Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo‐optico‐neuropathy (SMON)

Molecular Genetics & Genomic Medicine

SMON research group members¹  Satoshi Kuru²  Makoto Minamiyama²  Norio Kawamoto³  Hideo Sasai³  Hideki Matsumoto³  Hidenori Ohnishi³  Toshiyuki Fukao³  Masato Katsuyama⁴ 

[1] ;Department of Neurology National Hospital Organization Suzuka National Hospital Mie Japan;Department of Pediatrics Gifu University Graduate School of Medicine Gifu University Gifu Japan;Radioisotope Center Kyoto Prefectural University of Medicine Kyoto Japan;

关键词: ABCC11;    ABCC4;    clioquinol;    Japanese;    subacute myelo‐optico‐neuropathy;   

DOI  :  10.1002/mgg3.1845

来源: DOAJ

【 摘 要 】

Abstract Background Subacute myelo‐optico‐neuropathy (SMON) is a severe neurological disorder associated with clioquinol administration, which frequently occurred in Japan during the 1950s and 1960s. The unique genetic background of the Japanese population is considered to be strongly involved in the development of this neurological disease. Recently, genetic variants of ABCC4 (OMIM: 605250) and ABCC11 (OMIM: 607040), which are particularly common in the Japanese population, were suggested as possible genetic susceptibility factors for the development of SMON. Methods We analyzed 125 Japanese SMON patients who provided consent for this study. Patient DNA was collected from peripheral blood, and genetic analysis was performed for ABCC4 rs3765534 (c.2268G>A, p.Glu857Lys) and ABCC11 rs17822931 (c.538G>A, p.Gly180Arg) polymorphisms using the Sanger sequencing method and/or TaqMan PCR method. The frequency distribution of each polymorphism was compared with that in healthy Japanese people recorded in two genomic databases (Human Genomic Variation Database and Integrative Japanese Genome Variation Database), and each genotype was compared with the clinical features of patients. Results The frequencies of ABCC4 rs3765334 and ABCC11 rs17822931 polymorphisms in SMON patients and healthy Japanese people were not significantly different in the multifaceted analysis. Conclusion We conclude that the ABCC4 rs3765334 and ABCC11 rs17822931 polymorphisms are not associated with the development of SMON.

【 授权许可】

Unknown