Distribution of apolioprotein E allele frequencies of the Han Chinese in an iodine-deficient mountainous area.

J. Gao, F. Zhang, T. Guo, X. Gao, S. Duan, H. Wang, Z. Zheng, T. Huang, G. Feng, David Malcolm St Clair, L. He

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Background: Iodine deficiency is common in the Qinba mountainous area and fetal iodine deficiency disorder (FIDD) is endemic. Our previous study demonstrated that apolipoprotein E (ApoE) was a genetic risk factor for FIDD in the local area.

Aim: In order to achieve a better understanding of the aetiology of iodine deficiency-based mental retardation in the Qinba mountainous area, we conducted further studies of ApoE allele frequencies obtained from the local population.

Subjects and methods: A total of 818 samples from four counties in the iodine-deficient area were recruited for the study of the ApoE genotype and allele frequencies using the PCR-RFLP method, and were subsequently confirmed by sequencing. Results: The frequencies of epsilon2, epsilon3 and epsilon4 alleles of Han Chinese in Qinba were 9.67%, 81.30% and 9.03%, respectively. Furthermore, no significant differences in the distribution of ApoE (either genotype or allele frequencies) between any two subgroups divided according to location, sex and age (p > 0.05) were found. Surprisingly, however, we found a significant difference in the genotype and allele frequencies between Qinba and Shanghai (genotype: chi(2) = 14.91, p = 0.0096; allele: chi(2) = 15.07, p = 0.0009).

Conclusion: The currently documented allele frequencies of ApoE in the Han Chinese population living in the open areas of China do not represent the distribution in the isolated Qinba mountainous area. The higher level of epsilon2 and epsilon4 allele frequencies in the Han Chinese living in the isolated Qinba area arise by chance or may result from genetic adaptation to an environment characterized by malnutrition and iodine deficiency, which may also contribute to the high incidence of mental retardation in these regions.

Original languageEnglish
Pages (from-to)578-585
Number of pages7
JournalAnnals of Human Biology
Volume31
DOIs
Publication statusPublished - 2004

Keywords

  • THYROXINE-BINDING
  • E GENOTYPE
  • DISEASE
  • AGE
  • MODULATION
  • EXPRESSION
  • ETHNICITY
  • DOMAIN
  • SITE
  • APOE

Cite this

Distribution of apolioprotein E allele frequencies of the Han Chinese in an iodine-deficient mountainous area. / Gao, J.; Zhang, F.; Guo, T.; Gao, X.; Duan, S.; Wang, H.; Zheng, Z.; Huang, T.; Feng, G.; St Clair, David Malcolm; He, L.

In: Annals of Human Biology, Vol. 31, 2004, p. 578-585.

Research output: Contribution to journalArticle

Gao, J. ; Zhang, F. ; Guo, T. ; Gao, X. ; Duan, S. ; Wang, H. ; Zheng, Z. ; Huang, T. ; Feng, G. ; St Clair, David Malcolm ; He, L. / Distribution of apolioprotein E allele frequencies of the Han Chinese in an iodine-deficient mountainous area. In: Annals of Human Biology. 2004 ; Vol. 31. pp. 578-585.
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title = "Distribution of apolioprotein E allele frequencies of the Han Chinese in an iodine-deficient mountainous area.",
abstract = "Background: Iodine deficiency is common in the Qinba mountainous area and fetal iodine deficiency disorder (FIDD) is endemic. Our previous study demonstrated that apolipoprotein E (ApoE) was a genetic risk factor for FIDD in the local area.Aim: In order to achieve a better understanding of the aetiology of iodine deficiency-based mental retardation in the Qinba mountainous area, we conducted further studies of ApoE allele frequencies obtained from the local population.Subjects and methods: A total of 818 samples from four counties in the iodine-deficient area were recruited for the study of the ApoE genotype and allele frequencies using the PCR-RFLP method, and were subsequently confirmed by sequencing. Results: The frequencies of epsilon2, epsilon3 and epsilon4 alleles of Han Chinese in Qinba were 9.67{\%}, 81.30{\%} and 9.03{\%}, respectively. Furthermore, no significant differences in the distribution of ApoE (either genotype or allele frequencies) between any two subgroups divided according to location, sex and age (p > 0.05) were found. Surprisingly, however, we found a significant difference in the genotype and allele frequencies between Qinba and Shanghai (genotype: chi(2) = 14.91, p = 0.0096; allele: chi(2) = 15.07, p = 0.0009).Conclusion: The currently documented allele frequencies of ApoE in the Han Chinese population living in the open areas of China do not represent the distribution in the isolated Qinba mountainous area. The higher level of epsilon2 and epsilon4 allele frequencies in the Han Chinese living in the isolated Qinba area arise by chance or may result from genetic adaptation to an environment characterized by malnutrition and iodine deficiency, which may also contribute to the high incidence of mental retardation in these regions.",
keywords = "THYROXINE-BINDING, E GENOTYPE, DISEASE, AGE, MODULATION, EXPRESSION, ETHNICITY, DOMAIN, SITE, APOE",
author = "J. Gao and F. Zhang and T. Guo and X. Gao and S. Duan and H. Wang and Z. Zheng and T. Huang and G. Feng and {St Clair}, {David Malcolm} and L. He",
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TY - JOUR

T1 - Distribution of apolioprotein E allele frequencies of the Han Chinese in an iodine-deficient mountainous area.

