Association analysis of NUCKS1 and INPP5K polymorphism with Parkinson’s disease

• Published in: Genes & Genetic Systems Vol. 93; no. 2; pp. 59 - 64
• Main Authors: Adnan, Atif, Xu, Qin, Luo, Xiaoguang, Yu, Peifu, Zhang, Siyi, Huo, Zhixin, Zhu, Wenqing, Pang, Hao
• Format: Journal Article
• Language: English
• Published: Japan The Genetics Society of Japan 01.04.2018; Japan Science and Technology Agency
• Subjects: Aged; Alleles; Asian Continental Ancestry Group - genetics; association; Association analysis; Case-Control Studies; China; Ethnic Groups - genetics; Female; Gene Frequency - genetics; Gene polymorphism; Genetic Association Studies; Genetic Predisposition to Disease - genetics; Genome-wide association studies; Genome-Wide Association Study - methods; Genomes; Humans; INPP5K; Male; Middle Aged; Movement disorders; Neurodegenerative diseases; NUCKS1; Nuclear Proteins - genetics; Nuclear Proteins - metabolism; Parkinson Disease - genetics; Parkinson Disease - physiopathology; Parkinson's disease; Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases - genetics; Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases - metabolism; Phosphoproteins - genetics; Phosphoproteins - metabolism; Polymerase chain reaction; Polymorphism; Polymorphism, Single Nucleotide - genetics; Restriction fragment length polymorphism; Risk Factors; Single-nucleotide polymorphism; China; INPP5K; association; NUCKS1; single nucleotide polymorphism; Parkinson’s disease
• ISSN: 1341-7568; 1880-5779; 1880-5779
• DOI: 10.1266/ggs.17-00038

Genome-wide association studies have reported numerous candidate loci associated with Parkinson’s disease (PD). NUCKS1 and INPP5K are two such candidate loci, although they have rarely been reported in Asian populations. To explore these potential genes for PD susceptibility, we investigated the association between PD and two SNPs, rs823114 and rs1109303, located on the NUCKS1 and INPP5K genes, respectively, in the Han population of northern China. We genotyped the two SNPs using the multiplex PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) technique. A total of 685 subjects including 322 sporadic PD patients and 363 healthy controls were recruited from the population. After Bonferroni correction, our results suggested that there was a significant association of a minor allele (G) in rs823114 with reduced risk of PD development (P = 0.017, OR = 0.768, 95%CI = 0.618 − 0.955), and the difference in genotypes between the PD patients and healthy controls was significant under the dominant model (GA + GG vs. AA). After stratification by gender, males had a lower risk than females (P = 0.008, OR = 0.666, 95%CI = 0.495 − 0.898). However, the distribution of genotype frequency exhibited no significant differences between the PD and control groups (P > 0.025) in INPP5K rs1109303 (P = 0.048, OR = 0.806, 95%CI = 0.650 − 0.998). We conclude that NUCKS1 rs823114 indicates a decreased risk of susceptibility to PD and shows a male genetic distribution bias in the Han Chinese population.