Abstract
In the present study, we aimed to assess the associations of C1q gene polymorphisms with autoimmune thyroid diseases (AITD) susceptibility. A set of 1,003 AITD patients (661 with Graves' disease and 342 with Hashimoto's thyroiditis) and 880 ethnically- and geographically-matched controls from Chinese Han population were included. Five common single nucleotide polymorphisms (SNPs) (rs294185, rs292001, rs682658, rs665691 and rs294179) in C1q gene locus were genotyped. Frequencies of genotypes and alleles were compared between patients and controls, and haplotype analysis was also performed. There was no statistically significant difference between AITD patients and controls in the frequencies of alleles of rs294185 (P = 0.41), rs292001 (P = 0.71), rs682658 (P = 0.68), rs665691 (P = 0.68) and rs294179 (P = 0.69). There was also no statistically significant difference between AITD patients and controls in the frequencies of genotypes of rs294185 (P = 0.72), rs292001 (P = 0.89), rs682658 (P = 0.83), rs665691 (P = 0.90) and rs294179 (P = 0.43). Stratified analyses showed that none of those five SNPs in C1q gene were associated with Graves' disease or Hashimoto's thyroiditis (all P values > 0.05). Haplotype analysis revealed that there were no obvious genetic associations of C1q gene polymorphisms with AITD susceptibility. We, for the first time, identified the associations between C1q gene SNPs and AITD, and our findings suggested that five common SNPs in C1q gene were not associated with AITD susceptibility in Chinese Han population.
Highlights
Autoimmune thyroid diseases (AITD) are common autoimmune disorders in endocrinologic system, affecting about 5% of overall population [1]
We aimed to assess the associations of C1q gene polymorphisms with AITD susceptibility
We recruited a set of 1,003 AITD patients (661 with Graves’ disease (GD) and 342 with Hashimoto’s thyroiditis (HT)) and 880 ethnically- and geographically-matched controls from Chinese Han population, and examined the associations of five commonly detected single nucleotide polymorphisms (SNPs) in C1q gene with AITD susceptibility
Summary
Autoimmune thyroid diseases (AITD) are common autoimmune disorders in endocrinologic system, affecting about 5% of overall population [1]. SNPs in the C1q gene have been reported to be associated with several common autoimmune diseases, such as systemic lupus erythematosus (SLE) and rheumatoid arthritis. The roles of C1q gene SNPs in AITD susceptibility remain poorly explored.
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