The association between rs4684677 T/A polymorphism in preproghrelin gene and predisposition to autoimmune thyroid diseases in children

Moniuszko, Anna; Wawrusiewicz‐Kurylonek, Natalia; Bossowska, Anna; Gościk, Joanna; Łuczyński, Włodzimierz; Głowińska-Olszewska, Barbara; Krętowski, Adam; Bossowski, Artur

doi:10.3109/08916934.2015.1033687

Cited by 5 publications

(7 citation statements)

References 19 publications

(20 reference statements)

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“…Most recently, based on the results of an analysis performed in a large cohort of GD patients, Yuan et al reported significant genetic heterogeneity between subjects with age of GD onset ≤20 and >20 years, suggesting it is reasonable to reduce the cut‐off value for the definition of early‐onset GD. However, data on the genetic risk factors in POGD are limited . In our multicentre study, we collected a large group of POGD patients and investigated similarities and differences in the genetic background between POGD and AOGD for the established and suggested GD/AITD risk loci .…”

Section: Introductionmentioning

confidence: 99%

“…However, data on the genetic risk factors in POGD are limited. [18][19][20][21][22][23][24][25][26][27] In our multicentre study, we collected a large group of POGD patients and investigated similarities and differences in the genetic background between POGD and AOGD for the established and suggested GD/ AITD risk loci. Subsequently, we looked for genetic variants associated with age of GD onset in the entire cohort of patients.…”

Section: Introductionmentioning

confidence: 99%

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Paediatric‐onset and adult‐onset Graves' disease share multiple genetic risk factors

Kuś

Radziszewski

Glina

et al. 2018

Clinical Endocrinology

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Background Graves' disease (GD) is an autoimmune thyroid disease (AITD) with a peak incidence between 30 and 50 years of age. Although children and adolescents may also develop the disease, the genetic background of paediatric‐onset GD (POGD) remains largely unknown. Here, we looked for similarities and differences in the genetic risk factors for POGD and adult‐onset GD (AOGD) as well as for variants associated with age of GD onset. Materials and methods A total of 1267 GD patients and 1054 healthy controls were included in the study. Allele frequencies of 40 established and suggested GD/AITD genetic risk variants (39 SNPs and HLA‐DRB1*03) were compared between POGD (N = 179), AOGD (N = 1088) and healthy controls. Subsequently, multiple linear regression was used to explore the relationship between age of GD onset and genotype for each locus. Results We identified six POGD risk loci, all of them were also strongly associated with AOGD. Although for some of the analysed variants, including HCP5 (rs3094228), PRICKLE1 (rs4768412) and SCGB3A2 (rs1368408), allele frequencies differed nominally between POGD and AOGD patients, these differences were not significant after applying multiple testing correction (Pcor = 0.05/40 = 1.25 × 10−3). Regression analysis showed that patients with higher number of HCP5 risk alleles tend to have a significantly earlier onset of GD (P = 6.9 × 10−5). Conclusions The results of our study revealed that POGD and AOGD share multiple common genetic risk variants. Moreover, we demonstrated for the first time that HCP5 polymorphism is associated with an earlier age of GD onset in a dose‐dependent manner.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Paediatric‐onset and adult‐onset Graves' disease share multiple genetic risk factors

Kuś

Radziszewski

Glina

et al. 2018

Clinical Endocrinology

Self Cite

View full text Add to dashboard Cite

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“…Furthermore, it was suggested that rs4684677 probably contributes to autoimmune thyroid disease predisposition in a case-control study that investigated polish children (p=0.002) [14], as well as increased women's waist circumference in a Spanish sample population [15]. No significant association was observed in a Brazilian population sample in a study conducted for gestational diabetes [16].…”

Section: The Polymorphism Rs4684677mentioning

confidence: 99%

“…First, the G protein-coupled receptor-39 (GPR39) was indicated as an obestatin cognate ligand receptor, but this is not supported by several authors, indicating the need for new and more accurate research [4][5][6]. However, that peptide clearly shows an important role in metabolism involved with anti-inflammatory and cardioprotective effects [7][8][9][10][11][12][13][14][15][16][17][18][19]. Furthermore, polymorphisms found in GHRL gene are also being associated with different clinical conditions [20][21][22][23].…”

Section: Introductionmentioning

confidence: 99%

Molecular studies on preproghrelin gene: alternative splicing, obestatin effects, coding region and variants

Koczicki¹,

Martins²,

Wischral³

et al. 2019

Health Edu Care

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“…Rs4684667 A/T also showed significant association with cognitive impairment in elder Spanish community dwelling individuals [20]. A variety of other studies provided supporting evidence for the role of rs4684677 T/A polymorphism in influencing metabolic syndrome, panic disorder, cancer, and autoimmune thyroid disease risks [21–24]. …”

Section: Introductionmentioning

confidence: 99%

Association of plasma ghrelin levels and ghrelin rs4684677 polymorphism with mild cognitive impairment in type 2 diabetic patients

et al. 2017

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Background and aimsPeople with insulin resistance and type 2 diabetes mellitus (T2DM) are at increased risks of cognitive impairment. We aimed to investigate the association of plasma ghrelin levels and ghrelin rs4684677 polymorphism with mild cognitive impairment (MCI) in T2DM patients.ResultsIn addition to elevated glycosylated hemoglobin (HbA1c), fasting blood glucose (FBG) and homeostasis model assessment of insulin resistance (HOMA-IR), T2DM patients with MCI had decreased plasma ghrelin levels compared with their healthy-cognition subjects (all p < 0.05). Further logistic regression analysis showed that ghrelin level was one of independent factors for MCI in T2DM patients (p < 0.05). Moreover, partial correlation analysis demonstrated that ghrelin levels were positively associated with the scores of Montreal Cognitive Assessment (r = 0.196, p = 0.041) and Auditory Verbal Learning Test-delayed recall (r = 0.197, p = 0.040) after adjustment for HbA1c, FBG and HOMA-IR, wherein the latter represented episodic memory functions. No significant differences were found for the distributions of genotype and allele of ghrelin rs4684677 polymorphism between MCI and control group.Materials and methodsA total of 218 T2DM patients, with 112 patients who satisfied the MCI diagnostic criteria and 106 who exhibited healthy cognition, were enrolled in this study. Demographic characteristics, clinical variables and cognitive performances were extensively assessed. Plasma ghrelin levels and ghrelin rs4684677 polymorphism were also determined.ConclusionsOur results suggest that decreased ghrelin levels are associated with MCI, especially with episodic memory dysfunction in T2DM populations.

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The association between rs4684677 T/A polymorphism in preproghrelin gene and predisposition to autoimmune thyroid diseases in children

Abstract: Rs4684677 T/A polymorphisms in preproghrelin gene could contribute to development of AITDs in children and T allele is the main risk factor.

Cited by 5 publications

References 19 publications

Paediatric‐onset and adult‐onset Graves' disease share multiple genetic risk factors

Paediatric‐onset and adult‐onset Graves' disease share multiple genetic risk factors

Molecular studies on preproghrelin gene: alternative splicing, obestatin effects, coding region and variants

Association of plasma ghrelin levels and ghrelin rs4684677 polymorphism with mild cognitive impairment in type 2 diabetic patients

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