title: Genetic analysis of the leucine-rich repeat and lg domain containing Nogo receptor-interacting protein 1 gene in essential tremor.
abstract: Variants in the leucine-rich repeat and lg domain containing nogo receptor-interacting protein 1 gene (LINGO1) have been identified to be associated with the increased risk of essential tremor (ET), especially among Caucasians. To explore whether the LINGO1 gene plays a role in ET susceptibility, we performed a systematic genetic analysis of the coding region in the LINGO1 gene. Four nucleotide variants have been genotyped, including three known variants (rs2271398, rs2271397, and rs3743481), and a novel G → C transition (ss491228439). Extended analysis showed no significant difference in genotypic and allelic distributions between 151 patients and 301 control subjects for these four variants (all P > 0.05). However, further sex-stratified analysis revealed that the C allele of rs2271397 and ss491228439 contributed the risk of ET in female (P = 0.017, OR = 2.139, 95 % CI 1.135 ~ 4.030 for rs2271397 and P = 0.038, OR = 1.812, 95 % CI 1.027 ~ 3.194 for ss491228439). Haplotype analysis indicated that A465-C474-C714 haplotype was significantly associated with increased risk of ET in female (P = 0.041, OR = 1.800, 95 % CI 1.020 ~ 3.178). Our results indicate that the LINGO1 variants are associated with ET in Chinese Han female patients.
authors.affiliation: Center for Experimental Medicine, Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha, Hunan, 410013, People's Republic of China.
authors.forename: Hui
authors.initials: H
authors.lastname: Liang
authors.forename: Zhi
authors.initials: Z
authors.lastname: Song
authors.forename: Xiong
authors.initials: X
authors.lastname: Deng
authors.forename: Hongbo
authors.initials: H
authors.lastname: Xu
authors.forename: Anding
authors.initials: A
authors.lastname: Zhu
authors.forename: Wen
authors.initials: W
authors.lastname: Zheng
authors.forename: Yongxiang
authors.initials: Y
authors.lastname: Zhao
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002681:China; D020329:Essential Tremor / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016366:Open Reading Frames; D020641:Polymorphism, Single Nucleotide; D012737:Sex Factors
chemical_list: C482293:LINGO1 protein, human; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins