scholarly journals Investigation of candidate genes of non-syndromic cleft lip with or without cleft palate, using both case–control and family-based association studies

Medicine ◽  
2019 ◽  
Vol 98 (26) ◽  
pp. e16170 ◽  
Author(s):  
Xing Ge ◽  
Jia-Wei Hong ◽  
Jun-Yu Shen ◽  
Zheng Li ◽  
Rui Zhang ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Candidate Genes ◽  
Cleft Lip ◽  
Association Studies ◽  
Case Control ◽  
Family Based

scholarly journals Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies.

1993 ◽  
Vol 30 (9) ◽  
pp. 773-778 ◽  
Author(s):  
G M Vintiner ◽  
K K Lo ◽  
S E Holder ◽  
R M Winter ◽  
S Malcolm
Keyword(s):  
Cleft Palate ◽  
Candidate Genes ◽  
Cleft Lip ◽  
Association Studies

scholarly journals Genetic Association Studies of Cleft Lip and/or Palate with Hypodontia outside the Cleft Region

2003 ◽  
Vol 40 (3) ◽  
pp. 274-279 ◽  
Author(s):  
Rebecca L. Slayton ◽  
Laura Williams ◽  
Jeffrey C. Murray ◽  
James J. Wheeler ◽  
Andrew C. Lidral ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Candidate Genes ◽  
Cleft Lip ◽  
Transforming Growth Factor ◽  
Cleft Lip And Palate ◽  
Association Studies ◽  
Polymorphism Analysis ◽  
Missing Teeth ◽  
Orofacial Clefting ◽  
Genotype Information

Objective The purpose of this study was to determine whether the candidate genes previously studied in subjects with cleft lip, cleft palate, or both are associated with hypodontia outside the region of the cleft. Subjects One hundred twenty subjects from the Iowa Craniofacial Anomalies Research Center were selected based on the availability of both dental records and genotype information. Method The type of orofacial clefting and type and location of dental anomalies (missing teeth, supernumerary teeth, or peg laterals) were assessed by dental chart review and radiographic examination. Genotype analysis of candidate genes was performed using polymerase chain reaction/single-strand conformation polymorphism analysis. Results The prevalence of hypodontia in this sample was 47.5%, with 30.0% of subjects having missing teeth outside the cleft. There was a positive association between subjects with cleft lip or cleft lip and palate who had hypodontia outside the cleft region (compared with noncleft controls) and both muscle segment homeo box homolog 1 (MSX1) (p = .029) and transforming growth factor beta 3 (TGFB3) (p = .024). It was not possible in this analysis to determine whether this association was specifically associated with orofacial clefting combined with hypodontia or whether it was due primarily to the clefting phenotype. Conclusions In this sample, there was a significantly greater incidence of hypodontia outside the cleft region in subjects with cleft lip and palate, compared with cleft lip only or cleft palate only. Cleft lip and/or palate with hypodontia outside the cleft region was positively associated with both TGFB3 and MSX1, compared with noncleft controls.

Studies of the Candidate Genes TGFB2, MSX1,TGFA, and TGFB3 in the Etiology of Cleft Lip and Palate in the Philippines

1997 ◽  
Vol 34 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Andrew C. Lidral ◽  
Jeffrey C. Murray ◽  
Kenneth H. Buetow ◽  
Ann M. Basart ◽  
Heidi Schearer ◽  
...  
Keyword(s):  
Growth Factor ◽  
Candidate Genes ◽  
Cleft Lip ◽  
Transforming Growth Factor ◽  
Cleft Lip And Palate ◽  
Association Studies ◽  
Population Based ◽  
The Philippines ◽  
Medical Organization ◽  
Family Based

Population-based candidate-gene studies can be an effective strategy for identifying genes involved in the etiology of disorders where family-based linkage studies are compromised by lack of access to affected members, low penetrance, and/or genetic heterogeneity. We evaluated association data for four candidate genes using a population from the Philippines that Is genetically separate from previously studied Caucasian populations. Case ascertainment was made possible by collaboration with Operation Smile, a volunteer medical organization, which facilitated Identification of a large number of cases for study. A new allelic variant of transforming growth factor-beta3 was identified to use in these studies. After exclusion of syndromic cases of cleft lip and palate, no evidence for association with previously reported allelic variants of transforming growth factor-beta2 (TGFB2), homeobox 7 (MSX1), or transforming growth factor-alpha (TGFA), or with the new TGFB3 variant was detected. Previous association studies using Caucasian populations of nonsyndromic cleft lip and/or palate (CUP) and cleft palate only (CPO) have strongly suggested a role for TGFA in the susceptibility of clefting in humans. Exclusion of significant association in a non-Caucasian population for TGFA suggests that TGFA plays less of a role than it does in Caucasians. This may be due to multiple or different genetic and/or environmental factors contributing to the etiology of this most common craniofacial anomaly in the Philippine population.

scholarly journals Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1

2007 ◽  
Vol 8 (1) ◽  
Author(s):  
Roberto Sacco ◽  
Veruska Papaleo ◽  
Jorg Hager ◽  
Francis Rousseau ◽  
Rainald Moessner ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Autistic Disorder ◽  
Association Studies ◽  
Case Control ◽  
Family Based

scholarly journals Case–Parent Trio Studies in Cleft Lip and Palate

2020 ◽  
Vol 07 (03) ◽  
pp. 075-079
Author(s):  
Mahamad Irfanulla Khan ◽  
Prashanth CS
Keyword(s):  
Genetic Variants ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Association Studies ◽  
Geographical Location ◽  
Genetic Association Studies ◽  
Population Based ◽  
Genome Wide Association Studies ◽  
Family Based ◽  
Study Designs

