GHRL, also known as the ghrelin prepropeptide gene, encodes ghrelin, a protein that regulates appetite and energy balance in the human body [2]. Ghrelin is involved in multiple physiological processes, such as regulating metabolism, and its associated pathways likely play a role in maintaining overall body homeostasis. Genetic studies of GHRL can offer insights into its function in health and disease [1,3,4].

GHRL gene polymorphisms have been associated with various health conditions. The Leu72Met polymorphism in the GHRL gene was significantly correlated with an increased risk of type 2 diabetes mellitus (T2DM), especially in the Chinese population. Individuals carrying the Met72 allele may be more susceptible to T2DM [1]. In the Ukrainian population, the T allele of the GHRL (rs696217) polymorphism was associated with an increased risk of obesity development, and it also affected adiponectin and resistin levels in obese patients [3]. In a Turkish-Cypriot population, the GHRL Leu72Met polymorphism was more prevalent in obese patients, and the rs696217 GT genotype had lower serum high-density lipoprotein cholesterol levels [6]. Also, in gastric cancer, GHRL expression was downregulated, and it may act as a tumor suppressor [5].

In conclusion, GHRL plays a crucial role in regulating appetite and energy balance, and its gene polymorphisms are associated with diseases like T2DM, obesity, and potentially gastric cancer. These findings from human population-based genetic studies provide insights into the role of GHRL in disease pathogenesis, which may help in understanding the underlying mechanisms and potentially developing targeted preventive or therapeutic strategies for these diseases.

References:

1. Li, Yan-Yan, Lu, Xin-Zheng, Yang, Xin-Xing, Kim, Hyun Jun, Yang, Zhi-Jian. 2019. GHRL Gene Leu72Met Polymorphism and Type 2 Diabetes Mellitus: A Meta-Analysis Involving 8,194 Participants. In Frontiers in endocrinology, 10, 559. doi:10.3389/fendo.2019.00559. https://pubmed.ncbi.nlm.nih.gov/31440212/

2. Wang, Jinyun, Liu, Dingwei, Xie, Yong. 2023. GHRL as a prognostic biomarker correlated with immune infiltrates and progression of precancerous lesions in gastric cancer. In Frontiers in oncology, 13, 1142017. doi:10.3389/fonc.2023.1142017. https://pubmed.ncbi.nlm.nih.gov/37469414/

3. Prodan, Andrii, Dzubanovsky, Ihor, Kamyshnyi, Oleksandr, Grytsenko, Stepan, Voloshyn, Stanislava. 2023. Effect of the GHRL gene (rs696217) polymorphism on the metabolic disorders in patients with obesity in the Ukrainian population. In Endocrine regulations, 57, 173-182. doi:10.2478/enr-2023-0021. https://pubmed.ncbi.nlm.nih.gov/37715984/

4. Prodan, Andrii, Dzubanovsky, Ihor, Kamyshnyi, Oleksandr, Pidruchna, Svitlana, Voloshyn, Stanislava. 2023. GHRL, LEP, LEPR genes polymorphism and their association with the metabolic syndrome in the Ukrainian population. In Endocrine regulations, 57, 269-278. doi:10.2478/enr-2023-0030. https://pubmed.ncbi.nlm.nih.gov/38127688/

5. Hussein, Neveen A, Rashad, Mona M, Abdou, Azza S, Hussein, Amr M, Mohamed, Hagar M. 2022. Gene profiling of SEC13, SMAD7, GHRL, long non-coding RNA GHRLOS, HIF-1α in gastric cancer patients. In Scientific reports, 12, 6555. doi:10.1038/s41598-022-10402-w. https://pubmed.ncbi.nlm.nih.gov/35449150/

6. Becer, E, Ergoren, M C. 2021. Dual Effect of the GHRL Gene Variant in the Molecular Pathogenesis of Obesity. In Balkan journal of medical genetics : BJMG, 24, 27-34. doi:10.2478/bjmg-2021-0011. https://pubmed.ncbi.nlm.nih.gov/34447656/