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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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A genetic association study detects haplotypes associated with obstructive heart defects.

Ming Li1, Mario A Cleves, Himel Mallick

  • 1Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, 13 Children's Way Mail Slot 512-40, Little Rock, AR, 72202, USA, mli@uams.edu.

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Genetic factors influence congenital heart defects (CHDs). This study identified specific gene variations in maternal-fetal genotype interactions linked to obstructive heart defects (OHDs), offering insights into CHD development.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Public Health

Background:

  • Congenital heart defects (CHDs) arise from complex genetic, epigenetic, and environmental factors.
  • Maternal and fetal genotypes, along with their interactions, are implicated in CHD susceptibility.
  • Obstructive heart defects (OHDs) represent a significant subset of CHDs requiring further etiological investigation.

Purpose of the Study:

  • To conduct a haplotype-based genetic association study of OHDs.
  • To investigate the genetic effects of single nucleotide polymorphisms (SNPs) in homocysteine, folate, and transsulfuration pathways.
  • To dissect maternal, fetal, and maternal-fetal genotype (MFG) interaction effects on OHD occurrence.

Main Methods:

  • Haplotype-based genetic association study design.
  • Utilized penalized logistic regression with adaptive least absolute shrinkage and selection operator (lasso).
  • Analyzed genotypes from 285 mother-offspring pairs with OHDs and 868 unaffected pairs.

Main Results:

  • Identified 9 potentially associated haplotype blocks out of 140 examined.
  • Four haplotype blocks in MGMT, MTHFS, CBS, and DNMT3L showed statistical significance (Bayesian false-discovery probability > 0.8).
  • Significant fetal effects were noted in MGMT and MTHFS; significant MFG interaction effects were observed in CBS and DNMT3L.

Conclusions:

  • Specific genetic variations in key metabolic pathways are associated with OHDs.
  • Fetal genotype and maternal-fetal genotype interactions play crucial roles in OHD development.
  • Findings contribute to understanding the genetic basis of congenital heart defects and may inform future prevention strategies.