title: Association analysis of STK39, MCCC1/LAMP3 and sporadic PD in the Chinese Han population.
abstract: With the completion of the Human Genome Project, GWAS have been widely used in exploring the genetic studies of complex diseases. A meta-analysis of datasets from five Parkinson's disease GWAS from the USA and Europe found 11 loci that surpassed the threshold for genome-wide significance (p<5×10(-8)), and five were newly identified loci (ACMSD, STK39, MCCC1/LAMP3, SYT11 and CCDC62/HIP1R). Another GWAS of the Ashkenazi Jewish population also identified loci in STK39 and LAMP3. Because the association between the STK39 and MCCC1/LAMP3 genes and PD was confirmed in different populations, we conducted a case-control cohort to clarify the association between the four single nucleotide polymorphism (SNP) loci (rs2102808 and rs3754775 in the STK39; rs11711441 and rs12493050 in the MCCC1/LAMP3) and PD in the Chinese Han population. Polymerase chain reaction and direct DNA sequencing analyses were used to detect the four variations in a case-control cohort comprised of 993 ethnic Chinese subjects. We found that in the detection of the rs11711441, there was a significant difference between ungrouped populations, early-onset PD, late-onset PD, male PD, female PD and the corresponding control group in allele and genotype frequency (p<0.001, OR<1). In the detection of the rs2102808, rs3754775 and rs12493050, ungrouped populations, early-onset PD, late-onset PD, male PD or female PD with the corresponding control group showed no significant difference in allele and genotype frequency (p>0.0125). Our findings suggested that the allele G of rs11711441 of the MCCC1/LAMP3 gene can decrease the risk of PD in Chinese population. No statistically significant difference in genotype frequency between cases and controls was observed for the other three SNPs.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, People's Republic of China.
authors.forename: Ya-qin
authors.initials: YQ
authors.lastname: Wang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, People's Republic of China; State Key Laboratory of Medical Genetics, Changsha 410008, Hunan, People's Republic of China; Human Key Laboratory of Neurodegenerative Disorders, Central South University, Changsha 410008, Hunan, People's Republic of China; Neurodegenerative Disorders Research Center, Central South University, Changsha 410008, Hunan, People's Republic of China.
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, People's Republic of China.
authors.forename: Ri-li
authors.initials: RL
authors.lastname: Yu
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, People's Republic of China.
authors.forename: Kai
authors.initials: K
authors.lastname: Li
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, People's Republic of China.
authors.forename: Zhen-hua
authors.initials: ZH
authors.lastname: Liu
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, People's Republic of China; Human Key Laboratory of Neurodegenerative Disorders, Central South University, Changsha 410008, Hunan, People's Republic of China; Neurodegenerative Disorders Research Center, Central South University, Changsha 410008, Hunan, People's Republic of China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Xu
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, People's Republic of China; Human Key Laboratory of Neurodegenerative Disorders, Central South University, Changsha 410008, Hunan, People's Republic of China.
authors.forename: Qi-ying
authors.initials: QY
authors.lastname: Sun
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, People's Republic of China; Human Key Laboratory of Neurodegenerative Disorders, Central South University, Changsha 410008, Hunan, People's Republic of China.
authors.forename: Xin-xiang
authors.initials: XX
authors.lastname: Yan
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, People's Republic of China; State Key Laboratory of Medical Genetics, Changsha 410008, Hunan, People's Republic of China; Human Key Laboratory of Neurodegenerative Disorders, Central South University, Changsha 410008, Hunan, People's Republic of China; Neurodegenerative Disorders Research Center, Central South University, Changsha 410008, Hunan, People's Republic of China. Electronic address: guojifeng2003@163.com.
authors.forename: Ji-feng
authors.initials: JF
authors.lastname: Guo
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People; D016022:Case-Control Studies; D002681:China; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D051907:Lysosomal Membrane Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000208:ethnology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D059666:Lysosomal-Associated Membrane Protein 3
chemical_list: D051907:Lysosomal Membrane Proteins; D009363:Neoplasm Proteins; D017346:Protein Serine-Threonine Kinases; C114233:LAMP3 protein, human; D059666:Lysosomal-Associated Membrane Protein 3; C486409:STK39 protein, human
keywords: GWAS; Parkinson's disease; SNP