Common variants in the PARL and PINK1 genes increase the risk to leprosy in Han Chinese from South China
| Autor: | Guo-Dong Li, Heng Long, Yu-Ye Li, Deng-Feng Zhang, Xiu-Feng Yu, Yong-Gang Yao, Xiao-An Li, Dong Wang, Jia-Qi Feng |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Adult
Male 0301 basic medicine China Adolescent Genotype Single-nucleotide polymorphism PINK1 Polymorphism Single Nucleotide Article Mitochondrial Proteins Young Adult 03 medical and health sciences Asian People Gene Frequency Risk Factors Leprosy medicine Humans SNP Genetic Predisposition to Disease Child Mycobacterium leprae Allele frequency Aged Genetics Multidisciplinary biology PARL High-Throughput Nucleotide Sequencing Exons Middle Aged biology.organism_classification medicine.disease 030104 developmental biology Child Preschool Metalloproteases Protein Kinases |
| Zdroj: | Scientific Reports |
| ISSN: | 2045-2322 |
| DOI: | 10.1038/srep37086 |
| Popis: | Leprosy is a chronic infectious and neurological disease caused by Mycobacterium leprae, an unculturable pathogen with massive genomic decay and dependence on host metabolism. We hypothesized that mitochondrial genes PARL and PINK1 would confer risk to leprosy. Thirteen tag SNPs of PARL and PINK1 were analyzed in 3620 individuals with or without leprosy from China. We also sequenced the entire exons of PARL, PINK1 and PARK2 in 80 patients with a family history of leprosy by using the next generation sequencing technology (NGS). We found that PARL SNP rs12631031 conferred a risk to leprosy (Padjusted = 0.019) and multibacillary leprosy (MB, Padjusted = 0.020) at the allelic level. rs12631031 and rs7653061 in PARL were associated with leprosy and MB (dominant model, Padjusted PINK1 SNP rs4704 was associated with leprosy at the genotypic level (Padjusted = 0.004). We confirmed that common variants in PARL and PINK1 were associated with leprosy in patients underwent NGS. Furthermore, PARL and PINK1 could physically interact with each other and were involved in the highly connected network formed by reported leprosy susceptibility genes. Together, our results showed that PARL and PINK1 genetic variants are associated with leprosy. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|