Ali Khaligh1, Maryam Goudarzian1, Alireza Moslem2, Amirhosein Mehrtash3, Javad Jamshidi4, Hossein Darvish5, Babak Emamalizadeh6. 1. a Iranian Research Center of Healthy Aging , Sabzevar University of Medical Sciences , Sabzevar , Iran. 2. b Sabzevar University of Medical Sciences , Sabzevar , Iran. 3. c Molecular Medicine Department, Biotechnology Research Center , Pasteur Institute of Iran , Tehran , Iran. 4. d Noncommunicable Diseases Research Center , Fasa University of Medical Sciences , Fasa , Iran. 5. e Department of Medical Genetics, School of Medicine , Shahid Beheshti University of Medical Sciences , Tehran , Iran. 6. f Faculty of Medicine, Department of Medical Genetics , Tabriz University of Medical Sciences , Tabriz , Iran.
Abstract
INTRODUCTION: Recent genome-wide association studies have explored some new loci in association with Parkinson's disease (PD). RAB7L1 is an important gene involved in one of the important neurological pathways, located in PARK16 locus. We performed a case-control study to examine the association between rs823144 SNP located in the promoter region of the RAB7L1 gene and PD risk in Iranian population. METHODS: A total of 960 samples including 480 PD patients and 480 healthy controls were collected for analysis of the RAB7L1 rs823144 polymorphism using polymerase chain reaction-restriction fragment length polymorphism (PCR - RFLP) method. RESULTS: We found significant differences in genotypic and allelic frequencies between patients and controls. Significant association was found between presence of minor allele (C) and decreased risk of PD development (p = 0.008, OR = 0.74 (0.605-0.924)). Also another significant association was observed between the CC genotype and PD (p = 0.004, OR = 0.441 (0.252-0.772)). CONCLUSION: Our data support the association between rs823144 and decreased risk of PD.
INTRODUCTION: Recent genome-wide association studies have explored some new loci in association with Parkinson's disease (PD). RAB7L1 is an important gene involved in one of the important neurological pathways, located in PARK16 locus. We performed a case-control study to examine the association between rs823144 SNP located in the promoter region of the RAB7L1 gene and PD risk in Iranian population. METHODS: A total of 960 samples including 480 PDpatients and 480 healthy controls were collected for analysis of the RAB7L1rs823144 polymorphism using polymerase chain reaction-restriction fragment length polymorphism (PCR - RFLP) method. RESULTS: We found significant differences in genotypic and allelic frequencies between patients and controls. Significant association was found between presence of minor allele (C) and decreased risk of PD development (p = 0.008, OR = 0.74 (0.605-0.924)). Also another significant association was observed between the CC genotype and PD (p = 0.004, OR = 0.441 (0.252-0.772)). CONCLUSION: Our data support the association between rs823144 and decreased risk of PD.
Authors: Vidya Chidambaran; Xue Zhang; Valentina Pilipenko; Xiaoting Chen; Benjamin Wronowski; Kristie Geisler; Lisa J Martin; Artem Barski; Matthew T Weirauch; Hong Ji Journal: Epigenomics Date: 2021-04-06 Impact factor: 4.778