Distribution of apolipoprotein e allele frequencies of the Han Chinese in an iodine-deficient mountainous area

Jianjun Gao, Fuchang Zhang, Tingwei Guo, Xiaocai Gao, Shiwei Duan, Hongyan Wang, Zijian Zheng, Tiezhu Huang, Guoyin Feng, D. St Clair, Lin 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 ε2, ε3 and ε4 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: χ2 = 14.91, p = 0.0096; allele: χ2 = 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 ε2 and ε4 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 (US)
Pages (from-to)578-585
Number of pages8
JournalAnnals of Human Biology
Volume31
Issue number5
DOIs
StatePublished - Sep 2004
Externally publishedYes

Fingerprint

apolipoproteins
Apolipoproteins
iodine deficiency
apolipoprotein E
iodine
Gene Frequency
Iodine
Apolipoproteins E
gene frequency
Genotype
deficiency diseases
Congenital Hypothyroidism
genotype
Intellectual Disability
Alleles
alleles
China
Malnutrition
Restriction Fragment Length Polymorphisms
malnutrition

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Public Health, Environmental and Occupational Health

Cite this

Distribution of apolipoprotein e allele frequencies of the Han Chinese in an iodine-deficient mountainous area. / Gao, Jianjun; Zhang, Fuchang; Guo, Tingwei; Gao, Xiaocai; Duan, Shiwei; Wang, Hongyan; Zheng, Zijian; Huang, Tiezhu; Feng, Guoyin; Clair, D. St; He, Lin.

In: Annals of Human Biology, Vol. 31, No. 5, 09.2004, 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, Clair, DS & He, L 2004, 'Distribution of apolipoprotein e allele frequencies of the Han Chinese in an iodine-deficient mountainous area', Annals of Human Biology, vol. 31, no. 5, pp. 578-585. https://doi.org/10.1080/03014460400007203
Gao, Jianjun ; Zhang, Fuchang ; Guo, Tingwei ; Gao, Xiaocai ; Duan, Shiwei ; Wang, Hongyan ; Zheng, Zijian ; Huang, Tiezhu ; Feng, Guoyin ; Clair, D. St ; He, Lin. / Distribution of apolipoprotein e allele frequencies of the Han Chinese in an iodine-deficient mountainous area. In: Annals of Human Biology. 2004 ; Vol. 31, No. 5. pp. 578-585.
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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 ε2, ε3 and ε4 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: χ2 = 14.91, p = 0.0096; allele: χ2 = 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 ε2 and ε4 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.",
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T1 - Distribution of apolipoprotein e allele frequencies of the Han Chinese in an iodine-deficient mountainous area

AU - Gao, Jianjun

AU - Zhang, Fuchang

AU - Guo, Tingwei

AU - Gao, Xiaocai

AU - Duan, Shiwei

AU - Wang, Hongyan

AU - Zheng, Zijian

AU - Huang, Tiezhu

AU - Feng, Guoyin

AU - Clair, D. St

AU - He, Lin

PY - 2004/9

Y1 - 2004/9

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 ε2, ε3 and ε4 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: χ2 = 14.91, p = 0.0096; allele: χ2 = 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 ε2 and ε4 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 ε2, ε3 and ε4 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: χ2 = 14.91, p = 0.0096; allele: χ2 = 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 ε2 and ε4 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.

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