Single nucleotide polymorphisms at the PRR3, ABCF1, and GNL1 genes in the HLA class I region are associated with graves' ophthalmopathy in a gender-dependent manner

Yu Huei Liu, Yi Ju Chen, Hsin-Hung Wu, Tzu Yuan Wang, Fuu Jen Tsai

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Objective: To investigate whether a conserved HLA class I region influenced the development of Graves' ophthalmopathy (GO) in patients with Graves' disease (GD) in a Taiwan-Chinese population.

Design: Case-control study.

Participants: Four hundred sixty-eight Taiwan-Chinese patients with GD; 200 of these patients had GO, whereas 268 patients did not.

Methods: Five single nucleotide polymorphisms (SNPs) between the HLA-A and HLA-C loci were genotyped.

Main Outcome Measures: The ManneWhitney U test and chi-square test with Bonferroni correction were used. The odds ratios (ORs) were estimated by applying unconditional logistic regression with a 95% confidence intervals (CIs).

Results: Strong gender effects on the distribution of the SNPs were apparent: male GD patients carrying an A allele at rs2074503 in the PRR3 gene tended to avoid demonstrating GO (P = 0.008; OR, 0.450; 95% CI, 0.248-0.819), whereas female patients tended to show GO (P = 0.01; OR, 1.486; 95% CI, 1.098-2.012). In addition, only the female GD patients with a T allele at rs1264439 in the ABCF-1 gene tended to demonstrate GO (P = 0.005; OR, 1.539; 95% CI, 1.139-2.081). Analysis of the haplotype blocks of the SNPs rs2074505 (GNL1) and rs2074503 (PRR3) showed that haplotype HA1 was underrepresented in male GO patients (P = 0.004; OR, 0.418; 95% CI, 0.228-0.767), whereas HA-4 was underrepresented in female GO patients (P = 0.007; OR, 0.660; 95% CI, 0.490-0.895).

Conclusions: The results suggested that SNPs at PRR3 and ABCF1 genes and the haplotype composed by SNPs at GNL1 and PRR3 between the HLA-A and HLA-C genes tended to predict GO in a gender-dependent manner in patients with GD in Taiwan.

Original languageEnglish
Pages (from-to)2033-2039
Number of pages7
JournalOphthalmology
Volume121
Issue number10
DOIs
Publication statusPublished - 2014 Jan 1

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Graves Ophthalmopathy
MHC Class I Genes
Single Nucleotide Polymorphism
Graves Disease
Odds Ratio
Confidence Intervals
Taiwan
HLA-C Antigens
Haplotypes
HLA-A Antigens
Genes
Alleles
Chi-Square Distribution
Case-Control Studies
Logistic Models
Outcome Assessment (Health Care)

All Science Journal Classification (ASJC) codes

  • Ophthalmology

Cite this

@article{8623c5013d704266899bcd90b50fefcd,
title = "Single nucleotide polymorphisms at the PRR3, ABCF1, and GNL1 genes in the HLA class I region are associated with graves' ophthalmopathy in a gender-dependent manner",
abstract = "Objective: To investigate whether a conserved HLA class I region influenced the development of Graves' ophthalmopathy (GO) in patients with Graves' disease (GD) in a Taiwan-Chinese population.Design: Case-control study.Participants: Four hundred sixty-eight Taiwan-Chinese patients with GD; 200 of these patients had GO, whereas 268 patients did not.Methods: Five single nucleotide polymorphisms (SNPs) between the HLA-A and HLA-C loci were genotyped.Main Outcome Measures: The ManneWhitney U test and chi-square test with Bonferroni correction were used. The odds ratios (ORs) were estimated by applying unconditional logistic regression with a 95{\%} confidence intervals (CIs).Results: Strong gender effects on the distribution of the SNPs were apparent: male GD patients carrying an A allele at rs2074503 in the PRR3 gene tended to avoid demonstrating GO (P = 0.008; OR, 0.450; 95{\%} CI, 0.248-0.819), whereas female patients tended to show GO (P = 0.01; OR, 1.486; 95{\%} CI, 1.098-2.012). In addition, only the female GD patients with a T allele at rs1264439 in the ABCF-1 gene tended to demonstrate GO (P = 0.005; OR, 1.539; 95{\%} CI, 1.139-2.081). Analysis of the haplotype blocks of the SNPs rs2074505 (GNL1) and rs2074503 (PRR3) showed that haplotype HA1 was underrepresented in male GO patients (P = 0.004; OR, 0.418; 95{\%} CI, 0.228-0.767), whereas HA-4 was underrepresented in female GO patients (P = 0.007; OR, 0.660; 95{\%} CI, 0.490-0.895).Conclusions: The results suggested that SNPs at PRR3 and ABCF1 genes and the haplotype composed by SNPs at GNL1 and PRR3 between the HLA-A and HLA-C genes tended to predict GO in a gender-dependent manner in patients with GD in Taiwan.",
author = "Liu, {Yu Huei} and Chen, {Yi Ju} and Hsin-Hung Wu and Wang, {Tzu Yuan} and Tsai, {Fuu Jen}",
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Single nucleotide polymorphisms at the PRR3, ABCF1, and GNL1 genes in the HLA class I region are associated with graves' ophthalmopathy in a gender-dependent manner. / Liu, Yu Huei; Chen, Yi Ju; Wu, Hsin-Hung; Wang, Tzu Yuan; Tsai, Fuu Jen.

