Turner Syndrome and Celiac Disease: A Case-Control Study

Mårild, Karl; Størdal, Ketil; Hagman, Anders; Ludvigsson, Jonas F.

doi:10.1542/peds.2015-2232

Cited by 45 publications

(34 citation statements)

References 47 publications

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“…Celiac disease is the second most common autoimmune disease described in women with Turner syndrome, present in approximately 8% (Gravholt, Andersen, et al, , table 2). There is a twofold increased risk of celiac disease in girls with Turner syndrome younger than 5 years of age (Marild, Stordal, Hagman, & Ludvigsson, ) which increases to a more than fivefold increase after the age of 10 years. The relative risk in adults, when compared to the general population, is increased by as much as 42‐fold (Bakalov et al, ).…”

Section: Autoimmune Disordersmentioning

confidence: 99%

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

Lin

Prakash

Andersen

et al. 2019

American J of Med Genetics Pt A

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Turner syndrome is recognized now as a syndrome familiar not only to pediatricians and pediatric specialists, medical geneticists, adult endocrinologists, and cardiologists, but also increasingly to primary care providers, internal medicine specialists, obstetricians, and reproductive medicine specialists. In addition, the care of women with Turner syndrome may involve social services, and various educational and neuropsychologic therapies. This article focuses on the recognition and management of Turner syndrome

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Section: Autoimmune Disordersmentioning

confidence: 99%

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

Lin

Prakash

Andersen

et al. 2019

American J of Med Genetics Pt A

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“…The copyright holder for this preprint this version posted April 14, 2020. . https://doi.org/10.1101/2020.04.09.20060012 doi: medRxiv preprint dysfunction is a common feature of Turner syndrome along with autoimmune celiac disease 33,34 , while aortic valve disease may also accompany component autoimmune phenotypes of Multiple Sclerosis 35,36 .…”

Section: Discussionmentioning

confidence: 99%

Cardiac imaging of aortic valve area from 26,142 UK Biobank participants reveal novel genetic associations and shared genetic comorbidity with multiple disease phenotypes

Córdova‐Palomera

Tcheandjieu

Fries

et al. 2020

Preprint

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The aortic valve is an important determinant of cardiovascular physiology and anatomic location of common human diseases. From a sample of 26,142 European-ancestry participants, we estimated functional aortic valve area by planimetry from prospectively obtained cardiac MRI sequences of the aortic valve. A genome-wide association study of aortic valve area in these UK Biobank participants showed two significant associations indexed by rs71190365 (chr13:50764607, DLEU1, p=1.8e-9) and rs35991305 (chr12:94191968, CRADD, p=3.4e-8). From the GWAS findings we constructed a polygenic risk score for aortic valve area, which in a separate cohort of 311,728 individuals without imaging demonstrated that smaller aortic valve area is predictive of increased risk for aortic valve disease (Odds Ratio 0.88, p=2.3e-6). After excluding subjects with a medical diagnosis of aortic valve stenosis (remaining n=310,546 individuals), phenome-wide association of >10,000 traits showed multiple links between the polygenic score for aortic valve disease and key health-related comorbidities involving the cardiovascular system and autoimmune disease. Genetic correlation analysis supports a shared genetic etiology with between aortic valve size and birthweight along with other cardiovascular conditions. These results illustrate the use of automated phenotyping of cardiac imaging data from the general population to investigate the genetic etiology of aortic valve disease, perform clinical prediction, and uncover new clinical and genetic correlates of cardiac anatomy.

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“…19 Several studies have demonstrated that CD is more commonly observed in patients with TS than those in the general population. [20][21][22][23][24] Therefore, it has been recommended that patients with TS be monitored for CD. 11 There is a lack of systematic reviews on the strength of association between specific genetic disorders and CD.…”

Section: Introductionmentioning

confidence: 99%

Strength of the association between Turner syndrome and coeliac disease: protocol for a systematic review and meta-analysis

et al. 2020

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IntroductionCoeliac disease (CD) is a genetic autoimmune disorder characterised by a permanent sensitivity to the gluten contained in some grains. Certain patient groups are considered high risk for the development of CD, including, but not limited to, those with chromosomal disorders such as Turner syndrome (TS). Here, we present a protocol for a systematic review and meta-analysis that aims to comprehensively summarise the literature, and quantitatively estimate the weighted strength of the association between TS and CD.Methods and analysisOur protocol follows the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols 2015 guidelines. We will search PubMed, Scopus, Web of Science and Embase databases for relevant articles. Variant and broad search terms will be selected for identifying epidemiological studies reporting on the crude and/or adjusted association between TS and CD. Retrieved citations will be screened, and data from the eligible research reports against specific eligibility criteria will be extracted. We will then assess the risk of bias associated with the eligible studies using the Newcastle-Ottawa Scale. The overall weighted strength of the pooled association will be quantified using the random-effects model.Ethics and disseminationThis review will use data from published literature; hence, ethical approval will not be needed. The resulting review will be the first to produce a comprehensive synthesis of the strength of the association between TS and CD. The results will be disseminated through a peer-reviewed journal as well as in local and international conferences and symposiums. Results dissemination would help healthcare providers and policy-makers to make informed decisions regarding the diagnosis and management of CD in high-risk individuals.PROSPERO registration numberCRD42019131881, dated 3 September 2019.

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Turner Syndrome and Celiac Disease: A Case-Control Study

Cited by 45 publications

References 47 publications

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

Cardiac imaging of aortic valve area from 26,142 UK Biobank participants reveal novel genetic associations and shared genetic comorbidity with multiple disease phenotypes

Strength of the association between Turner syndrome and coeliac disease: protocol for a systematic review and meta-analysis

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