Introduction: The longevity-related
mitochondrial 5187A polymorphism is found
among 40% of mainland Japanese (J.
Epidemiol. 10 Suppl:S46, 2000). Phylogenic
analysis of East Asians suggests that
approximately 65% of the gene pool in
mainland Japanese was derived from the
continental gene flow after the Yayoi age,
while that in Okinawans is distinct (Horai S et
al. Am. J. Hum. Genet. 59: 579, 1996). Thus,
genes of Chinese and Okinawans were
analyzed. Methods : Polymorphisms at 3010A,
4386T, 5178A, 8794C, 10398G, and 9bp deletion
and clinical parameters were analyzed in both
Okinawans (50 males and 50 females) and
Chinese (192 males and 194 females).

The frequency of single nucleotide polymorphism
at 5178A was correlated (p<0.01) with those
at 8794C and 10398G in both ethnic groups,
but was not correlated with longevity because
of the narrow age range surveyed. The
frequency of 9bp deletion (Polynesian marker)
in Okinawan was 5 fold more than that in

Chinese. HDL-cholesterol (p<0.05) and
triglyceride (p<0.01) were correlated with
4386T polymorphism in Okinawan but not in
Chinese whose triglyceride level was higher
than the standard limit (150 mg/dl).
About 50% of Chinese surveyed were
Moslems, but they were similar to other
Chinese in both the polymorphism and clinical
parameters.
Conclusion: The longevity-related mitochondrial
genotype 5178A among East Asians comprises a
haplogroup with those at 8794C and 10398G,
which is rare among Caucasians. Although the
life expectancy in Okinawa is higher than that
in mainland Japan and China, 5178A was not
frequent in Okinawa. Anti-atherogenic properties
of 5178A (Matsunaga, H. et al. Diabetes Care
24:500, 2001) were not evident, but polymorphism
at 4386T (Jomon Japanese specific) was correlated
with both HDL-cholesterol and triglyceride in
Okinawans, perhaps adapted to the diet since
the Jomon era.
 

Results: Frequencies of polymorphism and serum lipid levels (mg/dl)were as follows:

Age(yr.)

HDL-C

triglyceride

9bp (del)

3010A

4386T

5178A

8794C

10398G

Chinese

60

+
-

6.3

57

+
-

11

180

+
-

146

18%

23%

99%

30%

93%

62%

Okinawan

65

+
-

7.0

59

+
-

13

120

+
-

57

94%

32%

76%

33%

85%

71%