Association between PITX2 polymorphism and androgenetic alopecia in the Indian population

Manoranjani Murugan, I. Sadasivam, Aarthi Manoharan, Swetha Jayakumar, Yogesh Vetriselvan, Melissa Shaelyn Samuel, Ravikumar Sambandam
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Abstract

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). This study examines the association between genetic variants of the PITX2 gene and AGA risk. 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. 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*). 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.
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印度人群中 PITX2 多态性与雄激素性脱发之间的关系
雄激素性脱发又称男性型秃发,是受环境、激素和遗传因素影响的一种常见脱发形式。本研究探讨了 PITX2 基因的遗传变异与 AGA 风险之间的关联。研究人员从 70 名男性 AGA 患者和 60 名非雄激素性脱发对照者的外周血样本中提取了基因组 DNA。通过TaqMan测定法对分离的DNA进行定量,并确定三种PITX2多态性(rs2200733、rs10033464和rs13143308)的基因型。研究人群的人口统计学特征显示,AGA 组和非 AGA 组在年龄上存在差异。AGA组的血压更高,吸烟、饮酒、代谢综合征、胰岛素抵抗的发生率更高,家族史的发生率也更高。通过基因分析发现,AGA风险与特定的PITX2多态性之间存在明显的相关性,其中rs2200733等位基因(OR=6.08,p<0.001*)、rs1003464 G等位基因(OR=2.02,p<0.019*)和rs13143308显示GT基因型(OR=4.26,p<0.001*)显著相关。本研究还发现了遗传因素和环境因素在AGA发病机制中的相互作用。
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