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Full-Text Articles in Medicine and Health Sciences
Genetic Determinants Of Facial Clefting: Analysis Of 357 Candidate Genes Using Two National Cleft Studies From Scandinavia, A. Jugessur, M. Shi, H. K. Gjessing, R. T. Lie, A. J. Wilcox, C. R. Weinberg, K. Christensen, A. L. Boyles, Sandra Daack-Hirsch, T. N. Trung, C. Bille, A. C. Lidral, J. C. Murray
Genetic Determinants Of Facial Clefting: Analysis Of 357 Candidate Genes Using Two National Cleft Studies From Scandinavia, A. Jugessur, M. Shi, H. K. Gjessing, R. T. Lie, A. J. Wilcox, C. R. Weinberg, K. Christensen, A. L. Boyles, Sandra Daack-Hirsch, T. N. Trung, C. Bille, A. C. Lidral, J. C. Murray
Sandra Daack-Hirsch
BACKGROUND: Facial clefts are common birth defects with a strong genetic component. To identify fetal genetic risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark: 235 case-parent triads). METHODOLOGY/PRINCIPAL FINDINGS: We used two complementary statistical methods, TRIMM and HAPLIN, to look for associations across these two national samples. TRIMM tests for association in each gene by using multi-SNP genotypes from case-parent triads directly without the need to infer haplotypes. HAPLIN on the other hand estimates the full haplotype distribution over a set of …
Genetic Determinants Of Facial Clefting: Analysis Of 357 Candidate Genes Using Two National Cleft Studies From Scandinavia, A. Jugessur, M. Shi, H. K. Gjessing, R. T. Lie, A. J. Wilcox, C. R. Weinberg, K. Christensen, A. L. Boyles, Sandra Daack-Hirsch, T. N. Trung, C. Bille, A. C. Lidral, J. C. Murray
Genetic Determinants Of Facial Clefting: Analysis Of 357 Candidate Genes Using Two National Cleft Studies From Scandinavia, A. Jugessur, M. Shi, H. K. Gjessing, R. T. Lie, A. J. Wilcox, C. R. Weinberg, K. Christensen, A. L. Boyles, Sandra Daack-Hirsch, T. N. Trung, C. Bille, A. C. Lidral, J. C. Murray
Sandra Daack-Hirsch
BACKGROUND: Facial clefts are common birth defects with a strong genetic component. To identify fetal genetic risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark: 235 case-parent triads). METHODOLOGY/PRINCIPAL FINDINGS: We used two complementary statistical methods, TRIMM and HAPLIN, to look for associations across these two national samples. TRIMM tests for association in each gene by using multi-SNP genotypes from case-parent triads directly without the need to infer haplotypes. HAPLIN on the other hand estimates the full haplotype distribution over a set of …
Candidate Genes For Nonsyndromic Cleft Lip And Palate And Maternal Cigarette Smoking And Alcohol Consumption: Evaluation Of Genotype-Environment Interactions From A Population-Based Case-Control Study Of Orofacial Clefts, P. Romitti, A. Lidral, R. Munger, Sandra Daack-Hirsch, T. Burns, J. Murray
Candidate Genes For Nonsyndromic Cleft Lip And Palate And Maternal Cigarette Smoking And Alcohol Consumption: Evaluation Of Genotype-Environment Interactions From A Population-Based Case-Control Study Of Orofacial Clefts, P. Romitti, A. Lidral, R. Munger, Sandra Daack-Hirsch, T. Burns, J. Murray
Sandra Daack-Hirsch
Previous studies suggest that the relationship between genes and nonsyndromic cleft lip +/- cleft palate (CLP) or cleft palate only (CP) may be modified by the environment. Using data from a population-based case-control study, we examined allelic variants for three genes, i.e., transforming growth factor alpha (TGFA), transforming growth factor beta 3 (TGFB3), and Msh (Drosophila) homeobox homolog 1 (MSX1), and their interactions with two exposures during pregnancy (maternal cigarette smoking and alcohol consumption) as risk factors for CLP and CP. For each cleft phenotype, risk estimates associated with most allelic variants tended to be near unity. Risk estimates for …
Clinical And Epidemiologic Studies Of Cleft Lip And Palate In The Philippines, J. Murray, Sandra Daack-Hirsch, K. Buetow, R. Munger, L. Espina, N. Paglinawan, E. Villanueva, J. Rary, K. Magee, W. Magee
Clinical And Epidemiologic Studies Of Cleft Lip And Palate In The Philippines, J. Murray, Sandra Daack-Hirsch, K. Buetow, R. Munger, L. Espina, N. Paglinawan, E. Villanueva, J. Rary, K. Magee, W. Magee
Sandra Daack-Hirsch
Clinical and epidemiologic studies of defined geographic populations can serve as a means of establishing data important for genetic counseling and as a first step in identifying strategies best suited for identification of causes. Under the sponsorship of Operation Smile International, clinical, genetic, and epidemiologic studies were carried out at six sites within the Philippines between 1989 and 1996. Patients who were being evaluated for surgical repair of craniofacial anomalies (primarily clefts of the lip and palate) were briefly examined for the presence of associated anomalies, and a family history was obtained to look for the frequency of cleft lip …