ACSS2 Gene Variant Associated With Cleft Lip and Palate in Two Independent Hispanic Populations

Laryngoscope. 2017 Oct;127(10):E336-E339. doi: 10.1002/lary.26637. Epub 2017 May 23.

Abstract

Objectives/hypothesis: A candidate variant (p.Val496Ala) of the ACSS2 gene (T > C missense, rs59088485 variant at chr20: bp37 33509608) was previously found to consistently segregate with nonsyndromic cleft lip and/or palate (NSCLP) in three Honduran families. Objectives of this study were 1) to investigate the frequency of this ACSS2 variant in Honduran unrelated NSCLP patients and unrelated unaffected controls and 2) to investigate the frequency of this variant in Colombian unrelated affected NSCLP patients and unrelated unaffected controls.

Study design: Case-control studies.

Methods: Sanger sequencing of 99 unrelated Honduran NSCLP patients and 215 unrelated unaffected controls for the p.Val496Ala ACSS2 variant was used to determine the carrier frequency in NSCLP patients and controls. Sanger sequencing of 230 unrelated Colombian NSCLP patients and 146 unrelated unaffected controls for the p.Val496Ala ACSS2 variant was used to determine the carrier frequency in NSCLP patients and controls.

Results: In the Honduran population, the odds ratio of having NSCLP among carriers of the p.Val496Ala ACSS2 variant was 4.0 (P = .03), with a carrier frequency of seven of 99 (7.1%) in unrelated affected and four of 215 (1.9%) in unrelated unaffected individuals. In the Colombian population, the odds ratio of having NSCLP among carriers of the p.Val496Ala ACSS2 variant was 2.6 (P = .04), with a carrier frequency of 23 of 230 (10.0%) in unrelated affected and six of 146 (4.1%) in unrelated unaffected individuals.

Conclusions: These findings support the role of ACSS2 in NSCLP in two independent Hispanic populations from Honduras and Colombia.

Level of evidence: NA Laryngoscope, 127:E336-E339, 2017.

Keywords: ACSS2; Amerindian; Colombia; Honduras; cleft; lip; nonsyndromic cleft lip and/or palate; palate.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Acetate-CoA Ligase / blood
  • Acetate-CoA Ligase / genetics*
  • Brain / abnormalities*
  • Case-Control Studies
  • Child, Preschool
  • Cleft Lip / blood
  • Cleft Lip / genetics*
  • Cleft Palate / blood
  • Cleft Palate / genetics*
  • Colombia
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Honduras
  • Humans
  • Male
  • Odds Ratio
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA / methods

Substances

  • ACSS2 protein, human
  • Acetate-CoA Ligase

Supplementary concepts

  • Orofacial Cleft 1