Association studies of candidate genes and cleft lip and palate taking into consideration geographical origin

Baiba Lace, Inga Kempa, Linda Piekuse, Ieva Grinfelde, Janis Klovins, Liana Pliss, Astrida Krumina, Alexandre R. Vieira

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)


Isolated cleft lip and/or palate (CL/CLP) is a complex congenital anomaly with many contributing factors. There are several genes involved in the aetiology of CL/CLP, they are different in selected populations. In a previous study, the mitochondrial haplotypes of Latvian subjects with CL/CLP were characterized. Latvian subjects with CL/CLP have mostly mitochondrial haplogroups U4/U5 compared with the ethnic population of Latvia. The aim of this study was to stratify the results of genotyping based on European mitochondrial DNA (mtDNA) haplotypes. DNA samples from 108 patients with CL/CLP and from 182 unrelated and unaffected individuals selected randomly in Latvia (used as controls) were obtained for investigation. In this study, we analysed the data taking into consideration mitochondrial haplogroups and found that gene associations depended on the genetic origin of the population. The phenotype of patients with non-U haplotypes was associated with markers in wingless-type MMTV integration site family, member 3 (WNT3), collagen, type XI, alpha 2 (COL11A2), and fibroblast growth factor receptor 1 (FGFR1), whereas patients with U4 and U5 haplotypes showed significant association with WNT3 and COL11A2. It is unlikely that mtDNA variants play a direct role in the development of CL/CLP; rather, they may be a surrogate for population substructure and provide a tool to increase homogeneity and statistical power.

Original languageEnglish
Pages (from-to)413-417
Number of pages5
JournalEuropean Journal of Oral Sciences
Issue number6
Publication statusPublished - Dec 2011


  • Collagen, type XI, alpha 2
  • Fibroblast growth factor receptor 1
  • Latvian population
  • WNT3

Field of Science*

  • 3.2 Clinical medicine

Publication Type*

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database


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