Lina M. Moreno's research while affiliated with University of Iowa and other places
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Publications (81)
The human face is a highly complex and variable structure resulting from the intricate coordination of numerous genetic and non-genetic factors. Hundreds of genomic loci impacting quantitative facial features have been identified. While these associations have been shown to influence morphology by altering the mean size and shape of facial measures...
Modern human palate shape has been reported to vary by sex and ancestry, but limitations in the methods used to quantify shape and in population coverage have led to inconsistent findings. In the present study, the authors aim to characterize the effects of sex and ancestry on normal-range three-dimensional palate shape through landmark-based morph...
The contribution of low-frequency variants to the genetic architecture of normal-range facial traits is unknown. We studied the influence of low-frequency coding variants (MAF < 1%) in 8091 genes on multi-dimensional facial shape phenotypes in a European cohort of 2329 healthy individuals. Using three-dimensional images, we partitioned the full fac...
Objectives: Torus Palatinus (TP) is a bony projection located on the oral surface of the hard palate. The trait is typically benign, has an unknown etiology, and varies widely in phenotypic expression. Prior studies suggest differences in TP prevalence by sex and ancestry, but the reported rates vary, even within a single ancestral group. We assess...
Objective:
The unaffected relatives of individuals with nonsyndromic orofacial clefts have been shown to exhibit subtle craniofacial differences compared with the general population. Here, we investigate whether these morphological differences extend to the shape of the palate.
Design:
We conducted a geometric morphometric analysis to compare pala...
Objectives: Torus Palatinus (TP) is a bony projection located on the oral surface of the hard palate. The trait is typically benign, has an unknown etiology, and varies widely in phenotypic expression. Prior studies suggest differences in TP prevalence by sex and population, but the reported rates vary, even within a single ancestral group. We asse...
Objectives: Modern human palate shape has been reported to vary by sex and ancestry, but limitations in the methods used to quantify shape and in population coverage have led to inconsistent findings. In the present study, we aim to characterize the effects of sex and ancestry on normal-range three-dimensional palate shape through landmark-based mo...
Objective: The unaffected relatives of individuals with non-syndromic orofacial clefts have been shown to exhibit subtle craniofacial differences compared with the general population. Here, we investigate whether these morphological differences extend to the shape of the palate.
Design: We conducted a geometric morphometric analysis to compare pal...
The contribution of low-frequency variants to the genomic architecture of normal-range facial traits is unknown. Therefore, we studied the influence of 31347 low-frequency coding variants (MAF < 1%) in 8091 genes on multi-dimensional facial shape phenotypes in a European cohort of 2329 healthy individuals. Using three-dimensional facial images, we...
Orofacial clefts (OFCs) are among the most prevalent craniofacial birth defects worldwide and create a significant public health burden. The majority of OFCs are non-syndromic, and the genetic etiology of non-syndromic OFCs is only partially determined. Here, we analyze whole genome sequence (WGS) data for association with risk of OFCs in European...
Orofacial clefts (OFCs) are one of the most common birth defects worldwide and create a significant health burden. The majority of OFCs are non-syndromic, and the genetic component has been only partially determined. Here, we analyze whole genome sequence (WGS) data for association with risk of OFCs in European and Colombian families selected from...
Phenotypic heterogeneity is a hallmark of complex traits, and genetic studies of such traits may focus on them as a single diagnostic entity or by analyzing specific components. For example, in orofacial clefting (OFC), three subtypes—cleft lip (CL), cleft lip and palate (CLP), and cleft palate (CP) have been studied separately and in combination....
Genome‐wide scans have shown that common risk alleles for orofacial clefts (OFC) tend to be located in noncoding regulatory elements and cumulatively explain only part of the heritability of OFCs. Low‐frequency variants may account for some of the “missing” heritability. Therefore, we scanned low‐frequency variants located within putative craniofac...
Results of the meta-analysis in the post-pubertal subset. Representation of the significant modules of the meta-analysis based on the different discovery datasets.
