Abstract
Non-syndromic cleft lip with or without palate (CL/P) is one of the most common malformations among live births, but most of the genetic components and environmental factors involved remain to be identified. Among the different causes, MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA, was considered a potential candidate, because it was found to be abundantly and specifically expressed in epithelial cells of palatal shelves before fusion. After fusion, its expression level was shown to decrease and to become limited to epithelial triangles before disappearing, as fusion is completed. To determine whether MYH9 plays a role in CL/P aetiology, a family-based association analysis was performed in 218 case/ parent triads using single-nucleotide polymorphism (SNP) markers. Pairwise and multilocus haplotype analyses identified linkage disequilibrium between polymorphism alleles at the MYH9 locus and the disease. The strongest deviation from a null hypothesis of random sharing was obtained with two adjacent SNPs, rs3752462 and rs2009930 (global p value = 0.001), indicating that MYH9 might be a predisposing factor for CL/P, although its pathogenetic role needs to be investigated more accurately.
| Original language | English |
|---|---|
| Pages (from-to) | 387-392 |
| Number of pages | 6 |
| Journal | Journal of Medical Genetics |
| Volume | 44 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Jun 2007 |
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ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Cleft lip with or without cleft palate : Implication of the heavy chain of non-muscle myosin IIA. / Martinelli, Marcella; Di Stazio, Mariateresa; Scapoli, Luca; Marchesini, Jlenia; Di Bari, Filomena; Pezzetti, Furio; Carinci, Francesco; Palmieri, Annalisa; Carinci, Paolo; Savoia, Anna.
In: Journal of Medical Genetics, Vol. 44, No. 6, 06.2007, p. 387-392.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Cleft lip with or without cleft palate
T2 - Implication of the heavy chain of non-muscle myosin IIA
AU - Martinelli, Marcella
AU - Di Stazio, Mariateresa
AU - Scapoli, Luca
AU - Marchesini, Jlenia
AU - Di Bari, Filomena
AU - Pezzetti, Furio
AU - Carinci, Francesco
AU - Palmieri, Annalisa
AU - Carinci, Paolo
AU - Savoia, Anna
PY - 2007/6
Y1 - 2007/6
N2 - Non-syndromic cleft lip with or without palate (CL/P) is one of the most common malformations among live births, but most of the genetic components and environmental factors involved remain to be identified. Among the different causes, MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA, was considered a potential candidate, because it was found to be abundantly and specifically expressed in epithelial cells of palatal shelves before fusion. After fusion, its expression level was shown to decrease and to become limited to epithelial triangles before disappearing, as fusion is completed. To determine whether MYH9 plays a role in CL/P aetiology, a family-based association analysis was performed in 218 case/ parent triads using single-nucleotide polymorphism (SNP) markers. Pairwise and multilocus haplotype analyses identified linkage disequilibrium between polymorphism alleles at the MYH9 locus and the disease. The strongest deviation from a null hypothesis of random sharing was obtained with two adjacent SNPs, rs3752462 and rs2009930 (global p value = 0.001), indicating that MYH9 might be a predisposing factor for CL/P, although its pathogenetic role needs to be investigated more accurately.
AB - Non-syndromic cleft lip with or without palate (CL/P) is one of the most common malformations among live births, but most of the genetic components and environmental factors involved remain to be identified. Among the different causes, MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA, was considered a potential candidate, because it was found to be abundantly and specifically expressed in epithelial cells of palatal shelves before fusion. After fusion, its expression level was shown to decrease and to become limited to epithelial triangles before disappearing, as fusion is completed. To determine whether MYH9 plays a role in CL/P aetiology, a family-based association analysis was performed in 218 case/ parent triads using single-nucleotide polymorphism (SNP) markers. Pairwise and multilocus haplotype analyses identified linkage disequilibrium between polymorphism alleles at the MYH9 locus and the disease. The strongest deviation from a null hypothesis of random sharing was obtained with two adjacent SNPs, rs3752462 and rs2009930 (global p value = 0.001), indicating that MYH9 might be a predisposing factor for CL/P, although its pathogenetic role needs to be investigated more accurately.
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UR - http://www.scopus.com/inward/citedby.url?scp=34250750252&partnerID=8YFLogxK
U2 - 10.1136/jmg.2006.047837
DO - 10.1136/jmg.2006.047837
M3 - Article
C2 - 17337617
AN - SCOPUS:34250750252
VL - 44
SP - 387
EP - 392
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
SN - 0022-2593
IS - 6
ER -