Genomewide Linkage Analysis of Celiac Disease in Finnish Families

Li, Jianjun; Juo, Suh‐Hang Hank; Holopainen, Päivi; Terwilliger, Joseph D.; Tong, Xiaomei; Grunn, Adina; Brito, Miguel; Green, Peter; Mustalahti, K.; Mäki, Markku; Gilliam, T. Conrad; Partanen, Jukka

doi:10.1086/338453

Cited by 89 publications

(60 citation statements)

References 43 publications

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“…5 Apart from the HLA region, only 5q31-33, with a maximum Zlr ¼ 4.39 (P ¼ 6 Â 10 À6 ), showed genome-wide significant linkage according to standard thresholds. 6 Linkage of CD to this region was originally identified by Greco et al 7 and was also found by Naluai et al 8 and Liu et al 9 Evidence for a risk factor in 2q33 (CELIAC3), likely corresponding to the CTLA4/ICOS genes, comes from association studies mainly in Northern Europe populations. 10 The CELIAC4 locus was mapped to 19p13.1 with a maximum logarithm of odds score ¼ 4.43 in a cohort of 101 affected sib pairs belonging to 82 Dutch families.…”

Section: Introductionmentioning

confidence: 78%

A family-based study does not confirm the association of MYO9B with celiac disease in the Italian population

et al. 2006

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Association between Myosin IXB (MYO9B) gene polymorphisms and celiac disease (CD) was recently detected by a casecontrol association study in the Dutch, but not confirmed in the British and Swedish/Norwegian populations. We tested the association between CD and the three most associated single nucleotide polymorphisms (SNPs) in the Dutch study by the transmission disequilibrium test in the Italian population. A total of 252 pediatric patients and 504 parents were genotyped. No transmission distortion was detected either for the single SNPs or for their haplotypic combinations. Control allele frequencies, calculated from untransmitted alleles, were significantly different from those of the Dutch control population. Conversely, allele frequencies were very similar in Italian, British, Swedish/Norwegian and Dutch patients. In conclusion, MYO9B is not involved in CD susceptibility in the Italian population. The difference with the Dutch result might be explained by an imperfect selection of the Dutch controls.

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Section: Introductionmentioning

confidence: 78%

A family-based study does not confirm the association of MYO9B with celiac disease in the Italian population

et al. 2006

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“…Chromosome region 1q31 has been implicated in linkage studies in lupus and multiple sclerosis (22)(23)(24). Multiple investigations have suggested linkage for chromosome region 1p36 in lupus (24)(25)(26), celiac disease (27), inflammatory bowel disease (28), and RA (29,30). This region was delineated further in adult RA using a case-control association design of single-nucleotide polymorphisms, resulting in a functional haplotype associated with RA that includes the gene PADI4 (31).…”

Section: Discussionmentioning

confidence: 99%

A genome‐wide scan for juvenile rheumatoid arthritis in affected sibpair families provides evidence of linkage

Thompson¹,

Moroldo²,

Guyer³

et al. 2004

Arthritis & Rheumatism

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Methods. Genotype data collected for HLA-DR and 386 microsatellite markers were subjected to multipoint nonparametric linkage analysis. Following analysis of the entire set of families, additional analyses were performed after a priori stratification by disease onset type, age at onset, disease course, and selected HLA-DRB1 alleles. Conclusion. These data support the hypothesis that multiple genes, including at least 1 in the HLA region, influence susceptibility to JRA. These findings for JRA are consistent with findings for other autoimmune diseases and support the notion that common genetic regions contribute to an autoimmune phenotype.Collectively, the varied conditions that constitute juvenile rheumatoid arthritis (JRA) represent the most common chronic rheumatic inflammatory conditions of childhood. Current estimates indicate that as many as 50,000 children in the US have been diagnosed with some form of JRA (1). The diagnosis of JRA is complicated by the heterogeneous nature of the clinical phenotypes and has broadly been defined by the American College of Rheumatology (ACR) (2) based on systemic involvement (fevers, rash, and involvement of other organ systems besides the musculoskeletal system) and mode of disease onset (pauciarticular [Յ4 joints] versus polyarticular [Ն5 joints]).Evidence suggests that JRA is a complex genetic disorder that is influenced by multiple genetic and environmental factors. The sibling risk ratio for a full sibling of a child with JRA is estimated to be 15 (3). These results are consistent with other autoimmune disorders, such as type 1 diabetes (4).

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“…The 12th tube of the reaction identifies the DQB1*02 allele in homozygous, which is an important information, because studies reveal that homozygous haplotype, increases patient´s susceptibility to develop CD (17,21,22) .…”

Section: Determination Of Hla Dq2 and Dq8mentioning

confidence: 99%

“…This is the case of haplotypes DRB1*07-DQA1*0201-DQB1*0202 (DR7-DQ2) and DRB1*11-DQA1*0505-DQB1*03 (DR11-DQ2) (21,25,35) . DQ8 heterodimers are codified by alleles DQA1*0301 and DQB1*0302 and due to bonding unbalance, are transmitted together with allele DRB1*04, forming the haplotype known as DR4-DQ8 (17,36,38) .…”

Section: Introductionmentioning

confidence: 99%

Prevalence of Genetic Susceptibility for Celiac Disease in Blood Donors in São Paulo, Brazil

Muniz

Sdepanian

Neto

2016

Arq. Gastroenterol.

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-Background -Celiac disease is a permanent intolerance induced by gluten, which is expressed by T-cell mediated enteropathy, and has a high prevalence in the general population. There is evidence of a strong genetic predisposition to celiac disease. Objective -To determine the prevalence of genetic markers HLA-DQ2 and HLA-DQ8 in blood donors from São Paulo and measure human recombinant tissue transglutaminase antibody IgA class in HLA-DQ2 and HLA-DQ8 positive donors.Methods -A total of 404 blood donors from São Paulo city and Jundiaí were included in the study and signed the informed consent form. Information regarding diarrhea, constipation and abdominal pain in the last 3 months was collected. Determination of HLADQ2 and HLADQ8 alleles was performed in all participants and human recombinant tissue transglutaminase antibody class IgA was measured only in blood donors who presentedDQ2 and/or DQ8. Results -HLADQ2 and/or HLADQ8 were positive in 49% (198/404) of subjects. Positive samples were associated with alleles DR3, DR4, DR7, DR11 and DR12. The most frequent genotype was DR4-DQ8, which was present in 13.6% of samples, followed by genotypes DR3-DQ2 and DR7-DQ2 with DQB1*02 in heterozygous, which were present in 10.4% and 8.7%, respectively. Eleven out of 198 positive donors (5%) were positive to human tissue transglutaminase test. Conclusion -We observed a high prevalence of genetic markers for celiac disease, HLA-DQ2 and HLA-DQ8, in blood donors from São Paulo, similar to prevalence described in Europe. These findings show that the prevalence of celiac disease should not be rare in our country, but underdiagnosed.

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Genomewide Linkage Analysis of Celiac Disease in Finnish Families

Cited by 89 publications

References 43 publications

A family-based study does not confirm the association of MYO9B with celiac disease in the Italian population

A family-based study does not confirm the association of MYO9B with celiac disease in the Italian population

A genome‐wide scan for juvenile rheumatoid arthritis in affected sibpair families provides evidence of linkage

Prevalence of Genetic Susceptibility for Celiac Disease in Blood Donors in São Paulo, Brazil

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