Regarding “Identification of a genetic variant associated with abdominal aortic aneurysms on chromosome 3p12.3 by genome wide association”

Jones, Gregory T.; Rij, André M. van

doi:10.1016/j.jvs.2009.07.098

Cited by 14 publications

(6 citation statements)

References 4 publications

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“…European Caucasian control subjects (n = 505) without RA were recruited from the Otago and Auckland regions of New Zealand and were all > 17 years of age. A further 610 controls recruited from the Otago region had been genome-wide scanned using the Affymetrix Genome-Wide Human SNP Array 6.0 [24]. These elderly controls were > 60 years of age and in good general health.…”

Section: Methodsmentioning

confidence: 99%

Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: confirmation of association of rs6822844with rheumatoid arthritis at a genome-wide level of significance

et al. 2010

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IntroductionThe single nucleotide polymorphism (SNP) rs6822844 within the KIAA1109-TENR-IL2-IL21 gene cluster has been associated with rheumatoid arthritis (RA). Other variants within this cluster, including rs17388568 that is not in linkage disequilibrium (LD) with rs6822844, and rs907715 that is in moderate LD with rs6822844 and rs17388568, have been associated with a number of autoimmune phenotypes, including type 1 diabetes (T1D). Here we aimed to: one, confirm at a genome-wide level of significance association of rs6822844 with RA and, two, evaluate whether or not there were effects independent of rs6822844 on RA at the KIAA1109-TENR-IL2-IL21 locus.MethodsA total of 842 Australasian RA patients and 1,115 controls of European Caucasian ancestry were genotyped for rs6822844, rs17388568 and rs907715. Meta-analysis of these data with published and publicly-available data was conducted using STATA.ResultsNo statistically significant evidence for association was observed in the Australasian sample set for rs6822844 (odds ratio (OR) = 0.95 (0.80 to 1.12), P = 0.54), or rs17388568 (OR = 1.03 (0.90 to 1.19), P = 0.65) or rs907715 (OR = 0.98 (0.86 to 1.12), P = 0.69). When combined in a meta-analysis using data from a total of 9,772 cases and 10,909 controls there was a genome-wide level of significance supporting association of rs6822844 with RA (OR = 0.86 (0.82 to 0.91), P = 8.8 × 10-8, P = 2.1 × 10-8 including North American Rheumatoid Arthritis Consortium data). Meta-analysis of rs17388568, using a total of 6,585 cases and 7,528 controls, revealed no significant association with RA (OR = 1.03, (0.98 to 1.09); P = 0.22) and meta-analysis of rs907715 using a total of 2,689 cases and 4,045 controls revealed a trend towards association (OR = 0.93 (0.87 to 1.00), P = 0.07). However, this trend was not independent of the association at rs6822844.ConclusionsThe KIAA1109-TENR-IL2-IL21 gene cluster, that encodes an interleukin (IL-21) that plays an important role in Th17 cell biology, is the 20th locus for which there is a genome-wide (P ≤ 5 ×10-8) level of support for association with RA. As for most other autoimmune diseases, with the notable exception of T1D, rs6822844 is the dominant association in the locus. The KIAA1109-TENR-IL2-IL21 locus also confers susceptibility to other autoimmune phenotypes with a heterogeneous pattern of association.

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Section: Methodsmentioning

confidence: 99%

Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: confirmation of association of rs6822844with rheumatoid arthritis at a genome-wide level of significance

et al. 2010

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“…Elmore et al 42 reported an association between AAA presence and an SNP on chromosome 3p12.3 (close to the contactin-3 gene which encodes a cell-adhesion molecule), which was, however, not confirmed in a separate study 43. Gretarsdottir et al 44 analysed a large group of more than 1200 AAAs and 30 000 controls and also performed a follow-up validation analysis to identify a positive association of a region located within the DAB2IP gene.…”

Section: Genetic Studiesmentioning

confidence: 99%

The genetic basis for aortic aneurysmal disease

Saratzis

Bown

2014

Heart

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Aortic aneurysms are an important cause of cardiovascular death in elderly patients. At present, little is known of the pathobiology of aneurysmal disease and this limits the ability to develop non-surgical treatments to stabilise aneurysms. Both thoracic and abdominal aortic aneurysms (AAA) demonstrate a strong genetic component in their aetiology. Determination of the genetic variants associated with aneurysmal disease is one approach to increasing the understanding the pathways leading to aneurysmal degeneration of the aorta. In this review, we aim to summarise the current knowledge of the genetics underlying the two most common disease phenotypes, thoracic aortic aneurysm (TAA) and AAA. Genetically, AAA represent a multifactorial disease, with the likelihood that there are multiple variants of very low effect sizes contributing to the overall genetic disease risk. Non-syndromic TAA appears to be associated with a smaller number of risk loci with higher individual effect sizes at these loci. Candidate gene and genome-wide approaches have identified robust associations between AAA and variants in/nearby the SORT1, low-density lipoprotein receptor, DAB2IP, LRP1, ELN, CRP, TGFB and various matrix metallo-proteinase genes suggesting that aberrations of lipid metabolism and proteolytic pathways are the key contributors to disease. Some of these associations (eg, LRP1) are not associated with atherosclerosis, suggesting pathways unique to AAA. Genetic variants associated with non-syndromic TAA (ACTA2 and MYH11) are related to the TGFβ pathway, strongly implicated in syndromic TAA, thus suggesting a common pathway between syndromic and non-syndromic TAA.

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“…The CDKN2BAS1 gene had the strongest association with AAA diagnosis (p = 6.94 × 10-29 and p = 1.54 × 10-33 for rs4007642 and rs10757274 respectively) [25,32]. Five SNPs (rs1795061, rs3827066, rs7635818, rs2836411 and rs9316871) [25,30] were investigated in subsequent validation studies [35,36], of which only rs2836411 and rs9316871 were replicated in a combined cohort of 746 AAA cases and 8,846 controls [35]. One GWAS also investigated the association between different genotypes of rs10757278 and AAA growth rate (mm/year) [31], although no significant differences in growth were observed after adjusting for age, sex, smoking status, baseline diameter and curvature in growth pattern.…”

Section: Genetic Loci Associated With Aaa Diagnosis or Growthmentioning

confidence: 99%

Systematic review of genome-wide association studies of abdominal aortic aneurysm

et al. 2021

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Regarding “Identification of a genetic variant associated with abdominal aortic aneurysms on chromosome 3p12.3 by genome wide association”

Cited by 14 publications

References 4 publications

Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: confirmation of association of rs6822844with rheumatoid arthritis at a genome-wide level of significance

Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: confirmation of association of rs6822844with rheumatoid arthritis at a genome-wide level of significance

The genetic basis for aortic aneurysmal disease

Systematic review of genome-wide association studies of abdominal aortic aneurysm

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