Leptin and Leptin Receptor Polymorphisms in Infants and Their Parents: Correlation with Preterm Birth

Francesco Savino1, Allegra Sardo1, Stefano Gambarino2

  • 1Early Infancy Special Care Unit, Regina Margherita Children Hospital, A.O.U. Città della Salute e della Scienza di Torino, 10126 Torino, Italy.

Genes
|January 26, 2024
PubMed

Insights

Genetic variations in LEP and LEPR genes are linked to adverse pregnancy outcomes. This study found a father

Area of Science:

  • Genetics
  • Obstetrics
  • Perinatology

Background:

  • Single-nucleotide polymorphisms (SNPs) in LEP and LEPR genes are associated with adverse pregnancy outcomes (PAOs).
  • Preterm birth (PTB) is a leading cause of infant mortality, necessitating research into its genetic underpinnings.

Purpose of the Study:

  • To investigate the correlation between specific LEP and LEPR gene single-nucleotide polymorphisms (SNPs) and the occurrence of preterm birth (PTB).

Main Methods:

  • Genotyping of three SNPs (LEPRA668G, LEPG2548A, A19G) in oral mucosa cells from families with spontaneous PTB and control families with at-term births.
  • Analysis using ARMS-MAMA real-time PCR.

Main Results:

  • No significant association was found between LEPG2548A or LEPA19G SNPs and PTB in infants, mothers, or fathers.
  • A statistically significant correlation was observed between the LEPRA668G genotype GG in fathers and PTB.

Conclusions:

  • The LEPRA668G genotype in fathers may represent a genetic risk factor contributing to preterm birth.
  • Further research is required to elucidate the precise role of genetics in preterm delivery.

Related Concept Videos

Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
2.5K
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
570
Diabetes Mellitus: Type 2 and Gestational01:22

Diabetes Mellitus: Type 2 and Gestational

Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
2.4K
Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
11.5K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
160
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
34.5K