Dataset Information

A Case-Control Study of the Association of Leptin Gene Polymorphisms with Plasma Leptin Levels and Obesity in the Kerala Population.

ABSTRACT:

Background

Over the last few years, the importance of leptin in energy metabolism has been extensively studied in both animal models and in humans. Very few results are available on the association between human leptin gene (LEP) variants and obesity traits in India. We designed this study to analyse the polymorphisms in human leptin gene and the association of sequence variants with obesity among the population in Kerala, South India.

Methods

In this case-control design of 148 study participants, data were collected on socioeconomic aspects and anthropometric measurements. Plasma glucose, insulin, leptin, and lipid profile were measured. Genotyping was done by automated DNA sequencing.

Results

The common Single Nucleotide Polymorphism (SNP) of 5'-UTR of LEP - 2548G/A was found to be present in the study population with "A" variant as dominant allele. A novel synonymous mutation Thr5Thr of exon 2 of LEP was identified in heterozygous form in one subject with morbid obesity with hyperleptinemia. A novel missense mutation Phe17Leu was observed in two subjects with obesity in heterozygous condition. A novel missense mutation Lys36Arg in exon 2 of LEP was observed in one subject with abdominal obesity and decreased serum leptin level.

Conclusion

LEP - 2548G/A at 5'-untranslated region was found to be common with the mutant "A" variant in the study population. SNPs of exons in LEP were found to be rare but associated with morbid obesity and altered levels of serum leptin in the study population in Kerala, India.

SUBMITTER: Manju SK

PROVIDER: S-EPMC9812639 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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Publications

A Case-Control Study of the Association of Leptin Gene Polymorphisms with Plasma Leptin Levels and Obesity in the Kerala Population.

Manju Sudharmadevi K SK Anilkumar Thottathil R TR Vysakh G G Leena Balakumaran K BK Lekshminarayan Vijayalekshmi V Kumar Pradeep G PG Shenoy Trivikrama K TK

Journal of obesity 20221228

<h4>Background</h4>Over the last few years, the importance of leptin in energy metabolism has been extensively studied in both animal models and in humans. Very few results are available on the association between human leptin gene (<i>LEP</i>) variants and obesity traits in India. We designed this study to analyse the polymorphisms in human leptin gene and the association of sequence variants with obesity among the population in Kerala, South India.<h4>Methods</h4>In this case-control design of ...[more]

PMID: 36619235

Similar Datasets

Project description:BackgroundThis study was to investigate the prevalence of single nucleotide polymorphisms (SNPs) in leptin gene LEP (A19G and G2548A) and leptin receptor gene LEPR (K109R and Q223R) and their association with fasting plasma leptin level (PLL) and obesity in a Malaysian suburban population in Kampar, Perak.MethodsConvenience sampling was performed with informed consents, and the study sample was drawn from patients who were patrons of the Kampar Health Clinic. A total of 408 subjects (mean age, 52.4 ± 13.7 years; 169 men, 239 women; 190 obese, 218 non-obese; 148 Malays, 177 ethnic Chinese, 83 ethnic Indians) participated. Socio-demographic data and anthropometric measurements were taken, and genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).ResultsThe LEP A19G, G2548A and LEPR K109R, Q223R variant allele frequencies were 0.74, 0.67 and 0.61, 0.79, respectively. The genotype and allele distributions of these gene variants were significantly different among ethnic groups, but not among body mass index (BMI) classes. Subjects with LEPR K109 and Q223 allele had significantly higher systolic blood pressure and adiposity indices after adjustment for ethnicity (higher BMI, total body and subcutaneous fat; lower skeletal muscle percentage). Subjects with LEPR 109R allele had lower PLL than their wild-type allele counterparts. The influence of LEP A19G and G2548A SNPs on blood pressures, anthropometrics, and PLL was not evident. Interestingly, synergistic effect of the LEP and LEPR SNPs was observed as subjects homozygous for all four SNPs studied exhibited significantly higher subcutaneous fat and PLL than those with other genotype combinations.ConclusionsThe LEP and LEPR SNPs in this study may not be an obesity marker among Malaysians in this population, but were associated with ethnicity. Our findings suggest that each of these SNPs contributes to minor but significant variation in obesity-related traits and in combination they display synergistic effects on subcutaneous fat and PLL.

Dataset Information

A Case-Control Study of the Association of Leptin Gene Polymorphisms with Plasma Leptin Levels and Obesity in the Kerala Population.

Background

Methods

Results

Conclusion

Publications

A Case-Control Study of the Association of Leptin Gene Polymorphisms with Plasma Leptin Levels and Obesity in the Kerala Population.

Similar Datasets

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