Linkage Analysis of the Chromosome 5q31-33 Region Identifies JAKMIP2 as a Risk Factor for Graves' Disease in the Chinese Han Population

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research
Jia LiZhongyan Shan

Abstract

BACKGROUND This study aimed to investigate susceptibility to Graves's disease and the association with the 5q32-33.1 region on chromosome 5 in a Chinese Han population. MATERIAL AND METHODS Eighty Chinese Han multiplex families included first-degree and second-degree relatives with Graves' disease. Eight microsatellite markers on chromosome 5 at the 5q32-33.1 region underwent linkage analysis and the association between the regions D5S1480-D5S2014 were studied. RESULTS The maximal heterogeneity logarithm of the odds (HLOD) score of D5S2090 was 4.29 (α=0.42) and of D5S2014 was 4.01 (α=0.34). A nonparametric linkage (NPL) score of 3.14 (P<0.001) was found for D5S2014. The D5S1480-D5S2014 region on chromosome 5 was associated with Graves' disease, with eight haplotype domains. There were significant differences in the sixth and eighth haplotype domains between patients with Graves' disease compared with normal individuals. Tagging single nucleotide polymorphisms (SNPs) of the sixth and eighth haplotype domains showed that individuals with SNP62 (rs12653715 G/C) who were GG homozygous had a significantly increased risk of Graves' disease compared GC heterozygous or CC homozygous individuals. The transmission disequilibrium test (TD...Continue Reading

Citations

Jul 22, 2021·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Juan DuHongsong Yu

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Methods Mentioned

BETA
electrophoresis
genotyping

Software Mentioned

GeneHunter
GeneMapper
SPSS
UCSC Genome Browser
Haploview

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