In: Ophthalmology, Vol. 121, No. 10, 01.01.2014, p. 2033-2039.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Single nucleotide polymorphisms at the PRR3, ABCF1, and GNL1 genes in the HLA class I region are associated with graves' ophthalmopathy in a gender-dependent manner

AU - Liu, Yu Huei

AU - Chen, Yi Ju

AU - Wu, Hsin-Hung

AU - Wang, Tzu Yuan

AU - Tsai, Fuu Jen

PY - 2014/1/1

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N2 - Objective: To investigate whether a conserved HLA class I region influenced the development of Graves' ophthalmopathy (GO) in patients with Graves' disease (GD) in a Taiwan-Chinese population.Design: Case-control study.Participants: Four hundred sixty-eight Taiwan-Chinese patients with GD; 200 of these patients had GO, whereas 268 patients did not.Methods: Five single nucleotide polymorphisms (SNPs) between the HLA-A and HLA-C loci were genotyped.Main Outcome Measures: The ManneWhitney U test and chi-square test with Bonferroni correction were used. The odds ratios (ORs) were estimated by applying unconditional logistic regression with a 95% confidence intervals (CIs).Results: Strong gender effects on the distribution of the SNPs were apparent: male GD patients carrying an A allele at rs2074503 in the PRR3 gene tended to avoid demonstrating GO (P = 0.008; OR, 0.450; 95% CI, 0.248-0.819), whereas female patients tended to show GO (P = 0.01; OR, 1.486; 95% CI, 1.098-2.012). In addition, only the female GD patients with a T allele at rs1264439 in the ABCF-1 gene tended to demonstrate GO (P = 0.005; OR, 1.539; 95% CI, 1.139-2.081). Analysis of the haplotype blocks of the SNPs rs2074505 (GNL1) and rs2074503 (PRR3) showed that haplotype HA1 was underrepresented in male GO patients (P = 0.004; OR, 0.418; 95% CI, 0.228-0.767), whereas HA-4 was underrepresented in female GO patients (P = 0.007; OR, 0.660; 95% CI, 0.490-0.895).Conclusions: The results suggested that SNPs at PRR3 and ABCF1 genes and the haplotype composed by SNPs at GNL1 and PRR3 between the HLA-A and HLA-C genes tended to predict GO in a gender-dependent manner in patients with GD in Taiwan.

AB - Objective: To investigate whether a conserved HLA class I region influenced the development of Graves' ophthalmopathy (GO) in patients with Graves' disease (GD) in a Taiwan-Chinese population.Design: Case-control study.Participants: Four hundred sixty-eight Taiwan-Chinese patients with GD; 200 of these patients had GO, whereas 268 patients did not.Methods: Five single nucleotide polymorphisms (SNPs) between the HLA-A and HLA-C loci were genotyped.Main Outcome Measures: The ManneWhitney U test and chi-square test with Bonferroni correction were used. The odds ratios (ORs) were estimated by applying unconditional logistic regression with a 95% confidence intervals (CIs).Results: Strong gender effects on the distribution of the SNPs were apparent: male GD patients carrying an A allele at rs2074503 in the PRR3 gene tended to avoid demonstrating GO (P = 0.008; OR, 0.450; 95% CI, 0.248-0.819), whereas female patients tended to show GO (P = 0.01; OR, 1.486; 95% CI, 1.098-2.012). In addition, only the female GD patients with a T allele at rs1264439 in the ABCF-1 gene tended to demonstrate GO (P = 0.005; OR, 1.539; 95% CI, 1.139-2.081). Analysis of the haplotype blocks of the SNPs rs2074505 (GNL1) and rs2074503 (PRR3) showed that haplotype HA1 was underrepresented in male GO patients (P = 0.004; OR, 0.418; 95% CI, 0.228-0.767), whereas HA-4 was underrepresented in female GO patients (P = 0.007; OR, 0.660; 95% CI, 0.490-0.895).Conclusions: The results suggested that SNPs at PRR3 and ABCF1 genes and the haplotype composed by SNPs at GNL1 and PRR3 between the HLA-A and HLA-C genes tended to predict GO in a gender-dependent manner in patients with GD in Taiwan.

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