Association of SNCA variants with α-synuclein of gastric and colonic mucosa in Parkinson's disease

Sun Ju Chung; Inke R König; Katja Lohmann; Frauke Hinrichs; Juyeon Kim; Ho-Sung Ryu; Hyo Jeong Lee; Kiju Kim; Jeong Hoon Lee; Kee Wook Jung; Mi-Jung Kim; Mi-Jung Kim; Young Jin Kim; Sung-Cheol Yun; Seung-Mo Hong; Seung-Jae Myung; Christine Klein

doi:10.1016/j.parkreldis.2018.10.028

Association of SNCA variants with α-synuclein of gastric and colonic mucosa in Parkinson's disease

Sun Ju Chung, Inke R König, Katja Lohmann, Frauke Hinrichs, Juyeon Kim, Ho-Sung Ryu, Hyo Jeong Lee, Kiju Kim, Jeong Hoon Lee, Kee Wook Jung, Mi-Jung Kim, Mi-Jung Kim, Young Jin Kim, Sung-Cheol Yun, Seung-Mo Hong, Seung-Jae Myung, Christine Klein

Abstract

BACKGROUND: Alpha-synuclein (α-Syn) immunostaining in the enteric nervous system (ENS) has been investigated to determine the role of diagnostic biomarker of Parkinson's disease (PD). However, determining factors for alpha-synuclein (α-Syn) deposition in the ENS of humans are still unclear. We aimed to investigate a possible association between SNCA variants and the presence of α-Syn immunostaining in the ENS in patients with PD and healthy individuals.

METHODS: The study subjects consisted of 38 patients with PD and 46 healthy individuals. α-Syn immunohistochemistry was performed for gastric and colonic mucosal tissues of patients with PD and controls. Mucosal biopsy tissues of the ENS were obtained using standard biopsy forceps by endoscopic gastroduodenoscopy or colonoscopy. Two variants within the SNCA gene (the single nucleotide polymorphism [SNP] rs11931074 and the microsatellite REP1) were genotyped.

RESULTS: In patients with PD, the rs11931074 (G allele) was significantly associated with the presence of α-Syn immunostaining in the ENS (OR = 5.96, 95% CI = 1.70-20.97, P = 0.01). In an interaction analysis, SNP rs11931074-PD status interaction was significantly associated with positive α-Syn immunostaining in the ENS (OR = 7.33, 95% CI = 1.58-33.88, P = 0.01). Longer SNCA REP1 alleles were not associated with positive α-Syn immunostaining in the ENS.

CONCLUSION: This exploratory study demonstrated that α-Syn deposition in the ENS may be associated with SNCA variants in patients with PD.

Original language	English
Journal	Parkinsonism and Related Disorders
Volume	61
Pages (from-to)	151-155
Number of pages	5
ISSN	1353-8020
DOIs	https://doi.org/10.1016/j.parkreldis.2018.10.028
Publication status	Published - 01.04.2019

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Chung, S. J., König, I. R., Lohmann, K., Hinrichs, F., Kim, J., Ryu, H-S., Lee, H. J., Kim, K., Lee, J. H., Jung, K. W., Kim, M-J., Kim, M-J., Kim, Y. J., Yun, S-C., Hong, S-M., Myung, S-J., & Klein, C. (2019). Association of SNCA variants with α-synuclein of gastric and colonic mucosa in Parkinson's disease. Parkinsonism and Related Disorders, 61, 151-155. https://doi.org/10.1016/j.parkreldis.2018.10.028

@article{d30033ad65da436ba5452b5fcdb2b36a,

title = "Association of SNCA variants with α-synuclein of gastric and colonic mucosa in Parkinson's disease",

abstract = "BACKGROUND: Alpha-synuclein (α-Syn) immunostaining in the enteric nervous system (ENS) has been investigated to determine the role of diagnostic biomarker of Parkinson's disease (PD). However, determining factors for alpha-synuclein (α-Syn) deposition in the ENS of humans are still unclear. We aimed to investigate a possible association between SNCA variants and the presence of α-Syn immunostaining in the ENS in patients with PD and healthy individuals.METHODS: The study subjects consisted of 38 patients with PD and 46 healthy individuals. α-Syn immunohistochemistry was performed for gastric and colonic mucosal tissues of patients with PD and controls. Mucosal biopsy tissues of the ENS were obtained using standard biopsy forceps by endoscopic gastroduodenoscopy or colonoscopy. Two variants within the SNCA gene (the single nucleotide polymorphism [SNP] rs11931074 and the microsatellite REP1) were genotyped.RESULTS: In patients with PD, the rs11931074 (G allele) was significantly associated with the presence of α-Syn immunostaining in the ENS (OR = 5.96, 95% CI = 1.70-20.97, P = 0.01). In an interaction analysis, SNP rs11931074-PD status interaction was significantly associated with positive α-Syn immunostaining in the ENS (OR = 7.33, 95% CI = 1.58-33.88, P = 0.01). Longer SNCA REP1 alleles were not associated with positive α-Syn immunostaining in the ENS.CONCLUSION: This exploratory study demonstrated that α-Syn deposition in the ENS may be associated with SNCA variants in patients with PD.",

author = "Chung, {Sun Ju} and K{\"o}nig, {Inke R} and Katja Lohmann and Frauke Hinrichs and Juyeon Kim and Ho-Sung Ryu and Lee, {Hyo Jeong} and Kiju Kim and Lee, {Jeong Hoon} and Jung, {Kee Wook} and Mi-Jung Kim and Mi-Jung Kim and Kim, {Young Jin} and Sung-Cheol Yun and Seung-Mo Hong and Seung-Jae Myung and Christine Klein",

