検査法の開発と病態解明へのアプローチ(3)

連関解析における SNPs の有用性：
高血圧におけるミトコンドリア DNA 多型の意義

庄　司　　　優*1　蔦　谷　昭　司*2
葛　西　　　猛*3　保　嶋　　　実*4
　　　　　　　　　　　　　　　　　　　　　　
Implication of Single Nucleotide Polymorphisms in Association Study：
Mitochondrial Variations as Another Genetic Markers for Hypertension

Masaru SHOJI, MD*1, Shoji TSUTAYA*2
Takeshi KASAI*3 and Minoru YASUJIMA, MD*4

Although multiple nuclear gene polymorphisms have been identified as potential risk factors for hypertension, the linkage between extranuclear DNA variations and hypertension has been uncertain. We investigated whether mitochondrial DNA(mtDNA) polymorphisms are implicated in Japanese hypertension. We used direct sequencing methods to search for single nucleotide polymorphisms(SNPs) in a hypervariable segment of the mitochondrial control region in each blood sample from 20 hypertensives and 20 normotensives. Then, we determined the distribution of two SNPs, T16223C and C16362T, in 183 hypertensives and 193 healthy subjects in the Aomori population in the northern area of Honshu island of Japan. The relationship between the gene polymorphism and hypertension was evaluated using chi-square test. Seventy SNPs were found there and the number of SNPs in each individual was significantly greater(p＝0.0111) in hypertensives than in normotensives. The C16223 genotype was more frequent in hypertensives than in normotensives(p＝0.0018). There was no significant difference in C16362T variant frequency between the groups. From these results, we conclude that mtDNA SNPs were enriched in Japanese hypertension and that the mtDNA C16223 genotype may be one of the genetic susceptibility factors for hypertension.
[Rinsho Byori 50 : 497〜501, 2002]

*1Department of Laboratory Medicine, Hirosaki University School of Medicine, Hirosaki 036-8562

【Key Words】hypertension(高血圧)，mitochondria(ミトコンドリア)，gene polymorphism(遺伝子多型)，SNP(一塩基多型)，association(連関)

*1,4弘前大学医学部臨床検査医学，*2,3同　附属病院検査部(〒036-8562 弘前市在府町5)

E-mail :msji@cc.hirosaki-u.ac.jp