title: No association between the SNPs (rs3749446 and rs1402000) in the PARL gene and LHON in Chinese patients with m.11778G>A.
abstract: According to a recent genome-wide linkage scan and association study of families with m.11778G>A in Thailand, two single nucleotide polymorphisms (SNPs) (rs3749446 and rs1402000) in the presenilins-associated rhomboid-like (PARL) gene were found to be associated with Leber hereditary optic neuropathy (LHON). In order to verify this association in Chinese LHON patients, we genotyped three PARL gene variants (rs3749446, rs953419, and rs1402000) in 179 patients with m.11778G>A and 170 patients with suspected LHON, and compared them to a control population containing the HapMap Chinese and 58 normal individuals analyzed in this study. We identified no association between these PARL gene SNPs and LHON in Chinese patients with m.11778G>A (P>0.05). Haplotype analysis also showed no statistical difference among the three Chinese populations.
authors: Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, 650223, China.
authors: A-Mei
authors: AM
authors: Zhang
authors: Xiaoyun
authors: X
authors: Jia
authors: Qingjiong
authors: Q
authors: Zhang
authors: Yong-Gang
authors: YG
authors: Yao
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D002681:China; D004272:DNA, Mitochondrial / Q000235:genetics; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D045726:Metalloproteases / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000208:ethnology / Q000235:genetics*; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; D045726:Metalloproteases; C485223:PARL protein, human