year = "2019",

month = apr,

day = "1",

doi = "10.1016/j.parkreldis.2018.10.028",

language = "English",

volume = "61",

pages = "151--155",

journal = "Parkinsonism and Related Disorders",

issn = "1353-8020",

publisher = "Elsevier B.V.",

}

Chung, SJ, König, IR , Lohmann, K, Hinrichs, F, Kim, J, Ryu, H-S, Lee, HJ, Kim, K, Lee, JH, Jung, KW, Kim, M-J, Kim, M-J, Kim, YJ, Yun, S-C, Hong, S-M, Myung, S-J & Klein, C 2019, 'Association of SNCA variants with α-synuclein of gastric and colonic mucosa in Parkinson's disease', Parkinsonism and Related Disorders, vol. 61, pp. 151-155. https://doi.org/10.1016/j.parkreldis.2018.10.028

TY - JOUR

T1 - Association of SNCA variants with α-synuclein of gastric and colonic mucosa in Parkinson's disease

AU - Chung, Sun Ju

AU - König, Inke R

AU - Lohmann, Katja

AU - Hinrichs, Frauke

AU - Kim, Juyeon

AU - Ryu, Ho-Sung

AU - Lee, Hyo Jeong

AU - Kim, Kiju

AU - Lee, Jeong Hoon

AU - Jung, Kee Wook

AU - Kim, Mi-Jung

AU - Kim, Young Jin

AU - Yun, Sung-Cheol

AU - Hong, Seung-Mo

AU - Myung, Seung-Jae

AU - Klein, Christine

PY - 2019/4/1

Y1 - 2019/4/1

N2 - BACKGROUND: Alpha-synuclein (α-Syn) immunostaining in the enteric nervous system (ENS) has been investigated to determine the role of diagnostic biomarker of Parkinson's disease (PD). However, determining factors for alpha-synuclein (α-Syn) deposition in the ENS of humans are still unclear. We aimed to investigate a possible association between SNCA variants and the presence of α-Syn immunostaining in the ENS in patients with PD and healthy individuals.METHODS: The study subjects consisted of 38 patients with PD and 46 healthy individuals. α-Syn immunohistochemistry was performed for gastric and colonic mucosal tissues of patients with PD and controls. Mucosal biopsy tissues of the ENS were obtained using standard biopsy forceps by endoscopic gastroduodenoscopy or colonoscopy. Two variants within the SNCA gene (the single nucleotide polymorphism [SNP] rs11931074 and the microsatellite REP1) were genotyped.RESULTS: In patients with PD, the rs11931074 (G allele) was significantly associated with the presence of α-Syn immunostaining in the ENS (OR = 5.96, 95% CI = 1.70-20.97, P = 0.01). In an interaction analysis, SNP rs11931074-PD status interaction was significantly associated with positive α-Syn immunostaining in the ENS (OR = 7.33, 95% CI = 1.58-33.88, P = 0.01). Longer SNCA REP1 alleles were not associated with positive α-Syn immunostaining in the ENS.CONCLUSION: This exploratory study demonstrated that α-Syn deposition in the ENS may be associated with SNCA variants in patients with PD.

AB - BACKGROUND: Alpha-synuclein (α-Syn) immunostaining in the enteric nervous system (ENS) has been investigated to determine the role of diagnostic biomarker of Parkinson's disease (PD). However, determining factors for alpha-synuclein (α-Syn) deposition in the ENS of humans are still unclear. We aimed to investigate a possible association between SNCA variants and the presence of α-Syn immunostaining in the ENS in patients with PD and healthy individuals.METHODS: The study subjects consisted of 38 patients with PD and 46 healthy individuals. α-Syn immunohistochemistry was performed for gastric and colonic mucosal tissues of patients with PD and controls. Mucosal biopsy tissues of the ENS were obtained using standard biopsy forceps by endoscopic gastroduodenoscopy or colonoscopy. Two variants within the SNCA gene (the single nucleotide polymorphism [SNP] rs11931074 and the microsatellite REP1) were genotyped.RESULTS: In patients with PD, the rs11931074 (G allele) was significantly associated with the presence of α-Syn immunostaining in the ENS (OR = 5.96, 95% CI = 1.70-20.97, P = 0.01). In an interaction analysis, SNP rs11931074-PD status interaction was significantly associated with positive α-Syn immunostaining in the ENS (OR = 7.33, 95% CI = 1.58-33.88, P = 0.01). Longer SNCA REP1 alleles were not associated with positive α-Syn immunostaining in the ENS.CONCLUSION: This exploratory study demonstrated that α-Syn deposition in the ENS may be associated with SNCA variants in patients with PD.

UR - http://www.scopus.com/inward/record.url?scp=85056347976&partnerID=8YFLogxK

UR - http://www.mendeley.com/research/association-snca-variants-%CE%B1synuclein-gastric-colonic-mucosa-parkinsons-disease

U2 - 10.1016/j.parkreldis.2018.10.028

DO - 10.1016/j.parkreldis.2018.10.028

M3 - Journal articles

C2 - 30424941

SN - 1353-8020

VL - 61

SP - 151

EP - 155

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

ER -

Association of SNCA variants with α-synuclein of gastric and colonic mucosa in Parkinson's disease

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