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

Area of Science:

• Endocrinology
• Genetics
• Immunology

Background:

• The genetic factors influencing autoimmune thyroid diseases (AITDs) remain incompletely understood.
• Previous research has not definitively established a link between preproghrelin gene polymorphisms and AITDs.

Purpose of the Study:

• To investigate the association between two specific preproghrelin gene polymorphisms (rs696217 and rs4684677) and the susceptibility to Graves' disease (GD) and Hashimoto's thyroiditis (HT) in pediatric populations.
• To identify potential genetic risk factors for AITDs in children.

Main Methods:

• Genotyping of single nucleotide polymorphisms (SNPs) rs696217 and rs4684677 in the preproghrelin gene was performed using TaqMan SNP genotyping assay with real-time PCR.
• The study included 145 patients with GD, 87 with HT, and 161 healthy controls.

Main Results:

• The T allele of rs4684677 was significantly more frequent in children with HT compared to healthy controls (p = 0.002), indicating it as a risk factor (OR = 8.0).
• In female patients, the rs4684677 T allele was also more prevalent in HT cases than in controls (p = 0.02).
• No significant difference in rs696217 frequency was observed between groups, but it showed associations with anti-TSHR antibodies, anti-TG antibodies, and fT4 levels in specific patient subgroups.

Conclusions:

• The rs4684677 T/A polymorphism in the preproghrelin gene may contribute to the development of AITDs in children.
• The T allele of rs4684677 is identified as a primary genetic risk factor for pediatric AITDs.