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Association between RAPH1 Gene Haplotypes and CHE2 Locus Phenotypes.

Fabiana A De Andrade1, Meire S Batistela1, Sarah Da C Amaral1

  • 1Polymorphism and Linkage Laboratory, Department of Genetics, Federal University of Paraná, Curitiba, Paraná, Brazil.

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Summary
This summary is machine-generated.

The RAPH1 gene, encoding lamellipodin, is identified as the CHE2 locus, influencing butyrylcholinesterase (BChE) activity and obesity risk. Genetic variations in RAPH1 explain differing BChE levels in individuals with the C5 complex.

Keywords:
BCHE geneCHE2 locusRAPH1 genebutyrylcholinesteraselamellipodin

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Area of Science:

  • Biochemistry
  • Human Genetics
  • Metabolic Research

Background:

  • Human butyrylcholinesterase (BChE) activity is linked to body mass index (BMI) and obesity.
  • BChE activity is influenced by the CHE2 locus, which encodes an unknown BChE-binding protein forming the C5 complex.

Purpose of the Study:

  • To test the hypothesis that the RAPH1 gene, encoding lamellipodin (Lpd), constitutes the CHE2 locus.
  • To investigate the association between RAPH1 gene single nucleotide polymorphisms (SNPs) and the CHE2 C5+ phenotype.

Main Methods:

  • Genotyping of RAPH1 SNPs (rs2246118, rs3814365, rs2465520) in individuals with (C5+) and without (C5-) the C5 complex.
  • Haplotype analysis to determine associations with CHE2 C5+ phenotypes.
  • Measurement of BChE activity in relation to identified phenotypes.

Main Results:

  • Two RAPH1 haplotypes (CAC and TGC) were significantly associated with the CHE2 C5+ phenotype.
  • These haplotypes correlated with distinct CHE2 C5+ phenotypes: intense (TGC) and faint (CAC).
  • BChE activity was significantly higher in the intense CHE2 C5+ phenotype compared to the faint phenotype.

Conclusions:

  • The study corroborates that the RAPH1 gene is the CHE2 locus.
  • Genetic heterogeneity within RAPH1 contributes to the variable expressivity of CHE2 C5+ phenotypes.
  • This genetic variation influences BChE activity, particularly in individuals with the intense CHE2 C5+ phenotype.