AbstractCleft lip with or without cleft palate (CL/P) is one of the most common congenital malformations in humans involving various genetic and environmental risk factors. The prevalence of CL/P varies according to geographical location, ethnicity, race, gender, and socioeconomic status, affecting approximately 1 in 800 live births worldwide. Genetic studies aim to understand the mechanisms contributory to a phenotype by measuring the association between genetic variants and also between genetic variants and phenotype population. Genome-wide association studies are standard tools used to discover genetic loci related to a trait of interest. Genetic association studies are generally divided into two main design types: population-based studies and family-based studies. The epidemiological population-based studies comprise unrelated individuals that directly compare the frequency of genetic variants between (usually independent) cases and controls. The alternative to population-based studies (case–control designs) includes various family-based study designs that comprise related individuals. An example of such a study is a case–parent trio design study, which is commonly employed in genetics to identify the variants underlying complex human disease where transmission of alleles from parents to offspring is studied. This article describes the fundamentals of case–parent trio study, trio design and its significances, statistical methods, and limitations of the trio studies.

scholarly journals Maternal Vitamin B12 Status and Risk of Cleft Lip and Cleft Palate Birth Defects in Tamil Nadu State, India

2021 ◽  
Vol 58 (5) ◽  
pp. 567-576
Author(s):  
Ronald G. Munger ◽  
Rajarajeswari Kuppuswamy ◽  
Jyotsna Murthy ◽  
Kalpana Balakrishnan ◽  
Gurusamy Thangavel ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Tamil Nadu ◽  
Cleft Lip ◽  
Maternal Nutrition ◽  
Case Control ◽  
Vitamin B ◽  
Plasma Vitamin ◽  
Maternal Vitamin ◽  
Increased Risk ◽  
Tamil Nadu State

Background and Objective: The causal role of maternal nutrition in orofacial clefts is uncertain. We tested hypotheses that low maternal vitamin B12 and low folate status are each associated with an increased risk of isolated cleft lip with or without cleft palate (CL±P) in a case–control study in Tamil Nadu state, India. Methods: Case-mothers of CL±P children (n = 47) and control-mothers of unaffected children (n = 50) were recruited an average of 1.4 years after birth of the index child and plasma vitamin B12, methylmalonic acid (MMA), total homocysteine (tHcy), and folate were measured at that time. Logistic regression analyses estimated associations between nutrient biomarkers and case–control status. Results: Odds ratios (ORs) contrasting biomarker levels showed associations between case-mothers and low versus high plasma vitamin B12 (OR = 2.48, 95% CI, 1.02-6.01) and high versus low plasma MMA, an indicator of poor B12 status (OR = 3.65 95% CI, 1.21-11.05). Case–control status was not consistently associated with folate or tHcy levels. Low vitamin B12 status, when defined by a combination of both plasma vitamin B12 and MMA levels, had an even stronger association with case-mothers (OR = 6.54, 95% CI, 1.33-32.09). Conclusions: Mothers of CL±P children in southern India were 6.5 times more likely to have poor vitamin B12 status, defined by multiple biomarkers, compared to control-mothers. Further studies in populations with diverse nutritional backgrounds are required to determine whether poor maternal vitamin B12 or folate levels or their interactions are causally related to CL±P.

scholarly journals Family based and case–control designs reveal an association of TFAP2A in nonsyndromic cleft lip only among Vietnamese population

2021 ◽  
Author(s):  
Duc Minh Nguyen ◽  
Satoshi Suzuki ◽  
Hideto Imura ◽  
Teruyuki Niimi ◽  
Hiroo Furukawa ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Case Control ◽  
Vietnamese Population ◽  
Family Based ◽  
Control Designs

The SNP rs560426 Within ABCA4-ARHGAP29 Locus and the Risk of Nonsyndromic Oral Clefts

2020 ◽  
Vol 57 (6) ◽  
pp. 671-677 ◽  
Author(s):  
Yah-Huei Wu-Chou ◽  
Kuo-Ting Philip Chen ◽  
Yi-Chieh Lu ◽  
Yin-Ting Lin ◽  
Hsien-Fang Chang ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Strong Association ◽  
Nucleotide Polymorphisms ◽  
Test Analysis ◽  
Oral Clefts ◽  
The Family ◽  
Abca4 Gene ◽  
Family Based ◽  
New Evidence

Objective: Nonsyndromic oral clefts are common birth defect with complex etiology. In the present study, we attempt to further validate the possible role for ABCA4 and ARHGAP29 in the susceptibility to nonsyndromic oral clefts. Design: We performed allelic transmission disequilibrium test analysis, on 10 eligible single nucleotide polymorphisms (SNPs) and SNP haplotypes using the Family-Based Association Test. Participants: The study sample consisted of 334 case–parent trios of nonsyndromic oral clefts from Taiwanese population, separated into nonsyndromic cleft lip with or without cleft palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO) groups. Results: We found only the SNP rs560426 within the ABCA4 gene showed strong association with NSCPO ( P = .03498; Permuted P = .05382). No association between other 9 selected SNPs in ABCA4-ARHGAP29 region and the risk of nonsyndromic oral clefts was found. For the haplotype analyses, we found only haplotype T-C (rs570926 and rs3789431) in ABCA4 block 2 showed significant association with nonsyndromic NSCL/P in these Taiwanese trios. Conclusions: We used a family-based analysis in 334 Taiwanese case–parent trios to validate the possible role for ABCA4 and ARHGAP29 in the susceptibility to nonsyndromic oral clefts. This study provides a new evidence for an association between the intron variant rs560426 within ABCA4 and nonsyndromic cleft palate which may contribute their regulatory role in craniofacial development.

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