Complete meta-analysis results for all 32 SNPs tested on the 63 3D facial modules.
List of 44 candidate SNPs selected from the literature.
Five facial ratios tested for association with the candidate SNPs. (A) Total facial width to height ratio (Total FWH). (B) Upper facial width to height ratio – version 1 (Upper FWH1). (C) Upper facial width to height ratio – version 2 (Upper FWH2). (D) Lower facial width to height ratio (Lower FWH). (E) Upper to lower facial width ratio (Upper:Lowe...
Many factors influence human facial morphology, including genetics, age, nutrition, biomechanical forces, and endocrine factors. Moreover, facial features clearly differ between males and females, and these differences are driven primarily by the influence of sex hormones during growth and development. Specific genetic variants are known to influen...
Results for the 42 candidate SNPs tested for association with five facial ratios in the 3DFN cohort.
En este artículo se presenta un análisis epidemiológico genético de un grupo de familias afectadas de labio hendido con o sin paladar hendido (LH±PH) seleccionadas de la población de Antioquia (Colombia). La finalidad es discriminar el componente genético y el componente ambiental involucrados en la susceptibilidad para desarrollar LH±PH. En primer...
The present study was undertaken to examine the pattern inheritance of Cleft Lip/Palate (CLP) in pedigrees ascertained from Antioquia, Colombia. Ninety-five extended and multigenerational pedigrees, constituted by 201 nuclear components and 1.136 records were analyzed. Ten hypothetical models were contrasted using likelihood ratio tests. The hypoth...
The genetic basis of earlobe attachment has been a matter of debate since the early 20th century, such that geneticists argue both for and against polygenic inheritance. Recent genetic studies have identified a few loci associated with the trait, but large-scale analyses are still lacking. Here, we performed a genome-wide association study of lobe...
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a group of common human birth defects with complex etiology. Although genome-wide association studies have successfully identified a number of risk loci, these loci only account for about 20% of the heritability of orofacial clefts. The "missing" heritability may be found in rare varia...
Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have historically been analyzed as distinct entities. Genes...
Manhattan plots for lower facial height.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
Final number of SNPs used in our analysis.
(DOCX)
Associations with p-values < 5 x 10−7 for all 20 traits from genome-wide analysis of the Pittsburgh sample.
(XLSX)
Manhattan plots for subnasal width.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
Manhattan plots for nasal ala length.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
Manhattan plots for intercanthal width.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
Manhattan plots for philtrum length.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
Manhattan plots for nasal bridge length.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
Manhattan plots for nasal height.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
LocusZoom plots comparing the (A) discovery analysis, and (B) conditional analysis for the observed genetic association of nasal width near PAX1 at 20p11.22. Genetic association (left y-axis; log10-transformed p-values) is shown for genotyped SNPs depicted as stars and imputed SNPs depicted as circles. Shading of the points represent the linkage di...
Manhattan plots for labial fissure width.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
Plot showing population stratification across the first two principal components of ancestry (EV1 and EV2).
The proportion of total genetic variation explained by each principal component of ancestry is indicated on the axis.
(PDF)
Associations with p-values < 5 x 10−7 for all 20 traits from genome-wide analysis of the Denver sample.
(XLSX)
Numerous lines of evidence point to a genetic basis for facial morphology in humans, yet little is known about how specific genetic variants relate to the phenotypic expression of many common facial features. We conducted genome-wide association meta-analyses of 20 quantitative facial measurements derived from the 3D surface images of 3118 healthy...
Descriptive statistics of the two study samples.
(DOCX)
Manhattan plots for middle facial depth.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
List of linear distance measurements.
(DOCX)
Manhattan plots for lower facial depth.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
Number of SNPs omitted and retained for each quality filter.
(DOCX)
Manhattan plots for morphological facial height.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
Manhattan plots for cranial base width.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
Manhattan plots for outercanthal width.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
3D facial surface model showing the location of the 24 standard landmarks used to generate the linear distances.
