Copy Number Variation in Common Disease

Brand, Stephan; Gough, Stephen

doi:10.1089/thy.2010.2101.ed

Cited by 5 publications

(4 citation statements)

References 28 publications

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“…As there have been no studies demonstrating improved outcome in treating IH during pregnancy, I do not begin levothyroxine in this group of women. This is consistent with the American Thyroid Association Guidelines, which do not recommend levothyroxine for IH of pregnancy ( 14 ). However, both the Endocrine Society Guidelines and the European Thyroid Association Guidelines state that levothyroxine intervention can be considered, especially for IH diagnosed in the first trimester ( 15 , 25 ).…”

Section: Isolated Hypothyroxinemia Of Pregnancysupporting

confidence: 88%

“…Nevertheless, most professional societies do not recommend universal thyroid screening during pregnancy due to the limited and mixed results of studies prospectively evaluating the impact of levothyroxine treatment of subclinical hypothyroidism during pregnancy on maternal and fetal outcomes ( 12 , 13 ). It is therefore not surprising that in 2011, the American Thyroid Association guidelines stated that, “There is insufficient evidence to recommend for or against universal TSH screening at the first trimester visit” ( 14 ), whereas the 2012 Endocrine Society Guidelines stated that, “The committee could not reach agreement with regard to screening recommendations for all newly pregnant women” ( 15 ). Similarly, the American College of Obstetricians and Gynecologists does not recommend universal screening ( 16 ).…”

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confidence: 99%

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Postpartum Management of Women Begun on Levothyroxine during Pregnancy

Stagnaro-Green

2015

Front. Endocrinol.

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During pregnancy, the thyroid gland must produce 50% more thyroid hormone to maintain the euthyroid state. Women with decreased thyroid reserve preconception, most typically due to Hashimoto’s thyroiditis, may develop hypothyroidism during pregnancy. Data over the last 20 years have reported a strong association between subclinical hypothyroidism and adverse maternal/fetal events. As a result of this association, an increasing number of women are being screened for thyroid disease either preconception or at the first prenatal visit. Consequently, an ever increasing number of women are being initiated on levothyroxine for the first time during pregnancy. At present, there are very limited guidelines related to the management of the thyroid disease in these women postpartum. Based on an understanding of the physiology of the thyroid gland during pregnancy and postpartum, and the personal clinical experience of the author, recommendations for the postpartum management of women who were started on levothyroxine during pregnancy are presented.

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Section: Isolated Hypothyroxinemia Of Pregnancysupporting

confidence: 88%

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confidence: 99%

Postpartum Management of Women Begun on Levothyroxine during Pregnancy

Stagnaro-Green

2015

Front. Endocrinol.

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“…Hemodynamic changes in thyroid hormone act on the circulatory system, leading to decreased peripheral resistance, increased heart rate, myocardial contractility and systolic blood pressure, thereby causing increased pulse pressure and greatly increased cardiac output [ 9 , 10 ]. Volzke et al .…”

Section: Discussionmentioning

confidence: 99%

Using ultrasound radio frequency technology to assess regression of the structure and function of the carotid artery by radioiodine therapy in hyperthyroidism patients

Chen¹

2015

aoms

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IntroductionThe aim of the study was to investigate the structure and function of the carotid artery in patients with hyperthyroidism by ultrasound radio frequency data technology (RF data) and the effect of 131I on them.Material and methodsSeventy patients with primary hyperthyroidism and 74 healthy volunteers were enrolled in this study. Structural and functional parameters of the common carotid artery were measured in every patient before and after 131I treatment through the RF data, such as intima media thickness (IMT), functional compliance coefficient (CC), stiffness index (β), and pulse wave velocity (PWV). We also analyzed the correlation between these parameters and patients’ age, body mass index, hemodynamic parameters (blood pressure, heart rate), thyroid hormone levels and other risk factors.ResultsThere was a significant difference in IMT between hyperthyroid patients and the control group at baseline (483.6 vs. 443.3 µm, p < 0.01); after treatment, the IMT decreased significantly (428.7 vs. 483.6 µm, p < 0.001). Furthermore, the IMT was correlated with patients’ age and systolic blood pressure (r = 0.525, p < 0.01 and r = 0.289, p < 0.05, respectively). The β and PWV were also higher than the control group (7.26 vs.5.87, 6.27 vs. 5.57 m/s, respectively; all p < 0.001); CC was lower than the control group (0.98 vs. 1.19 mm2/KPa, p < 0.01); after treatment, PWV and β were lower than baseline (5.66 vs. 6.27, 5.81 vs. 7.26 m/s, respectively; all p < 0.01), and CC was higher than baseline. In addition, they were significantly correlated with age (r = 0.525, p < 0.01 and r = 0.289, p < 0.05, respectively). However, these parameters were not correlated with the level of thyroid hormones.ConclusionsSix-month 131I treatment for patients with hyperthyroidism reverses the structural and functional damage in the carotid artery, which is sensitively evaluated by the RF data technique.

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“…This suggests CNVs are unlikely to have utility in future screens for susceptibility loci in complex genetic diseases. However, fine-mapping studies require interrogation of all polymorphisms, including CNVs to identify an aetiological variant, and therefore, interrogation of CNVs in susceptibility regions is important [107]. The first CNV analysis in GD, recently investigated CNVs in the AITD risk regions, CTLA-4 , CD40 and PTPN22 in 191 GD cases and 192 controls however no association of CNVs within these regions were identified [108].…”

Section: Copy Number Variations and Future Direction In Genetic Studiesmentioning

confidence: 99%

Immunogenetic Mechanisms Leading to Thyroid Autoimmunity: Recent Advances in Identifying Susceptibility Genes and Regions

Brand

Gough²

2011

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The autoimmune thyroid diseases (AITD) include Graves’ disease (GD) and Hashimoto’s thyroiditis (HT), which are characterised by a breakdown in immune tolerance to thyroid antigens. Unravelling the genetic architecture of AITD is vital to better understanding of AITD pathogenesis, required to advance therapeutic options in both disease management and prevention. The early whole-genome linkage and candidate gene association studies provided the first evidence that the HLA region and CTLA-4 represented AITD risk loci. Recent improvements in; high throughput genotyping technologies, collection of larger disease cohorts and cataloguing of genome-scale variation have facilitated genome-wide association studies and more thorough screening of candidate gene regions. This has allowed identification of many novel AITD risk genes and more detailed association mapping. The growing number of confirmed AITD susceptibility loci, implicates a number of putative disease mechanisms most of which are tightly linked with aspects of immune system function. The unprecedented advances in genetic study will allow future studies to identify further novel disease risk genes and to identify aetiological variants within specific gene regions, which will undoubtedly lead to a better understanding of AITD patho-physiology.

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Copy Number Variation in Common Disease

Cited by 5 publications

References 28 publications

Postpartum Management of Women Begun on Levothyroxine during Pregnancy

Postpartum Management of Women Begun on Levothyroxine during Pregnancy

Using ultrasound radio frequency technology to assess regression of the structure and function of the carotid artery by radioiodine therapy in hyperthyroidism patients

Immunogenetic Mechanisms Leading to Thyroid Autoimmunity: Recent Advances in Identifying Susceptibility Genes and Regions

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