No major genes in autoimmune thyroid diseases: complex segregation and epidemiological studies in a large Tunisian pedigree

Bougacha-Elleuch, Noura; Arab, Saïda Ben; Rebai, Ahmed; Mnif, Mouna; Maalej, Aref; Charfi, Nadia; Lassouad, Mohamed Ben; Jouida, J.; Abid, M.; Ayadi, Hammadi

doi:10.1007/s12041-011-0064-z

Cited by 4 publications

(6 citation statements)

References 25 publications

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“…In order to decide between existence and absence of such a component, we have recently performed a complex segregation analysis of AITDs in the region harbouring Akr family. Our results gave evidence for a polygenic character of these diseases suggesting that genetic susceptibility to AITDs results from numerous loci, each contributing with small effects rather than a major one (Bougacha-Elleuch et al, 2011).…”

Section: Complex Segregation Analysismentioning

confidence: 66%

“…In a district from the central east of Tunisia, where "Akr" family members live, the prevalence and incidence of AITDs were 4.36% and 7.2 per 1000 inhabitants per year respectively. Particularly, the prevalence of autoimmune hypothyroidism was 2.13% (Bougacha-Elleuch et al, 2011).…”

Section: Epidemiologymentioning

confidence: 99%

“…This family is actually composed of about 400 members with high level of consanguinity (60.5% vs 38.3% in controls from the same region) (Bougacha-Elleuch et al, 2011). Among these patients, 63 have benefited from a regular clinical follow up during these two last decades.…”

Section: Clinical Datamentioning

confidence: 99%

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Hashimoto's Disease

Bougacha-Elleuch¹,

Mnif-Feki²,

Charfi-Sellami³

et al. 2012

A New Look at Hypothyroidism

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Section: Complex Segregation Analysismentioning

confidence: 66%

Section: Epidemiologymentioning

confidence: 99%

See 1 more Smart Citation

Hashimoto's Disease

Bougacha-Elleuch¹,

Mnif-Feki²,

Charfi-Sellami³

et al. 2012

A New Look at Hypothyroidism

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“…The prevalence of GD and AH was 23.31‰ and 21.33‰ respectively. The estimated incidence of AITD was 7.21 per 1000 inhabitants in the studied region ( Bougacha-Elleuch et al, 2011 ). Therefore, with such high frequencies, AITD constitute a public health problem in this region particularly with its low life level.…”

Section: Discussionmentioning

confidence: 99%

“…In a recent study, we have given evidence for a polygenic model corresponding to AITD where the different genes contribute each only a small risk of disease ( Bougacha-Elleuch et al, 2011 ). Thus, if we consider the CTLA4 gene which is among the most replicated gene in AITD susceptibility, the corresponding relative risk is of just 1.3–1.7.…”

Section: Introductionmentioning

confidence: 99%

A 20year history of clinical and genetic study of thyroid autoimmunity in a Tunisian multigenerational family: Evidence for gene interaction

et al. 2014

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Autoimmune thyroid diseases (AITD), which include Hashimoto thyroiditis (HT), Graves' disease (GD) and primary idiopathic myxoedema (PIM), are recognized by their clinical and genetic heterogeneity. In this study, we have carried on a global approach gathering 20 year genetic and clinical data on a Tunisian multigenerational family (Akr). Our purpose was search for a combined genotype involved in AITD susceptibility using 33 gene polymorphisms. The Akr pedigree is composed of more than 400 members distributed on 10 generations. Clinical follow-up was performed by appreciation of the thyroid gland and measurement of both thyroid hormone and auto antibody levels. We used FBAT software to test for association between gene polymorphisms and AITDs. Clinical follow-up has showed that the number of AITD patients has increased from 25 to 78 subjects subdivided on 51 cases of GD, 22 PIM and 5 HT. Concerning genetic analysis, our study has revealed new gene association when compared with our previous analysis (considering single genes). Thus, PTPN22, TG and VDR gene polymorphisms have became associated with p-values ranging from 4.6 10− 2 to 4 10− 3 when considered with other genes on the same chromosome; giving evidence for gene interaction. The most significant association was found with the MHC region (p = 7.15 10− 4). Moreover, and among gene polymorphisms explored, our analysis has identified some of them as AITD biomarkers. Indeed, PDS gene polymorphisms were associated with either exophthalmia or goiter (p-values from 10− 2 to 10− 3). In conclusion, our study gives evidence for gene interaction in AITD development confirming genetic complexity of these diseases.

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Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect

et al. 2015

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This is the first description of a TD causing mutation in Tunisia and thus may help to develop a genetic screening protocol for congenital hypothyroidism in the studied region. Although structural modeling suggested a pathogenic effect of this mutation, functional studies are needed. Additional causing and/or modifier genes, together with late diagnosis could explain the clinical variability observed in our patients.

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No major genes in autoimmune thyroid diseases: complex segregation and epidemiological studies in a large Tunisian pedigree

Abstract: Bougacha-Elleuch N., Arab S. B., Rebai A., Mnif M., Maalej A., Charfi N., Lassouad M. B., Jovida J., Abid M. and Ayadi H. 2011 No major genes in autoimmune thyroid diseases: complex segregation and epidemiological studies in a large Tunisian pedigree. J. Genet. 90, 333-337]

Cited by 4 publications

References 25 publications

Hashimoto's Disease

Hashimoto's Disease

A 20year history of clinical and genetic study of thyroid autoimmunity in a Tunisian multigenerational family: Evidence for gene interaction

Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect

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