Prevalence of Low EPHX1 Activity-Associated Genotypes in Himalayan Populations of India

IF 1.7 4区医学 Q1 ANTHROPOLOGY

American Journal of Human Biology Pub Date : 2025-09-20 DOI:10.1002/ajhb.70148

Divya Rai, Saptaparni De, Debashruti Das, Shishir Tamang, Kumaresh Mandal, Soni Subba, L. Suhasini Sahithi, Alla G. Reddy, Periyasamy Govindaraj, Kumarasamy Thangaraj, Gyaneshwer Chaubey, Rakesh Tamang

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引用次数: 0

Abstract

Objectives

The EPHX1 gene encodes human microsomal epoxide hydrolase 1, which helps in biotransformation processes. Its activity is influenced by combinations of genotypes at its polymorphic sites. There are no data on the EPHX1 gene variants in the Indian Himalayan and adjoining populations (HAAPs). Therefore, this study aims to investigate the activity-associated genotypes of the EPHX1 gene variants in the HAAPs.

Materials and Methods

The EPHX1 activity-associated variants, located in exon 3 (Tyr113His) and exon 4 (His139Arg), were analyzed among 607 samples from 16 different HAAPs. Genotype data from previously published 14 Indian populations were combined and evaluated for pan-India comparison.

Results

We observed the prevalence of low EPHX1 activity-associated genotypes compared to the intermediate and high activity combinations in the HAAPs. There was a significant difference (p < 0.05) between the HAAPs and the reference Indian population based on variants in the EPHX1 gene. Comparison based on linguistic affiliation revealed that low EPHX1 activity-related genotypes were significantly higher in frequency among Tibeto-Burman speaking HAAPs (p < 0.001), followed by the other three major linguistic groups in India.

Conclusion

Our study highlights the variations in both the studied loci among the HAAPs. We observed the widespread presence of low-activity-associated genotypes of the EPHX1 gene in the HAAPs. The pan-India comparison revealed the highest prevalence of low-activity-associated genotypes among the Tibeto-Burman speaking HAAPs compared to other linguistic groups. In the future, high-resolution genetic and molecular studies on EPHX1 are necessary to corroborate this finding and better understand human health holistically.

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印度喜马拉雅人群中EPHX1低活性相关基因型的流行

目的：EPHX1基因编码人微粒体环氧化物水解酶1，该酶有助于生物转化过程。其活性受多态位点基因型组合的影响。在印度喜马拉雅和邻近人群（HAAPs）中没有EPHX1基因变异的数据。因此，本研究旨在研究HAAPs中EPHX1基因变异的活性相关基因型。材料和方法：对来自16个不同HAAPs的607个样本进行了EPHX1活性相关变异分析，这些变异位于外显子3 （Tyr113His）和外显子4 （His139Arg）。对先前发表的14个印度人群的基因型数据进行合并和评估，以便进行全印度比较。结果：我们观察到在HAAPs中，与中高活性组合相比，EPHX1低活性相关基因型的患病率。结论：我们的研究强调了HAAPs中两个研究位点的差异。我们观察到在HAAPs中广泛存在EPHX1基因的低活性相关基因型。泛印度比较显示，与其他语言群体相比，藏缅语HAAPs中低活性相关基因型的患病率最高。在未来，有必要对EPHX1进行高分辨率的遗传和分子研究，以证实这一发现，并更好地从整体上了解人类健康。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

American Journal of Human Biology 生物-生物学

CiteScore

4.80

自引率

13.80%

发文量

124

审稿时长

4-8 weeks

期刊介绍： The American Journal of Human Biology is the Official Journal of the Human Biology Association. The American Journal of Human Biology is a bimonthly, peer-reviewed, internationally circulated journal that publishes reports of original research, theoretical articles and timely reviews, and brief communications in the interdisciplinary field of human biology. As the official journal of the Human Biology Association, the Journal also publishes abstracts of research presented at its annual scientific meeting and book reviews relevant to the field. The Journal seeks scholarly manuscripts that address all aspects of human biology, health, and disease, particularly those that stress comparative, developmental, ecological, or evolutionary perspectives. The transdisciplinary areas covered in the Journal include, but are not limited to, epidemiology, genetic variation, population biology and demography, physiology, anatomy, nutrition, growth and aging, physical performance, physical activity and fitness, ecology, and evolution, along with their interactions. The Journal publishes basic, applied, and methodologically oriented research from all areas, including measurement, analytical techniques and strategies, and computer applications in human biology. Like many other biologically oriented disciplines, the field of human biology has undergone considerable growth and diversification in recent years, and the expansion of the aims and scope of the Journal is a reflection of this growth and membership diversification. The Journal is committed to prompt review, and priority publication is given to manuscripts with novel or timely findings, and to manuscripts of unusual interest.