The polymorphisms in the thyroid peroxidase gene were associated with the development of autoimmune thyroid disease ...

[helvella]

One of the more common questions here is about the heritability of thyroid disease - very often Hashimoto's and Graves. We very clearly see patterns with sometimes many individuals in a family affected, sometimes only on "one side" of that family. So a genetic component doesn't just seem likely, the evidence (albeit "anecdotal") seems overwhelming. However, we also see people with not a single other family member affected.

Until we get a more comprehensive understanding of the genetics, and the effects of each associated genetic variation, it will tend to be interesting rather than of clinical utility. Nonetheless, if we can identify specific genetic patterns, we might see clinicians more accepting of genetic evidence as a reason to investigate.

Endocr J. 2017 Oct 28;64(10):1025-1032. doi: 10.1507/endocrj.EJ17-0191. Epub 2017 Aug 25.

The polymorphisms in the thyroid peroxidase gene were associated with the development of autoimmune thyroid disease and the serum levels of anti-thyroid peroxidase antibody.

Tomari S1, Watanabe M1, Inoue N1,2, Mizuma T1, Yamanaka C1, Hidaka Y2, Iwatani Y1.

Author information

1 Department of Biomedical Informatics Division of Health Sciences Osaka University Graduate School of Medicine, Suita 565-0871, Japan.

2 Laboratory for Clinical Investigation, Osaka University Hospital, Suita 565-0871, Japan.

Abstract

Graves' disease (GD) and Hashimoto's disease (HD) are well known autoimmune thyroid diseases (AITDs), and the severity and intractability of AITDs varies among patients. Thyroid peroxidase (TPO) is a thyroid-specific antigen. The levels of anti-thyroid peroxidase antibody (TPOAb) were higher in patients with HD and may be associated with thyroid destruction. In this study, we genotyped eight single nucleotide polymorphisms (SNPs) in the TPO gene to clarify the association of TPO gene polymorphisms with the development, severity and intractability of AITD. We genotyped TPO rs2071399G/A, rs2071400C/T, rs2071402A/G, rs2071403A/G, rs1126799C/T, rs1126797T/C, rs732609A/C, and rs2048722A/G polymorphisms in 145 patients with GD, 147 patients with HD and 92 healthy controls by PCR-RFLP method. TPO rs2071400 T carriers (CT + TT genotypes) were more frequent in AITD, GD, and HD patients (p=0.0079, 0.0041, and 0.0488, respectively). The TPO rs2071403 GG genotype was more frequent in AITD, GD, and HD patients (p=0.0227, 0.0465, and 0.0305, respectively). There was no significant association between the SNPs and the prognosis of AITD. Serum levels of TPOAb were significantly higher in AITD patients with TPO rs2071400 T carriers (CT + TT genotypes) than in those with the CC genotype (p=0.0295), and were also significantly higher in AITD patients with TPO rs2048722 T carriers (CT + TT genotypes) than in those with the CC genotype (p=0.0056). In conclusion, TPO rs2071400 and rs2071403 polymorphisms were associated with the development of HD and GD, but not with the prognosis. Moreover, TPO rs2071400 and rs2048722 polymorphisms were associated with the serum levels of TPOAb.

KEYWORDS:

Anti-thyroid peroxidase antibody; Graves’ disease; Hashimoto’s disease; Polymorphism; Severity

PMID: 28845025

DOI: 10.1507/endocrj.EJ17-0191

ncbi.nlm.nih.gov/pubmed/288...

PDF of full paper freely available here:

jstage.jst.go.jp/article/en...

Mich87

[crimple]

Thanks for posting. I am pretty sure that hypothyroid is genetic in my family. Dad's mother, 2 sisters and younger brother all affected and most of female cousins. Dad not affected but he has Crohn's disease! However myself and 2 of my 3 sisters also hypo but I am only one with Hashi's (after 5 years just hypo) and before diagnosis of hypo I was diagnosed with food intolerances. So don't think the hashis is hereditary in my case, just hypo!

Needless to say with Hashi Diagnosis I immediately adopted GF diet and then lacto free along with avoiding chicken and eggs (intolerant) I am now debating about adding T3 to levo as TSH = 0.05 (.27-4.2) T4 =16.6(12-22) T3 4.61(3.1-6.8) 0n 112.5mcg T4/T3 ratio = 3.6 and I have noticed my ratio needs to be nearer 3 to feel good!

[Hidden]

Hi my family also have Thyroid problems although none of us has ever been diagnosed with Graves or Hashimotos. All of us sisters have had their thyroids removed also gallbladders removed and sinus problems. This is with no history of over or under weight either. We were all brought up in different parts of the country too, i.e. adopted.

Two different fathers as well.

Also one niece with Crohns and thyroid problems.