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

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 Family-Based versus Unrelated Case-Control Designs for Genetic Associations

PLoS Genetics ◽  
2006 ◽  
Vol 2 (8) ◽  
pp. e123 ◽  
Author(s):  
Evangelos Evangelou ◽  
Thomas A Trikalinos ◽  
Georgia Salanti ◽  
John P. A Ioannidis
Keyword(s):  
Case Control ◽  
Genetic Associations ◽  
Family Based ◽  
Control Designs

scholarly journals Family-based vs. unrelated case-control designs for genetic associations

PLoS Genetics ◽  
2005 ◽  
Vol preprint (2006) ◽  
pp. e123
Author(s):  
Evangelos Evangelou ◽  
Thomas Trikalinos ◽  
Georgia Salanti ◽  
John P. A. Ioannidis
Keyword(s):  
Case Control ◽  
Genetic Associations ◽  
Family Based ◽  
Control Designs

scholarly journals The Relative Power of Family-Based and Case-Control Designs for Linkage Disequilibrium Studies of Complex Human Diseases. II. Individual Genotyping

1999 ◽  
Vol 9 (3) ◽  
pp. 234-241 ◽  
Author(s):  
Jun Teng ◽  
Neil Risch
Keyword(s):  
Relative Efficiency ◽  
Case Control ◽  
Test Statistics ◽  
Dna Pooling ◽  
Test Statistic ◽  
Nonrandom Mating ◽  
Mating Patterns ◽  
Individual Genotyping ◽  
Family Based ◽  
Control Designs

In this paper we consider test statistics based on individual genotyping. For sibships without parents, but with unaffected as well as affected sibs, we introduce a new test statistic (referred to asTDS), which contrasts the allele frequency in affected sibs versus that estimated for the parents from the entire sibship. For sibships without parents, this test is analogous to the TDT and is completely robust to nonrandom mating patterns. The efficiency of the TDS test is comparable to that of the THS test (which compares affected vs. unaffected sibs and was based on DNA pooling), for sibships with one affected child. However, as the number of affected sibs in the sibship grows, the relative efficiency of the TDS test versus theTHS test also increases. For example, for sibships with three affected, one-third fewer families are required; for families with four affected, nearly half as many are required. Thus, when sibships contain multiple affected individuals, theTDS test provides both an increase in power and robustness to nonrandom mating.

A reappraisal of the association between Dysbindin (DTNBP1) and schizophrenia in a large combined case-control and family-based sample of German ancestry

2010 ◽  
Vol 72 (08/09) ◽  
Author(s):  
J Strohmaier ◽  
J Frank ◽  
J Wendland ◽  
J Schumacher ◽  
J Treutlein ◽  
...  
Keyword(s):  
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.

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