Complex segregation analysis of antibodies to thyroid peroxidase in old order amish families

Dl, Pauls; Zakarija, M.; Jm, McKenzie; Ja, Egeland

doi:10.1002/ajmg.1320470315

Cited by 34 publications

(12 citation statements)

References 19 publications

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“…36 The genetic susceptibility to the production of thyroid antibodies was further supported by several segregation analyses in families with thyroid antibodies that suggested a Mendelian dominant pattern of inheritance. [37][38][39] Indeed, our results have shown CTLA-4 to be linked with TAbs in a dominant inheritance pattern. In addition, it was recently found that recognition of particular TPO epitopes within the autoantibody immunodominant region may be transmitted within families.…”

Section: Discussionsupporting

confidence: 57%

Analysis of the CTLA-4, CD28, and inducible costimulator (ICOS) genes in autoimmune thyroid disease

et al. 2003

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The cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) gene on 2q33 is associated with autoimmune thyroid diseases (AITDs). Our earlier study in 56 families showed linkage of 2q33 to the presence of thyroid antibodies (TAbs). The goals of this study were to confirm the linkage of the 2q33 region to TAbs, to fine map this region, and study the ICOS gene. We performed a linkage study in an expanded data set of 99 multiplex AITD-TAb families (529 individuals). The highest two-point LOD score of 2.9 was obtained for marker D2S325 on 2q33. To fine map this locus, we genotyped 238 Caucasian AITD patients and 137 controls for five additional markers in the linked locus, which contained the CTLA-4, CD28, and ICOS genes. The A/G singlenucleotide polymorphism at position 49 of CTLA-4 was associated with AITD (P¼0.01, OR¼1.5), while markers inside CD28 and ICOS were not. Functional studies have shown that the G allele was associated with reduced inhibition of T-cell proliferation by CTLA-4. We concluded that: (1) the AITD gene in the 2q33 locus is the CTLA-4 gene and not the CD28 or ICOS genes; and (2) the G allele is associated with decreased function of CTLA-4.

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Section: Discussionsupporting

confidence: 57%

Analysis of the CTLA-4, CD28, and inducible costimulator (ICOS) genes in autoimmune thyroid disease

et al. 2003

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“…Until now, there is no segregation analysis performed on AITDs in order to determine transmission mode of inheritance of these diseases independently from disease parameters such as antibodies titres. Thus, two previous studies have reported evidence for genetic transmission of thyroid peroxidase auto antibodies in Old Order Amish families using the Pointer program (Pauls et al 1993;Jaume et al 1999).…”

Section: Discussionmentioning

confidence: 94%

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

Bougacha-Elleuch

Arab²,

Rebai

et al. 2011

J Genet

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“…A high prevalence of autoimmune thyroid disease, as evidenced by positive thyroid autoantibodies, has been previously observed in Amish families (34). However, autoimmune thyroid disease does not appear to be related to FDH in this family, because its prevalence was not different in subjects with or without FDH.…”

Section: -mentioning

confidence: 66%

Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred.

Weiss

Sunthornthepvarakul

Angkeow

et al. 1995

The Journal of Clinical Endocrinology & Metabolism

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Familial dysalbuminemic hyperthyroxinemia (FDH) is the most common cause of inherited euthyroid hyperthyroxinemia in Caucasians. Transmitted as an autosomal dominant trait, it is always associated with high serum total T4 (TT4) and more rarely with elevated total T3 (TT3) and/or rT3 (TrT3) concentrations. Free T4, by dialysis, and TSH levels are normal, suggesting the presence of a T4-binding protein abnormality. The abnormal serum T4 carrier shares some physical and immunological properties with albumin, suggesting that it may be albumin itself. Here we show linkage between FDH and the albumin gene in a large Amish family of Swiss descent, using as markers a SacI polymorphism in the coding sequence of the albumin gene and the group-specific component (Gc) gene, located less than 1 centimorgan from the albumin gene. Blood samples were obtained from 160 members of this kindred, and 22 had FDH identified by the pattern of T4 binding to serum proteins separated by isoelectric focusing. Serum TT4 values were above the normal range in all subjects expressing the FDH phenotype, and TrT3 levels were above the normal range in only one half. TT4 concentrations correlated positively with TrT3 and TT3. All TT3 values were, however, within the normal range. Free T4 and TSH levels were normal, confirming the euthyroid state in these subjects. FDH was associated with the albumin SacI(+)/Gc 1S haplotype, yielding a LOD (logarithm of the odds ratio) score of 5.53, with a recombination frequency of 0. These data provide strong support that a variant albumin is the cause of FDH in this kindred.

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Complex segregation analysis of antibodies to thyroid peroxidase in old order amish families

Cited by 34 publications

References 19 publications

Analysis of the CTLA-4, CD28, and inducible costimulator (ICOS) genes in autoimmune thyroid disease

Analysis of the CTLA-4, CD28, and inducible costimulator (ICOS) genes in autoimmune thyroid disease

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

Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred.

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