Comparison of Q223R leptin receptor polymorphism to the leptin gene expression in Greek young volunteers

Panagiotis Halvatsiotis; Argyris Siatelis; Panagiotis Koulouvaris; Anthimia Batrinou; Despina Vougiouklaki; Eleni Routsi; Michail Papapanou; Maria Trapali; Dimitra Houhoula; Panagiotis Halvatsiotis; Argyris Siatelis; Panagiotis Koulouvaris; Anthimia Batrinou; Despina Vougiouklaki; Eleni Routsi; Michail Papapanou; Maria Trapali; Dimitra Houhoula

doi:10.3934/medsci.2021025

AIMS Medical Science

2021, Volume 8, Issue 4: 301-310. doi: 10.3934/medsci.2021025

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Research article

Comparison of Q223R leptin receptor polymorphism to the leptin gene expression in Greek young volunteers

Running title: Leptin polymorphism and leptin gene expression

1.
2nd Propaedeutic Department of Internal Medicine, Medical School, National and Kapodistrian University of Athens, “ATTIKON” University Hospital, Chaidari, Greece
2.
3rd Department of Urologist Medical School, National and Kapodistrian University of Athens, “ATTIKON” University Hospital, Chaidari, Greece
3.
1st Department of Orthopaedics, Medical School, National and Kapodistrian University of Athens, “ATTIKON” University Hospital, Chaidari, Greece
4.
Department of Food Science and Technology, University of West Attica, Agiou Spyridonos 28, Egaleo, Attiki, Greece
5.
School of Medicine, National and Kapodistrian University of Athens, Athens, Greece
6.
Department of Biomedical Medicine, University of West Attica, Agiou Spyridonos 28, Egaleo, Attiki, Greece

Received: 09 September 2021 Accepted: 29 October 2021 Published: 05 November 2021

Objective
The objective of the present study was to identify the leptin gene expression and the leptin receptor polymorphisms in blood samples and to correlate gene expression values with anthropometric characteristics.

Methods
Blood from 140 Greek young volunteers was subjected to polymerase chain reaction–restricted fragment length polymorphism (PCR–RFLP), for the genomic region of Q223R polymorphism at codon 223 in the leptin receptor gene (LEPR) coding region. RNA extraction, cDNA synthesis and Quantitative Real-Time PCR was performed for assessing the expression of the leptin gene (LEP).

Results
Leptin gene was identified in all tested specimens and the gene was expressed in 88.9% of all volunteers with BMI < 25. In addition, it was observed that gene expression is affected by various external factors, such as Body Mass Index (BMI), eating behavior, gender and age. It was also shown that as for the Q223R polymorphism (A to G) allele G occurs with a frequency of 100% in men with BMI > 30 and 75.9% in men and 88.9% in women with BMI 25–30. Volunteers with BMI 25–30 who were homozygous on the G allele were 50% and 77.8% in men and women respectively. All subjects with a BMI > 30 were homozygous on the G allele at 100%.

Conclusions
In this small-scale study, results have shown that the leptin gene expression correlates with BMI and that the allele G in Q223R polymorphism is linked to overweight individuals.
- obesity,
- leptin gene expression,
- leptin receptor polymorphisms
Citation: Panagiotis Halvatsiotis, Argyris Siatelis, Panagiotis Koulouvaris, Anthimia Batrinou, Despina Vougiouklaki, Eleni Routsi, Michail Papapanou, Maria Trapali, Dimitra Houhoula. Comparison of Q223R leptin receptor polymorphism to the leptin gene expression in Greek young volunteers[J]. AIMS Medical Science, 2021, 8(4): 301-310. doi: 10.3934/medsci.2021025

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Abstract

Objective

The objective of the present study was to identify the leptin gene expression and the leptin receptor polymorphisms in blood samples and to correlate gene expression values with anthropometric characteristics.

Methods

Blood from 140 Greek young volunteers was subjected to polymerase chain reaction–restricted fragment length polymorphism (PCR–RFLP), for the genomic region of Q223R polymorphism at codon 223 in the leptin receptor gene (LEPR) coding region. RNA extraction, cDNA synthesis and Quantitative Real-Time PCR was performed for assessing the expression of the leptin gene (LEP).

Results

Leptin gene was identified in all tested specimens and the gene was expressed in 88.9% of all volunteers with BMI < 25. In addition, it was observed that gene expression is affected by various external factors, such as Body Mass Index (BMI), eating behavior, gender and age. It was also shown that as for the Q223R polymorphism (A to G) allele G occurs with a frequency of 100% in men with BMI > 30 and 75.9% in men and 88.9% in women with BMI 25–30. Volunteers with BMI 25–30 who were homozygous on the G allele were 50% and 77.8% in men and women respectively. All subjects with a BMI > 30 were homozygous on the G allele at 100%.

Conclusions

In this small-scale study, results have shown that the leptin gene expression correlates with BMI and that the allele G in Q223R polymorphism is linked to overweight individuals.

Authors contributions

Study concept and design: PH, AS, PK, ER, MP and DH; acquisition of data: DV, ER, MT, and MP; analysis and interpretation of data: PH, AS, PK, and DH; drafting of the manuscript: PH, AS, PK, AB and DH; critical revision of the manuscript: PH, AS, PK, AB and DH; statistical analysis: DH; and study supervision: DH.

Conflict of interest

All the authors declare that there are not biomedical financial interests or potential conflicts ofinterest in writing this manuscript.

