Murugan Manoranjani, Sadasivam Ilakkia Priya, Manoharan Aarthi, Jayakumar Swetha, Vetriselvan Yogesh, Samuel Melissa Shaelyn, Sambandam Ravikumar
Department of Medical Biotechnology, Aarupadai Veedu Medical College & Hospital, Vinayaka Mission's Research Foundation (Deemed to be University), Kirumampakkam, Puducherry, India.
Department of Dermatology, Venereology and Leprosy, Aarupadai Veedu Medical College & Hospital, Vinayaka Mission's Research Foundation (Deemed to be University), Kirumampakkam, Puducherry, India.
Indian J Dermatol Venereol Leprol. 2025 Mar-Apr;91(2):158-162. doi: 10.25259/IJDVL_1147_2023.
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.
背景 雄激素性脱发,也称为男性型秃发,是一种受环境、激素和遗传因素影响的常见脱发形式。根据最近的研究,PITX2基因可能在雄激素性脱发(AGA)的病理生理学中起关键作用。目的 本研究探讨PITX2基因的遗传变异与AGA风险之间的关联。方法 从70例男性AGA患者和60例非雄激素性脱发对照者采集的外周血样本中提取基因组DNA。对分离出的DNA进行定量,并使用TaqMan分析鉴定三种PITX2多态性(rs2200733、rs10033464和rs13143308)的基因型。进行统计分析以确定AGA组和非AGA组之间遗传变异的等位基因频率。结果 研究人群的人口统计学特征表明,AGA组和非AGA组在年龄上存在差异。AGA组血压更高,吸烟、饮酒、代谢综合征、胰岛素抵抗的患病率更高,家族史发生率也更高。通过基因分析,发现AGA风险与特定的PITX2多态性之间存在显著相关性,特别是与rs2200733等位基因(OR = 6.08,p < 0.001*)、rs1003464 G等位基因(OR = 2.02,p < 0.019*)以及rs13143308显示的GT基因型(OR = 4.26,p < 0.001*)。结论 根据我们的研究结果,PITX2多态性可能在AGA的发生发展中起重要作用。本研究还发现了AGA发病机制中遗传和环境因素之间的相互作用。