Association of apoptosis genes in PDCD1 but not PDCD1LG2, FAS, and FASLG with pediatric idiopathic uveitis in Han Chinese

Tingting Pang; Liping Du; Fuzhen Li; Yizong Liu; Xin Ma; Qingfeng Cao; Liying Shi; Na Li; Aize Kijlstra; Peizeng Yang

doi:10.1038/s41390-019-0612-4

Association of apoptosis genes in PDCD1 but not PDCD1LG2, FAS, and FASLG with pediatric idiopathic uveitis in Han Chinese

Tingting Pang, Liping Du, Fuzhen Li, Yizong Liu, Xin Ma, Qingfeng Cao, Liying Shi, Na Li, Aize Kijlstra, Peizeng Yang^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

5 Citations (Web of Science)

Abstract

BACKGROUND: Previous studies have shown that aberrant T lymphocyte apoptosis is involved in the pathogenesis of uveitis. Genetic variants of apoptotic pathway-related factors (including PDCD1, PDCD1LG2, FAS, and FASLG) may affect apoptosis and in turn predict susceptibility to autoimmune disease. This has not yet been studied in pediatric idiopathic uveitis (PIU) and juvenile idiopathic arthritis (JIA)-associated uveitis and was therefore the subject of the study presented here.

METHODS: Fourteen single-nucleotide polymorphisms (SNPs) of several apoptosis-related pathway genes were analyzed in 1238 PIU patients, 128 JIA-associated uveitis patients and 1114 healthy controls using the iPLEX Gold Assay and MassARRAY platform.

RESULTS: A lower frequency of the PDCD1/rs6710479 CC genotype in PIU patients was found when compared to controls (Pc = 3.42 × 10-3). A higher frequency of the PDCD1/rs7421861 A allele (Pc = 4.85 × 10-3) was observed in PIU patients as compared with controls. Stratification analysis showed a positive association of band keratopathy with the PDCD1/rs7565639 CT genotype (Pc = 1.05 × 10-2) and a negative association of this parameter with the PDCD1/rs7565639 C allele (Pc = 3.76 × 10-2).

CONCLUSIONS: This study revealed that rs6710479 and rs7421861 in the PDCD1 gene confer susceptibility to PIU in Han Chinese. A stratified analysis showed that PDCD1/rs7565639 is associated with band keratopathy in PIU patients.

Original language	English
Pages (from-to)	634-638
Number of pages	5
Journal	Pediatric Research
Volume	87
Issue number	4
DOIs	https://doi.org/10.1038/s41390-019-0612-4
Publication status	Published - Mar 2020

Keywords

NF-KAPPA-B
SINGLE NUCLEOTIDE POLYMORPHISMS
SYSTEMIC-LUPUS-ERYTHEMATOSUS
EXPRESSION
PD-1
SUSCEPTIBILITY
MOLECULES
DISEASE
PROTEIN
LYMPHOCYTES

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10.1038/s41390-019-0612-4

Cite this

@article{9f60848e79ab4d7fa4a2da730204eaac,

title = "Association of apoptosis genes in PDCD1 but not PDCD1LG2, FAS, and FASLG with pediatric idiopathic uveitis in Han Chinese",

abstract = "BACKGROUND: Previous studies have shown that aberrant T lymphocyte apoptosis is involved in the pathogenesis of uveitis. Genetic variants of apoptotic pathway-related factors (including PDCD1, PDCD1LG2, FAS, and FASLG) may affect apoptosis and in turn predict susceptibility to autoimmune disease. This has not yet been studied in pediatric idiopathic uveitis (PIU) and juvenile idiopathic arthritis (JIA)-associated uveitis and was therefore the subject of the study presented here.METHODS: Fourteen single-nucleotide polymorphisms (SNPs) of several apoptosis-related pathway genes were analyzed in 1238 PIU patients, 128 JIA-associated uveitis patients and 1114 healthy controls using the iPLEX Gold Assay and MassARRAY platform.RESULTS: A lower frequency of the PDCD1/rs6710479 CC genotype in PIU patients was found when compared to controls (Pc = 3.42 × 10-3). A higher frequency of the PDCD1/rs7421861 A allele (Pc = 4.85 × 10-3) was observed in PIU patients as compared with controls. Stratification analysis showed a positive association of band keratopathy with the PDCD1/rs7565639 CT genotype (Pc = 1.05 × 10-2) and a negative association of this parameter with the PDCD1/rs7565639 C allele (Pc = 3.76 × 10-2).CONCLUSIONS: This study revealed that rs6710479 and rs7421861 in the PDCD1 gene confer susceptibility to PIU in Han Chinese. A stratified analysis showed that PDCD1/rs7565639 is associated with band keratopathy in PIU patients.",

keywords = "NF-KAPPA-B, SINGLE NUCLEOTIDE POLYMORPHISMS, SYSTEMIC-LUPUS-ERYTHEMATOSUS, EXPRESSION, PD-1, SUSCEPTIBILITY, MOLECULES, DISEASE, PROTEIN, LYMPHOCYTES",