Landmarks shown in frontal view (A) are n = nasion; prn = pronasale; sn = subnasale; ls = labiale superius; sto = stomion; li = labiale inferius; sl = sublabiale; gn = gnathion; en = endocanthion; ex = exocanthion; al = alare; sbal = sub...
Manhattan plots for palpebral fissure width.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
Associations with p-values < 5 x 10−7 for all 20 traits from genome-wide meta-analysis.
(XLSX)
Manhattan plots for nasal protrusion.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
Manhattan plots for upper facial depth.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
Manhattan plots for lower lip height.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
Manhattan plots for upper facial height.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
Manhattan plots for nasal width.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
Manhattan plots for upper lip height.
(A) meta-analysis results, (B) Pittsburgh sample results, and (C) Denver sample results. Lines for p-value thresholds set at 5 x 10−8 for genome-wide significance and 5 x 10−7 for suggestive significance.
(PDF)
Objective:
Since the 1960s, multiple studies have reported a tendency toward hypertelorism in individuals with nonsyndromic orofacial clefts (OFCs). However, the association between specific cleft types and increased interorbital distance has been inconsistent. Using three-dimensional (3D) surface imaging, we tested whether different forms of clef...
Background:
Although craniofacial sex differences have been extensively studied in humans, relatively little is known about when various dimorphic features manifest during postnatal life. Using cross-sectional data derived from the 3D Facial Norms data repository, we tested for sexual dimorphism of craniofacial soft-tissue morphology at different...
Maternal cigarette smoking is a well-established risk factor for oral clefts. Evidence is less clear for passive (secondhand) smoke exposure. We combined individual-level data from 4 population-based studies (the Norway Facial Clefts Study, 1996-2001; the Utah Child and Family Health Study, 1995-2004; the Norwegian Mother and Child Cohort Study, 19...
Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common
birth defects in humans, affecting approximately 1 in 700 newborns. CL/P is phenotypically heterogeneous and has a complex
etiology caused by genetic and environmental factors. Previous genome-wide association studies (GWASs...
Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few genes associated with risk for nonsyndromic CP have been characterized. To identify such risk factors...
With the current widespread use of three-dimensional (3D) facial surface imaging in clinical and research environments, there is a growing demand for high-quality craniofacial norms based on 3D imaging technology. The principal goal of the 3D Facial Norms (3DFN) project was to create an interactive, Web-based repository of 3D facial images and meas...
Dental arch form has been a major subject of investigation in the dental sciences, however, little is known about the genetic etiology of arch form and arch occlusal relationships. This study seeks to examine the potential genetic underpinnings of dental arch form and malocclusion. A sample of n=272 dental casts of the mixed dentition stage (around...
Wound healing and scar remodeling are part of the normal tissue repair process occurring after injuries and surgical procedures. No two individuals heal equally, and it is well known that wound healing outcomes vary widely in apparently healthy individuals, suggesting that genetic factors contribute to tissue repair. We took advantage of facial ima...
Genotyping data of ECLAMC cleft lip and palate trios.
(PDF)
Previous evidence from tooth agenesis studies suggested IRF6 and TGFA interact. Since tooth agenesis is commonly found in individuals with cleft lip/palate (CL/P), we used four large cohorts to evaluate if IRF6 and TGFA interaction contributes to CL/P. Markers within and flanking IRF6 and TGFA genes were tested using Taqman or SYBR green chemistrie...
This study uses instrumental variable (IV) models with genetic instruments to assess the effects of maternal smoking on the child's risk of orofacial clefts (OFC), a common birth defect. The study uses genotypic variants in neurotransmitter and detoxification genes relateded to smoking as instruments for cigarette smoking before and during pregnanc...
There is a large literature showing the detrimental effects of prenatal smoking on birth and childhood health outcomes. It is somewhat unclear though, whether these effects are causal or reflect other characteristics and choices by mothers who choose to smoke that may also affect child health outcomes or biased reporting of smoking. In this paper w...
Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significa...
Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significa...
