STK39, but Not BST1, HLA-DQB1, and SPPL2B polymorphism, is associated with Han-Chinese Parkinson's disease in Taiwan

Kuo Hsuan Chang, Yih Ru Wu, Yi Chun Chen, Hon Chung Fung, Guey Jen Lee-Chen, Chiung Mei Chen

Research output: Contribution to journalArticle

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Abstract

Neuroinflammation is emerging as an important pathway involved in Parkinson's disease (PD) pathogenesis. Herein, we investigated the effect of 4 top PD-associated genetic variants in Caucasians listed on the top risk loci identified by meta-analysis of genome wideassociation studies in PDGene database (http://www.pdgene.org/top- results), including serine threonine kinase 39 (STK39) rs1955337, bone marrow stromal cell antigen 1 (BST1) rs11724635, major histocompatibility complex, class II, DQ beta 1 (HLA-DQB1) rs9275326, and signal peptide peptidase-like 2B (SPPL2B) rs62120679, by genotyping 596 Han-Chinese patients with PD and 597 age-matched control subjects. Compared with subjects with STK39 rs1955337 GG genotype, those with TT genotype had a 1.64-fold increased risk of PD (95% confidence interval: 1.13-2.39, P=0.010). The recessive model also demonstrated an increased PD risk in TT genotype (odds ratio: 1.59, 95% confidence interval: 1.12-2.27) compared with the other genotypes (GT+GG). PD patients demonstrate a similar genotypic and allelic frequency in BST1 rs11724635, HLA-DQB1 rs9275326, and SPPL2B rs62120679 compared with controls. These findings suggested that the STK39 rs1955337 TT genotype is a risk factor for Han-Chinese patients with PD in Taiwan. The ethnic discrepancies of the other 3 genetic variants may indicate a distinct genetic background of neuroinflammation between PD patients in Han-Chinese and Caucasians.

Original languageEnglish
Article numbere1690
JournalMedicine (United States)
Volume94
Issue number41
DOIs
Publication statusPublished - 2015 Jan 1

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Protein-Serine-Threonine Kinases
Taiwan
Parkinson Disease
Genotype
Confidence Intervals
signal peptide peptidase
HLA-DQB1 antigen
Major Histocompatibility Complex
Meta-Analysis
Odds Ratio
Genome
Databases

ASJC Scopus subject areas

  • Medicine(all)

Cite this

STK39, but Not BST1, HLA-DQB1, and SPPL2B polymorphism, is associated with Han-Chinese Parkinson's disease in Taiwan. / Chang, Kuo Hsuan; Wu, Yih Ru; Chen, Yi Chun; Fung, Hon Chung; Lee-Chen, Guey Jen; Chen, Chiung Mei.

In: Medicine (United States), Vol. 94, No. 41, e1690, 01.01.2015.

Research output: Contribution to journalArticle

Chang, Kuo Hsuan ; Wu, Yih Ru ; Chen, Yi Chun ; Fung, Hon Chung ; Lee-Chen, Guey Jen ; Chen, Chiung Mei. / STK39, but Not BST1, HLA-DQB1, and SPPL2B polymorphism, is associated with Han-Chinese Parkinson's disease in Taiwan. In: Medicine (United States). 2015 ; Vol. 94, No. 41.
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abstract = "Neuroinflammation is emerging as an important pathway involved in Parkinson's disease (PD) pathogenesis. Herein, we investigated the effect of 4 top PD-associated genetic variants in Caucasians listed on the top risk loci identified by meta-analysis of genome wideassociation studies in PDGene database (http://www.pdgene.org/top- results), including serine threonine kinase 39 (STK39) rs1955337, bone marrow stromal cell antigen 1 (BST1) rs11724635, major histocompatibility complex, class II, DQ beta 1 (HLA-DQB1) rs9275326, and signal peptide peptidase-like 2B (SPPL2B) rs62120679, by genotyping 596 Han-Chinese patients with PD and 597 age-matched control subjects. Compared with subjects with STK39 rs1955337 GG genotype, those with TT genotype had a 1.64-fold increased risk of PD (95{\%} confidence interval: 1.13-2.39, P=0.010). The recessive model also demonstrated an increased PD risk in TT genotype (odds ratio: 1.59, 95{\%} confidence interval: 1.12-2.27) compared with the other genotypes (GT+GG). PD patients demonstrate a similar genotypic and allelic frequency in BST1 rs11724635, HLA-DQB1 rs9275326, and SPPL2B rs62120679 compared with controls. These findings suggested that the STK39 rs1955337 TT genotype is a risk factor for Han-Chinese patients with PD in Taiwan. The ethnic discrepancies of the other 3 genetic variants may indicate a distinct genetic background of neuroinflammation between PD patients in Han-Chinese and Caucasians.",
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AB - Neuroinflammation is emerging as an important pathway involved in Parkinson's disease (PD) pathogenesis. Herein, we investigated the effect of 4 top PD-associated genetic variants in Caucasians listed on the top risk loci identified by meta-analysis of genome wideassociation studies in PDGene database (http://www.pdgene.org/top- results), including serine threonine kinase 39 (STK39) rs1955337, bone marrow stromal cell antigen 1 (BST1) rs11724635, major histocompatibility complex, class II, DQ beta 1 (HLA-DQB1) rs9275326, and signal peptide peptidase-like 2B (SPPL2B) rs62120679, by genotyping 596 Han-Chinese patients with PD and 597 age-matched control subjects. Compared with subjects with STK39 rs1955337 GG genotype, those with TT genotype had a 1.64-fold increased risk of PD (95% confidence interval: 1.13-2.39, P=0.010). The recessive model also demonstrated an increased PD risk in TT genotype (odds ratio: 1.59, 95% confidence interval: 1.12-2.27) compared with the other genotypes (GT+GG). PD patients demonstrate a similar genotypic and allelic frequency in BST1 rs11724635, HLA-DQB1 rs9275326, and SPPL2B rs62120679 compared with controls. These findings suggested that the STK39 rs1955337 TT genotype is a risk factor for Han-Chinese patients with PD in Taiwan. The ethnic discrepancies of the other 3 genetic variants may indicate a distinct genetic background of neuroinflammation between PD patients in Han-Chinese and Caucasians.

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