRP and conventional therapy among different genotypes.
51 citations
,
December 2006 in “Mammalian Genome” 10 citations
,
September 2004 in “PubMed” In this study, no significant association was found between the VDR FokI gene polymorphism and alopecia areata, though further research in diverse populations is needed.
3 citations
,
September 2019 in “PLOS ONE” In this study, the authors identified the DHRS9 SNP rs72623193 as most significantly associated with response to dutasteride in treating male pattern hair loss, with additional variants potentially contributing.
2 citations
,
October 2021 in “Bioinformation” This study found that the FTO gene variants rs17817449 and rs1421085 were significantly associated with PCOS susceptibility, and rs8050136 was linked with hair loss and high BMI in women with PCOS in western Saudi Arabia.
January 2020 in “Asian Journal of Chemistry” This study demonstrated that FT-Raman spectroscopy is effective for identifying finasteride polymorphs in tablets and detecting the presence of alternative polymorphs down to about 15% concentration.
September 1997 in “Clinical and Experimental Dermatology” November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
8 citations
,
January 2015 in “Genetics and Molecular Research” This study found that specific SNPs in the CXCL1 and CXCL2 genes may be associated with increased susceptibility to alopecia areata in the Korean population.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
39 citations
,
December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
1 citations
,
September 2021 in “Cureus” This study found that the rs1128977 SNP in the RXRG gene may be linked to altered clinical characteristics such as higher HDL-cholesterol levels and increased body mass index in individuals with dyslipidemia.
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.
4 citations
,
June 2015 in “Journal of Genetics/Journal of genetics” This abstract reports funding sources for ongoing research and does not present any study results.
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.