No evidence for phenotypic variation between probands in case-control versus family-based association studies of schizophrenia

2002 ◽  
Vol 114 (5) ◽  
pp. 509-511 ◽  
Author(s):  
Anil K. Malhotra ◽  
John A. Bates ◽  
Judith Jaeger ◽  
Georgios Petrides ◽  
Delbert G. Robinson ◽  
...  
Keyword(s):  
Phenotypic Variation ◽  
Association Studies ◽  
Case Control ◽  
Control Versus ◽  
Family Based

Is there a phenotypic difference between probands in case-control versus family-based association studies?

2002 ◽  
Vol 118B (1) ◽  
pp. 25-26 ◽  
Author(s):  
Thomas G. Schulze ◽  
Sven Cichon ◽  
Markus M. Nöthen ◽  
Peter Propping ◽  
Wolfgang Maier ◽  
...  
Keyword(s):  
Association Studies ◽  
Case Control ◽  
Phenotypic Difference ◽  
Control Versus ◽  
Family Based

Association of HLA Class II Alleles and Haplotypes with Type 1 Diabetes in Tunisian Arabs

2018 ◽  
Vol 127 (10) ◽  
pp. 653-662
Author(s):  
Abdelhafidh Hajjej ◽  
Wassim Y. Almawi ◽  
Mouna Stayoussef ◽  
Lasmar Hattab ◽  
Slama Hmida
Keyword(s):  
Type 1 Diabetes ◽  
Association Studies ◽  
Class Ii ◽  
Correlation Study ◽  
Case Control ◽  
Linkage Study ◽  
Hla Class Ii ◽  
Racial Background ◽  
Family Based

AbstractThe molecular association of HLA class II with type 1 diabetes (T1DM) was investigated in Tunisian Arabs using 3 kinds of analyses. The first was a case-control association study, using Relative Predispositional Effects method, involved 137 T1DM cases and 258 control subjects. The second was family-based association-linkage study, using Transmission Disequilibrium Test, and covering 50 Tunisian families comprising 73 T1DM patients and 100 parents. The third was a wide correlation study between 4 DRB1 alleles (DRB1*03, *04, *11, *15) and T1DM in 52 countries, using Spearman’s Rho. Results from Case-control and family-based association studies showed that DRB1*03 and DRB1*04 alleles predispose to T1DM in Tunisian Arabs. Conversely, only DRB1*11 was protective for T1DM. DRB1*04-DQB1*03 haplotype was consistently associated positively with T1DM; DRB1*03/DRB1*04 genotype had the highest risk of T1DM development. Compared to DRB1*03, HLA-DRB1*04 was associated with higher T1DM incidence. Thus, the contribution of HLA class II to T1DM genetic susceptibility must be evaluated with regards to specific HLA alleles, genotypes, and haplotypes, and also ethnic and racial background.

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

(ii) Family-based linkage and case control association studies

2008 ◽  
Vol 22 (4) ◽  
pp. 245-250 ◽  
Author(s):  
Daniel W.H. Ho ◽  
Danny Chan ◽  
Kenneth M.C. Cheung ◽  
Pak Sham ◽  
You-Qiang Song
Keyword(s):  
Association Studies ◽  
Case Control ◽  
Family Based ◽  
Control Association

scholarly journals What Have We Learned From Family-Based Studies About Spondyloarthritis?

2021 ◽  
Vol 12 ◽  
Author(s):  
Félicie Costantino ◽  
Hendrick Mambu Mambueni ◽  
Roula Said-Nahal ◽  
Henri-Jean Garchon ◽  
Maxime Breban
Keyword(s):  
Genetic Susceptibility ◽  
Familial Aggregation ◽  
Association Studies ◽  
Case Control ◽  
Special Focus ◽  
Inflammatory Disorder ◽  
Genome Wide Association Studies ◽  
Chronic Inflammatory Disorder ◽  
Susceptibility Factors ◽  
Family Based

Spondyloarthritis (SpA) is a chronic inflammatory disorder with a high familial aggregation, emphasizing the existence of genetic susceptibility factors. In the last decades, family-based studies have contributed to better understand the genetic background of SpA, in particular by showing that the most likely model of transmission is oligogenic with multiplicative effects. Coexistence of different SpA subtypes within families also highlighted the complex interplay between all subtypes. Several whole-genome linkage analyses using sib-pairs or multiplex families were performed in the 1990s to try to identify genetic susceptibility factors besides HLA-B27. Unfortunately, no consistent results were obtained and family-based studies have been progressively set aside in favor of case-control designs. In particular, case-control genome-wide association studies allowed the identification of more than 40 susceptibility regions. However, all these loci explain only a small fraction of disease predisposition. Several hypotheses have been advanced to account for this unexplained heritability, including rare variants involvement, leading to a renewed interest in family-based designs, which are probably more powerful in the detection of such variants. In this review, our purpose is to summarize what has been learned to date regarding SpA genetics from family-based studies, with a special focus on recent identification of rare associated variants through next-generation sequencing studies.

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