author = "Tingting Pang and Liping Du and Fuzhen Li and Yizong Liu and Xin Ma and Qingfeng Cao and Liying Shi and Na Li and Aize Kijlstra and Peizeng Yang",

year = "2020",

month = mar,

doi = "10.1038/s41390-019-0612-4",

language = "English",

volume = "87",

pages = "634--638",

journal = "Pediatric Research",

issn = "0031-3998",

publisher = "Nature Publishing Group",

number = "4",

}

TY - JOUR

T1 - Association of apoptosis genes in PDCD1 but not PDCD1LG2, FAS, and FASLG with pediatric idiopathic uveitis in Han Chinese

AU - Pang, Tingting

AU - Du, Liping

AU - Li, Fuzhen

AU - Liu, Yizong

AU - Ma, Xin

AU - Cao, Qingfeng

AU - Shi, Liying

AU - Li, Na

AU - Kijlstra, Aize

AU - Yang, Peizeng

PY - 2020/3

Y1 - 2020/3

N2 - BACKGROUND: Previous studies have shown that aberrant T lymphocyte apoptosis is involved in the pathogenesis of uveitis. Genetic variants of apoptotic pathway-related factors (including PDCD1, PDCD1LG2, FAS, and FASLG) may affect apoptosis and in turn predict susceptibility to autoimmune disease. This has not yet been studied in pediatric idiopathic uveitis (PIU) and juvenile idiopathic arthritis (JIA)-associated uveitis and was therefore the subject of the study presented here.METHODS: Fourteen single-nucleotide polymorphisms (SNPs) of several apoptosis-related pathway genes were analyzed in 1238 PIU patients, 128 JIA-associated uveitis patients and 1114 healthy controls using the iPLEX Gold Assay and MassARRAY platform.RESULTS: A lower frequency of the PDCD1/rs6710479 CC genotype in PIU patients was found when compared to controls (Pc = 3.42 × 10-3). A higher frequency of the PDCD1/rs7421861 A allele (Pc = 4.85 × 10-3) was observed in PIU patients as compared with controls. Stratification analysis showed a positive association of band keratopathy with the PDCD1/rs7565639 CT genotype (Pc = 1.05 × 10-2) and a negative association of this parameter with the PDCD1/rs7565639 C allele (Pc = 3.76 × 10-2).CONCLUSIONS: This study revealed that rs6710479 and rs7421861 in the PDCD1 gene confer susceptibility to PIU in Han Chinese. A stratified analysis showed that PDCD1/rs7565639 is associated with band keratopathy in PIU patients.

AB - BACKGROUND: Previous studies have shown that aberrant T lymphocyte apoptosis is involved in the pathogenesis of uveitis. Genetic variants of apoptotic pathway-related factors (including PDCD1, PDCD1LG2, FAS, and FASLG) may affect apoptosis and in turn predict susceptibility to autoimmune disease. This has not yet been studied in pediatric idiopathic uveitis (PIU) and juvenile idiopathic arthritis (JIA)-associated uveitis and was therefore the subject of the study presented here.METHODS: Fourteen single-nucleotide polymorphisms (SNPs) of several apoptosis-related pathway genes were analyzed in 1238 PIU patients, 128 JIA-associated uveitis patients and 1114 healthy controls using the iPLEX Gold Assay and MassARRAY platform.RESULTS: A lower frequency of the PDCD1/rs6710479 CC genotype in PIU patients was found when compared to controls (Pc = 3.42 × 10-3). A higher frequency of the PDCD1/rs7421861 A allele (Pc = 4.85 × 10-3) was observed in PIU patients as compared with controls. Stratification analysis showed a positive association of band keratopathy with the PDCD1/rs7565639 CT genotype (Pc = 1.05 × 10-2) and a negative association of this parameter with the PDCD1/rs7565639 C allele (Pc = 3.76 × 10-2).CONCLUSIONS: This study revealed that rs6710479 and rs7421861 in the PDCD1 gene confer susceptibility to PIU in Han Chinese. A stratified analysis showed that PDCD1/rs7565639 is associated with band keratopathy in PIU patients.

KW - NF-KAPPA-B

KW - SINGLE NUCLEOTIDE POLYMORPHISMS

KW - SYSTEMIC-LUPUS-ERYTHEMATOSUS

KW - EXPRESSION

KW - PD-1

KW - SUSCEPTIBILITY

KW - MOLECULES

KW - DISEASE

KW - PROTEIN

KW - LYMPHOCYTES

U2 - 10.1038/s41390-019-0612-4

DO - 10.1038/s41390-019-0612-4

M3 - Article

C2 - 31618754

VL - 87

SP - 634

EP - 638

JO - Pediatric Research

JF - Pediatric Research

SN - 0031-3998

IS - 4

ER -