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

Lace, B and Kempa, I and Piekuse, L and Grinfelde, I and Klovins, J and Pliss, L and Krumina, A and Vieira, AR (2011) Association studies of candidate genes and cleft lip and palate taking into consideration geographical origin. European Journal of Oral Sciences, 119 (6). 413 - 417. ISSN 0909-8836

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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. © 2011 Eur J Oral Sci.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Lace, B
Kempa, I
Piekuse, L
Grinfelde, I
Klovins, J
Pliss, L
Krumina, A
Vieira, ARarv11@pitt.eduARV11
Date: 1 December 2011
Date Type: Publication
Journal or Publication Title: European Journal of Oral Sciences
Volume: 119
Number: 6
Page Range: 413 - 417
DOI or Unique Handle: 10.1111/j.1600-0722.2011.00877.x
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 0909-8836
MeSH Headings: Case-Control Studies; Cleft Lip--ethnology; Cleft Lip--genetics; Cleft Palate--ethnology; Cleft Palate--genetics; Collagen Type XI--genetics; DNA, Mitochondrial--genetics; Databases, Genetic; Ethnic Groups--genetics; Female; Genetic Association Studies; Haplotypes--genetics; Humans; Latvia--ethnology; Male; Reference Values; Wnt3 Protein--genetics
PubMed ID: 22112025
Date Deposited: 24 Sep 2012 19:18
Last Modified: 20 Feb 2020 13:55


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