PPARGC1B gene is associated with Kashin-Beck disease in Han Chinese.
Kashin-Beck disease (KBD) is a chronic osteochondropathy. The genetic basis of KBD remains elusive now. To investigate the relationship between PPARGC1B gene polymorphism and KBD, we conducted a two-stage association study using 2743 unrelated Han Chinese subjects. In the first stage, three SNPs rs1078324, rs4705372, and rs11743128 of PPARGC1B gene were genotyped in 559 KBD patients and 467 health controls using Sequenom MassARRAY platform. In the second stage, the association analysis results of PPARGC1B with KBD were replicated using an independent sample of 1717 subjects. SNP association analysis was conducted by PLINK software. Genotype imputation was conducted by IMPUTE 2.0 against the reference panel of the 1000 genome project. Bonferroni multiple testing correction was performed. We observed a significant association signal at rs4705372 (P = 0.0160) and a suggestive association signal at rs11743128 (P = 0.0290). Further replication study confirmed the association signals of rs4705372 (P = 0.0026) and rs11743128 (P = 0.0387) in the independent validation sample. Our study results suggest that PPARGC1B is a novel susceptibility gene of KBD.
Key Laboratory of Trace Elements and Endemic Diseases of National Health and Family Planning Commission, School of Public Health, Health Science Center, Xi'an Jiaotong University, Xi'an, People's Republic of China.
Yan
Y
Wen
Key Laboratory of Trace Elements and Endemic Diseases of National Health and Family Planning Commission, School of Public Health, Health Science Center, Xi'an Jiaotong University, Xi'an, People's Republic of China.
Jingcan
J
Hao
Key Laboratory of Trace Elements and Endemic Diseases of National Health and Family Planning Commission, School of Public Health, Health Science Center, Xi'an Jiaotong University, Xi'an, People's Republic of China.
Xiao
X
Xiao
Key Laboratory of Trace Elements and Endemic Diseases of National Health and Family Planning Commission, School of Public Health, Health Science Center, Xi'an Jiaotong University, Xi'an, People's Republic of China.
Wenyu
W
Wang
Key Laboratory of Trace Elements and Endemic Diseases of National Health and Family Planning Commission, School of Public Health, Health Science Center, Xi'an Jiaotong University, Xi'an, People's Republic of China.
Xiong
X
Guo
Department of Nephrology and Traditional Chinese Medicine, The People's Liberating Army 451 Hospital, Xi'an, People's Republic of China.
Weimin
W
Lin
Key Laboratory of Biomedical Information Engineering of Ministry of Education, and Institute of Molecular Genetics, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, People's Republic of China.
Tielin
T
Yang
Key Laboratory of Biomedical Information Engineering of Ministry of Education, and Institute of Molecular Genetics, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, People's Republic of China.
Xiaogang
X
Liu
Department of Biostatistics and Bioinformatics, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, USA.|Center for Bioinformatics and Genomics, Tulane University, New Orleans, LA, USA.
Hui
H
Shen
Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha, People's Republic of China.
Lijun
L
Tan
Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha, People's Republic of China.
Xiangding
X
Chen
Department of Biostatistics and Bioinformatics, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, USA.|Center for Bioinformatics and Genomics, Tulane University, New Orleans, LA, USA.
Qing
Q
Tian
Department of Biostatistics and Bioinformatics, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, USA.|Center for Bioinformatics and Genomics, Tulane University, New Orleans, LA, USA.
Hong-Wen
HW
Deng
Key Laboratory of Trace Elements and Endemic Diseases of National Health and Family Planning Commission, School of Public Health, Health Science Center, Xi'an Jiaotong University, Xi'an, People's Republic of China. fzhxjtu@mail.xjtu.edu.cn.
Feng
F
Zhang
D000328:Adult; D000483:Alleles; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D057767:Kashin-Beck Disease / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D016601:RNA-Binding Proteins
D002352:Carrier Proteins; C455622:PPARGC1B protein, human; D016601:RNA-Binding Proteins
Association analysis; Imputation study; Kashin-Beck disease; PPARGC1B