Association between PITX2 polymorphism and androgenetic alopecia in the Indian population

Murugan, Manoranjani and Sadasivam, Ilakkia Priya and Manoharan, Aarthi and Jayakumar, Swetha and Vetriselvan, Yogesh and Samuel, Melissa Shaelyn and Sambandam, Ravikumar (2025) Association between PITX2 polymorphism and androgenetic alopecia in the Indian population. INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY, 91.0 (2). pp. 158-162. ISSN 0378-6323

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Abstract

Background: Androgenetic alopecia, also known as male pattern baldness, is a common form of hair loss influenced by environmental, hormonal, and genetic factors. According to recent research, the PITX2 gene may play a key role in the pathophysiology of androgenetic alopecia (AGA). Objectives: This study examines the association between genetic variants of the PITX2 gene and AGA risk. Methods: The genomic DNA was extracted from peripheral blood samples collected from 70 male AGA patients and 60 non-androgenetic alopecia controls. The isolated DNA was quantified and the genotype for three PITX2 polymorphisms (rs2200733, rs10033464, and rs13143308) was identified using TaqMan assays. The statistical analysis was done to determine the allele frequency of genetic variants between AGA and non-AGA groups. Results: The demographic profile of the study population showed that the AGA and non-AGA groups differed in age. The AGA group had higher blood pressure, a higher prevalence of smoking, alcohol consumption, metabolic syndrome, insulin resistance, and a higher incidence of family history. Through genetic analysis, significant correlations were found between AGA risk and specific PITX2 polymorphisms, significantly with the rs2200733 allele (OR = 6.08, p < 0.001*), the rs1003464 G allele (OR = 2.02, p < 0.019*) and the rs13143308 showed GT genotype (OR = 4.26, p < 0.001*). Conclusion: Based on our findings, the PITX2 polymorphisms may play a vital role in the development of AGA. This study also found the interactions between genetic and environmental factors in AGA pathogenesis.

Item Type: Article
Uncontrolled Keywords: PITX2, Androgenetic alopecia, Single nucleotide polymorphism, Genetic variation
Subjects: Medicine > Dermatology
Divisions: Interdisciplinary Studies > Department of Medical Biotechnology, AVMC, Puducherry > Medical Biotechnology
Depositing User: Unnamed user with email techsupport@mosys.org
Last Modified: 06 Feb 2026 07:10
URI: https://ir.vmrfdu.edu.in/id/eprint/6731

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