AU - Gao, J.

AU - Zhang, F.

AU - Guo, T.

AU - Gao, X.

AU - Duan, S.

AU - Wang, H.

AU - Zheng, Z.

AU - Huang, T.

AU - Feng, G.

AU - St Clair, David Malcolm

AU - He, L.

PY - 2004

Y1 - 2004

N2 - Background: Iodine deficiency is common in the Qinba mountainous area and fetal iodine deficiency disorder (FIDD) is endemic. Our previous study demonstrated that apolipoprotein E (ApoE) was a genetic risk factor for FIDD in the local area.Aim: In order to achieve a better understanding of the aetiology of iodine deficiency-based mental retardation in the Qinba mountainous area, we conducted further studies of ApoE allele frequencies obtained from the local population.Subjects and methods: A total of 818 samples from four counties in the iodine-deficient area were recruited for the study of the ApoE genotype and allele frequencies using the PCR-RFLP method, and were subsequently confirmed by sequencing. Results: The frequencies of epsilon2, epsilon3 and epsilon4 alleles of Han Chinese in Qinba were 9.67%, 81.30% and 9.03%, respectively. Furthermore, no significant differences in the distribution of ApoE (either genotype or allele frequencies) between any two subgroups divided according to location, sex and age (p > 0.05) were found. Surprisingly, however, we found a significant difference in the genotype and allele frequencies between Qinba and Shanghai (genotype: chi(2) = 14.91, p = 0.0096; allele: chi(2) = 15.07, p = 0.0009).Conclusion: The currently documented allele frequencies of ApoE in the Han Chinese population living in the open areas of China do not represent the distribution in the isolated Qinba mountainous area. The higher level of epsilon2 and epsilon4 allele frequencies in the Han Chinese living in the isolated Qinba area arise by chance or may result from genetic adaptation to an environment characterized by malnutrition and iodine deficiency, which may also contribute to the high incidence of mental retardation in these regions.

AB - Background: Iodine deficiency is common in the Qinba mountainous area and fetal iodine deficiency disorder (FIDD) is endemic. Our previous study demonstrated that apolipoprotein E (ApoE) was a genetic risk factor for FIDD in the local area.Aim: In order to achieve a better understanding of the aetiology of iodine deficiency-based mental retardation in the Qinba mountainous area, we conducted further studies of ApoE allele frequencies obtained from the local population.Subjects and methods: A total of 818 samples from four counties in the iodine-deficient area were recruited for the study of the ApoE genotype and allele frequencies using the PCR-RFLP method, and were subsequently confirmed by sequencing. Results: The frequencies of epsilon2, epsilon3 and epsilon4 alleles of Han Chinese in Qinba were 9.67%, 81.30% and 9.03%, respectively. Furthermore, no significant differences in the distribution of ApoE (either genotype or allele frequencies) between any two subgroups divided according to location, sex and age (p > 0.05) were found. Surprisingly, however, we found a significant difference in the genotype and allele frequencies between Qinba and Shanghai (genotype: chi(2) = 14.91, p = 0.0096; allele: chi(2) = 15.07, p = 0.0009).Conclusion: The currently documented allele frequencies of ApoE in the Han Chinese population living in the open areas of China do not represent the distribution in the isolated Qinba mountainous area. The higher level of epsilon2 and epsilon4 allele frequencies in the Han Chinese living in the isolated Qinba area arise by chance or may result from genetic adaptation to an environment characterized by malnutrition and iodine deficiency, which may also contribute to the high incidence of mental retardation in these regions.

KW - THYROXINE-BINDING

KW - E GENOTYPE

KW - DISEASE

KW - AGE

KW - MODULATION

KW - EXPRESSION

KW - ETHNICITY

KW - DOMAIN

KW - SITE

KW - APOE

U2 - 10.1080/03014460400007203

DO - 10.1080/03014460400007203

M3 - Article

VL - 31

SP - 578

EP - 585

JO - Annals of Human Biology

JF - Annals of Human Biology

SN - 0301-4460

ER -