References

[1]	Francisco V, Pino J, Campos-Cabaleiro V, et al. (2018) Obesity, fat mass and immune system: role for leptin. Front Physiol 9: 640. doi: 10.3389/fphys.2018.00640
[2]	Poeggeler B, Schulz C, Pappolla MA, et al. (2010) Leptin and the skin: a new frontier. Exp Dermatol 19: 12-18. doi: 10.1111/j.1600-0625.2009.00930.x
[3]	Thompson DB, Ravussin E, Bennett PH, et al. (1997) Structure and sequence variation at the human leptin receptor gene in lean and obese Pima Indians. Hum Mol Genet 6: 675-679. doi: 10.1093/hmg/6.5.675
[4]	Jaganathan R, Ravindran R, Dhanasekaran S (2018) Emerging role of adipocytokines in type 2 diabetes as mediators of insulin resistance and cardiovascular disease. Can J Diabetes 42: 446-456.e1. doi: 10.1016/j.jcjd.2017.10.040
[5]	Feng R, Li Y, Zhao D, et al. (2009) Lack of association between TNF 238 G/A polymorphism and type 2 diabetes: a meta-analysis. Acta Diabetol 46: 339-343. doi: 10.1007/s00592-009-0118-3
[6]	Luna G, Rodrigues da Silva I, Sanchez M (2016) Association between -308G/A TNFα polymorphism and susceptibility to type 2 diabetes mellitus: a systematic review. J Diabetes Res 2016. doi: 10.1155/2016/6309484
[7]	Jamil K, Jayaraman A, Ahmad J, et al. (2017) TNF-alpha 308G/A and 238G/A polymorphisms and its protein network associated with type 2 diabetes mellitus. Saudi J Biol Sci 24: 1195-1203. doi: 10.1016/j.sjbs.2016.05.012
[8]	Thiem K, Stienstra R, Riksen NP, et al. (2019) Trained immunity and diabetic vascular disease. Clin Sci 133: 195-203. doi: 10.1042/CS20180905
[9]	Wild S, Roglic G, Green A, et al. (2004) Global prevalence of diabetes: estimates for the year 2000 and projections for 2030. Diabetes Care 27: 1047-1053. doi: 10.2337/diacare.27.5.1047
[10]	Duarte SFP, Francischetti EA, Genelhu-Abreu V, et al. (2006) p.Q223R leptin receptor polymorphism associated with obesity in Brazilian multiethnic subjects. Am J Hum Biol 18: 448-453. doi: 10.1002/ajhb.20519
[11]	Suriyaprom K, Tungtrongchitr R, Thawnasom K (2014) Measurement of the levels of leptin, BDNF associated with polymorphisms LEP G2548A, LEPR Gln223Arg and BDNF Val66Met in Thai with metabolic syndrome. Diabetol Metab Syndr 6: 1-9. doi: 10.1186/1758-5996-6-6
[12]	Murugesan D, Arunachalam T, Ramamurthy V, et al. (2010) Association of polymorphisms in leptin receptor gene with obesity and type 2 diabetes in the local population of Coimbatore. Indian J Hum Genet 16: 72-77. doi: 10.4103/0971-6866.69350
[13]	Illangasekera YA, Kumarasiri PVR, Fernando DJ, et al. (2020) Association of the leptin receptor Q223R (rs1137101) polymorphism with obesity measures in Sri Lankans. BMC Res Notes 13: 34. doi: 10.1186/s13104-020-4898-4
[14]	Yiannakouris N, Yannakoulia M, Melistas L, et al. (2001) The Q223R polymorphism of the leptin receptor gene is significantly associated with obesity and predicts a small percentage of body weight and body composition variability. J Clin Endocrinol Metab 86: 4434-4439. doi: 10.1210/jcem.86.9.7842
[15]	Marcos-Pasero H, Aguilar-Aguilar E, Colmenarejo G, et al. (2020) The Q223R polymorphism of the leptin receptor gene as a predictor of weight gain in childhood obesity and the identification of possible factors involved. Genes 11: 560. doi: 10.3390/genes11050560
[16]	Chiu KC, Chu A, Chuang LM, et al. (2004) Association of leptin receptor polymorphism with insulin resistance. Eur J Endocrinol 150: 725-729. doi: 10.1530/eje.0.1500725
[17]	Heo M, Leibel RL, Fontaine KR, et al. (2002) A meta-analytic investigation of linkage and association of common leptin receptor (LEPR) polymorphisms with body mass index and waist circumference. Int J Obes Relat Metab Disord 26: 640-646. doi: 10.1038/sj.ijo.0801990
[18]	Constantin A, Costache G, Sima AV, et al. (2010) Leptin G-2548A and leptin receptor Q223R gene polymorphisms are not associated with obesity in Romanian subjects. Biochem Biophys Res Commun 391: 282-286. doi: 10.1016/j.bbrc.2009.11.050
[19]	Becer E, Mehmetcik G, Bareke H, et al. (2013) Association of leptin receptor gene Q223R polymorphism on lipid profiles in comparison study between obese and non-obese subjects. Gene 529: 16-20. doi: 10.1016/j.gene.2013.08.003
[20]	Quinton N, Lee A, Ross R, et al. (2001) A single nucleotide polymorphism (SNP) in the leptin receptor is associated with BMI, fat mass and leptin levels in postmenopausal Caucasian women. Hum Genet 108: 233-236. doi: 10.1007/s004390100468
[21]	Chagnon YC, Chung WK, Pérusse L, et al. (1999) Linkages and associations between the leptin receptor (LEPR) gene and human body composition in the Quebec family study. Int J Obes Relat Metab Disord 23: 278-286. doi: 10.1038/sj.ijo.0800809
[22]	Guizar-Mendoza JM, Amador-Licona N, Flores-Martinez SE, et al. (2005) Association analysis of the Gln223Arg polymorphism in the human leptin receptor gene, and traits related to obesity in Mexican adolescents. J Hum Hypertens 19: 341-346. doi: 10.1038/sj.jhh.1001824

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