Nonsyndromic orofacial clefts are a common complex birth defect caused by genetic and environmental factors and/or their interactions.
A previous genome-wide linkage scan discovered a novel locus for cleft lip with or without cleft palate (CL/P) at 9q22–q33.
To identify the etiologic gene, we undertook an iterative and complementary fine mapping st...
Visceral leishmaniasis (VL) in northeast Brazil is a disease caused by infection with the protozoan Leishmania chagasi. Infection leads to variable clinical outcomes ranging from asymptomatic infection to potentially fatal disease. Prior studies suggest the genetic background of the host contributes to the development of different outcomes after in...
Cleft lip with or without cleft palate is the most common facial birth defect and it is caused by a complex interaction between genetic and environmental factors. The purpose of this review is to provide an overview of the spectrum of the genetic causes for cleft lip and cleft palate using both syndromic and nonsyndromic forms of clefting as exampl...
Non-syndromic cleft lip with or without cleft palate (NSCLP) results from the complex interaction between genes and environmental factors. Candidate gene analysis and genome scans have been employed to identify the genes contributing to NSCLP. In this study, we evaluated the 16q24.1 chromosomal region, which has been identified by multiple genome s...
Orofacial clefts are common birth defects with a known genetic component to their etiology. Most orofacial clefts are nonsyndromic, isolated defects, which can be separated into two different phenotypes: (1) cleft lip with or without cleft palate and (2) cleft palate only. Both are genetically complex traits, which has limited the ability to identi...
Isolated or nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex etiology. A 10-cM genome scan of 388 extended multiplex families with CL/P from seven diverse populations (2,551 genotyped individuals) revealed CL/P genes in six chromosomal regions, including a novel region at 9q21 (heterogeneity LOD sco...
Cleft lip or palate (or the two in combination) is a common birth defect that results from a mixture of genetic and environmental factors. We searched for a specific genetic factor contributing to this complex trait by examining large numbers of affected patients and families and evaluating a specific candidate gene.
We identified the gene that enc...
Non-syndromic cleft lip with or without cleft palate (CL/P) is a genetically complex birth defect, with a prevalence from 1/500 to 1/1,000 live births. Evidence from linkage and linkage disequilibrium studies is contradictory suggesting that heterogeneity between study populations may exist. A recent report of a genome widescan in 92 sib pairs from...
Interferon regulatory factor 6 (IRF6) belongs to a family of nine transcription factors that share a highly conserved helix-turn-helix DNA-binding domain and a less conserved protein-binding domain. Most IRFs regulate the expression of interferon-alpha and -beta after viral infection, but the function of IRF6 is unknown. The gene encoding IRF6 is l...
Citations
... Marker allele frequencies are required by linkage analysis approaches and were estimated in the founders of the families, separately by country due to the diverse ethnicities. Other genetic model parameters are summarized in table 3 , and were taken from the results of segregation analysis (Philippines -unpublished results; China [10] ; India [50] ; Colombia [51] ; Caucasians [9,52,53] ). ...
... Most research on Prickle-regulated vertebrate organogenesis shown in this subchapter seems to be PCP-dependent, at least based on the studies done predominantly on mouse embryos with mutated Prickle1 [66][67][68]. As mentioned earlier, since the mouse null mutant of Prickle1 is not viable, this early embryonic lethality must be somehow bypassed to further study the role of Prickle in organogenesis. ...
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... Rare variants are naturally expected to have larger effect sizes when detectable, and they can therefore bridge some of the gap between results from GWASs focusing on common variants and craniofacial disorders (syndromic or nonsyndromic). Few studies have assessed the impact of rare variants on facial shape due to the larger sample sizes required, but a recent study that focused on variants with <1% frequency and performed gene-based tests found seven genes to be enriched for rare variants affecting facial shape (94). One such gene, NECTIN1, has known roles in cranio-facial development and is associated with a syndrome (cleft lip/palate-ectodermal dysplasia syndrome), but, interestingly, the authors found no evidence of common variant associations within or near these seven genes. ...
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