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A new approach to chromosome-wide analysis of X-linked markers identifies new associations in Asian and European case-parent triads of orofacial clefts

Excellence funding scheme, project number 262700. Author Contributions Conceptualization: Håkon K. Gjessing, Rolv T. Lie, Astanand Jugessur. Data curation: Øivind Skare, Håkon K. Gjessing, Astanand Jugessur ... . 19 / 23 Formal analysis: Øivind Skare, Håkon K. Gjessing, Miriam Gjerdevik, Øystein A. Haaland, Astanand Jugessur. Funding acquisition: Håkon K. Gjessing, Rolv T. Lie, Astanand Jugessur

Genome-wide analysis of parent-of-origin interaction effects with environmental exposure (PoOxE): An application to European and Asian cleft palate trios

Jugessur, Miriam Gjerdevik, Terri H. Beaty, Mary L. Marazita, Jeffrey C. Murray, Rolv T. Lie, Håkon K. Gjessing. Data curation: Øystein A. Haaland, Min Shi. Formal analysis: Øystein A. Haaland, Astanand ... Jugessur, Miriam Gjerdevik, Julia Romanowska, Rolv T. Lie, Håkon K. Gjessing. Funding acquisition: Astanand Jugessur, Terri H. Beaty, Mary L. Marazita, Jeffrey C. Murray, Allen J. Wilcox, Rolv T. Lie

Maternal angiotensinogen (AGT) haplotypes, fetal renin (REN) haplotypes and risk of preeclampsia; estimation of gene-gene interaction from family-triad data

Background Preeclampsia is a debilitating disorder affecting approximately 3% of pregnant women in the Western world. Although inconclusive, current evidence suggests that the renin-angiotensin system may be involved in hypertension. Therefore, our objective was to determine whether the genes for placental renin (REN) and maternal angiotensinogen (AGT) interact to influence the...

X-Linked Genes and Risk of Orofacial Clefts: Evidence from Two Population-Based Studies in Scandinavia

Background Orofacial clefts are common birth defects of complex etiology, with an excess of males among babies with cleft lip and palate, and an excess of females among those with cleft palate only. Although genes on the X chromosome have been implicated in clefting, there has been no association analysis of X-linked markers. Methodology/Principal Findings We added new...

Maternal Alcohol Consumption, Alcohol Metabolism Genes, and the Risk of Oral Clefts: A Population-based Case-Control Study in Norway, 1996–2001

of Public Health, Oslo, Norway (Astanand Jugessur); Craniofacial Research, Musculoskeletal Disorders, Murdoch Childrens Research Institute, Royal Childrens Hospital, Parkville, Victoria, Australia ... (Astanand Jugessur); and Departments of Pediatrics, Epidemiology, and Biological Sciences, College of Public Health, University of Iowa, Iowa City, Iowa (Jeffrey C. Murray). Drs. Abee L. Boyles and Lisa A

X-Chromosomal Maternal and Fetal SNPs and the Risk of Spontaneous Preterm Delivery in a Danish/Norwegian Genome-Wide Association Study

Background Recent epidemiological studies suggest that the maternal genome is an important contributor to spontaneous preterm delivery (PTD). There is also a significant excess of males among preterm born infants, which may imply an X-linked mode of inheritance for a subset of cases. To explore this, we examined the effect of maternal and fetal X-chromosomal single nucleotide...

Maternal Genes and Facial Clefts in Offspring: A Comprehensive Search for Genetic Associations in Two Population-Based Cleft Studies from Scandinavia

Background Fetal conditions can in principle be affected by the mother's genotype working through the prenatal environment. Methodology/Principal Findings Genotypes for 1536 SNPs in 357 cleft candidate genes were available from a previous analysis in which we focused on fetal gene effects [1]. After data-cleaning, genotypes for 1315 SNPs in 334 autosomal genes were available for...

Genetic Determinants of Facial Clefting: Analysis of 357 Candidate Genes Using Two National Cleft Studies from Scandinavia

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...

FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate

Jamie L'Heureux 8 Consuelo Valencia-Ramirez 14 Dora Rivera 14 Ana Maria Lo pez 14 Manuel A. Moreno 13 Anne Hing 12 Edward J. Lammer 17 Marilyn Jones 16 Kaare Christensen 11 Rolv T. Lie 6 Astanand Jugessur

Exploring the Effects of Methylenetetrahydrofolate Reductase Gene Variants C677T and A1298C on the Risk of Orofacial Clefts in 261 Norwegian Case-Parent Triads

Folic acid and the methylenetetrahydrofolate reductase (MTHFR) gene have both been implicated in the etiology of orofacial clefts. The authors selected 261 case-parent triads (173 cases with cleft lip with or without cleft palate (CL/P) and 88 cases with cleft palate only (CPO)) from a Norwegian population-based study of orofacial clefts (May 1996–1998). A case-parent triad...