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Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate

Letra, A and Menezes, R and Govil, M and Fonseca, RF and McHenry, T and Granjeiro, JM and Castilla, EE and Orioli, IM and Marazita, ML and Vieira, AR (2010) Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. American Journal of Medical Genetics, Part A, 152 (7). 1701 - 1710. ISSN 1552-4825

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Cleft lip/palate comprises a large fraction of all human birth defects, and is notable for its significant lifelong morbidity and complex etiology. Several studies have shown that genetic factors appear to play a significant role in the etiology of cleft lip/palate. Human chromosomal region 9q21 has been suggested in previous reports to contain putative cleft loci. Moreover, a specific region (9q22.3-34.1) was suggested to present a ∼45% probability of harboring a cleft susceptibility gene. Fine mapping of 50 SNPs across the 9q22.3-34.11 region was performed to test for association with cleft lip/palate in families from United States, Spain, Turkey, Guatemala, and China. We performed familybased analyses and found evidence of association of cleft lip/ palate with STOM(rs306796) in Guatemalan families (P = 0.004) and in all multiplex families pooled together (P = 0.002). This same SNP also showed borderline association in the US families (P = 0.04). Under a nominal value of 0.05, other SNPs also showed association with cleft lip/palate and cleft subgroups. SNPs in STOM and PTCH genes and nearby FOXE1 were further associated with cleft phenotypes in Guatemalan and Chinese families. Gene prioritization analysis revealed PTCH and STOM ranking among the top fourteen candidates for cleft lip/palate among 339 genes present in the region. Our results support the hypothesis that the 9q22.32-34.1 region harbors cleft susceptibility genes. Additional studies with other populations should focuson these loci to further investigate the participation of these genes in human clefting. © 2010 Wiley-Liss, Inc.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Letra, A
Menezes, R
Govil, M
Fonseca, RF
McHenry, T
Granjeiro, JM
Castilla, EE
Orioli, IM
Marazita, MLmarazita@pitt.eduMARAZITA
Vieira, ARarv11@pitt.eduARV11
Date: 1 January 2010
Date Type: Publication
Journal or Publication Title: American Journal of Medical Genetics, Part A
Volume: 152
Number: 7
Page Range: 1701 - 1710
DOI or Unique Handle: 10.1002/ajmg.a.33482
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 1552-4825
MeSH Headings: China; Chromosomes, Human, Pair 9--genetics; Cleft Lip--genetics; Cleft Palate--genetics; Family; Follow-Up Studies; Genetic Association Studies; Genetic Markers; Guatemala; Haplotypes--genetics; Humans; Physical Chromosome Mapping; Polymorphism, Single Nucleotide--genetics
Other ID: NLM NIHMS194215, NLM PMC2898904
PubMed Central ID: PMC2898904
PubMed ID: 20583170
Date Deposited: 20 Sep 2012 17:56
Last Modified: 20 Feb 2020 13:55


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