GHRL, which encodes the ghrelin prepropeptide, is a gene with significant importance in regulating appetite and energy balance in the human body [2]. Ghrelin, the protein it encodes, may also be involved in various biological processes such as carcinogenesis and immune regulation [2]. Genetic studies of GHRL can offer insights into its functions and associated health implications.

In terms of disease associations, the GHRL gene Leu72Met polymorphism is significantly correlated with an increased risk of type 2 diabetes mellitus (T2DM), especially in the Chinese population. Carriers of the Met72 allele may be more susceptible to T2DM [1]. In gastric cancer, GHRL expression in cancer samples is lower than in normal samples, and high GHRL expression is correlated with sample type, cancer stage, worse survival, and immune cell infiltrates, making it a potential prognostic biomarker [2]. In obesity, the presence of the T allele of the GHRL (rs696217) polymorphism in the Ukrainian population indicates an increased risk of obesity development, and it also affects adiponectin and resistin levels [3]. However, no significant association was found between GHRL polymorphisms and prostate cancer [4].

In conclusion, GHRL plays a crucial role in energy regulation and is associated with diseases like T2DM, gastric cancer, and obesity. Studies on its genetic polymorphisms, as well as expression levels in different diseases, contribute to understanding its functions and potential as a biomarker or therapeutic target in these disease areas.

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. Merabet, Nesrine, Ramoz, Nicolas, Boulmaiz, Amel, Tolle, Virginie, Berredjem, Hajira. 2023. SNPs-Panel Polymorphism Variations in GHRL and GHSR Genes Are Not Associated with Prostate Cancer. In Biomedicines, 11, . doi:10.3390/biomedicines11123276. https://pubmed.ncbi.nlm.nih.gov/38137497/