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1.
J Hum Genet ; 62(9): 847-849, 2017 Sep.
Article in English | MEDLINE | ID: mdl-28405013

ABSTRACT

It has been suggested that a 'thrifty' genotype hypothesis can account for high prevalence of obesity in the island populations of Oceania. A recent genome-wide association study revealed that a missense variant, rs373863828-A (p.Arg457Gln), of the CREBRF gene (encoding CREB3 regulatory factor) was associated with an excessive increase in body mass index (BMI) in Samoans. In the present study, the association of rs373863828-A with an increase in BMI was examined in four Austronesian (AN)-speaking populations in Oceania. We found that rs373863828-A was frequently observed (frequency of 0.15) in Tongans (Polynesians), and was strongly associated with higher BMI (P=6.1 × 10-4). A single copy of the rs373863828-A allele increased BMI by 3.09 kg m-2 after adjustment of age and sex. No significant association was detected in the other three AN-speaking populations (Melanesians and Micronesians) living in Solomon Islands. This was probably due to the low allele frequency (0.02-0.06) of rs373863828-A as well as small sample size. The rs373863828-A allele was not found in both AN-speaking and non-AN-speaking Melanesians living in Papua New Guinea. Our results suggest that rs373863828-A of CREBRF, a promising thrifty variant, arose in recent ancestors of AN-speaking Polynesians.


Subject(s)
Alleles , Body Mass Index , Genetics, Population , Mutation, Missense , Native Hawaiian or Other Pacific Islander/genetics , Quantitative Trait, Heritable , Tumor Suppressor Proteins/genetics , Amino Acid Substitution , Female , Gene Frequency , Genotype , Geography , Humans , Male , Obesity/genetics , Oceania , Polymorphism, Single Nucleotide
2.
J Hum Genet ; 58(3): 142-9, 2013 Mar.
Article in English | MEDLINE | ID: mdl-23324949

ABSTRACT

Human essential hypertension is partly caused by genetic factors. Angiotensinogen (AGT), G-protein ß3-subunit (GNB3) and cytochrome P450 3A5 (CYP3A5) are candidate hypertension susceptibility genes and risk alleles at these loci have been thought to arise owing to human adaptation to climatic changes following the migration out-of-Africa. This study aimed to reveal the frequencies of hypertension-susceptibility genotypes in Pacific Island populations and associations of these single-nucleotide polymorphisms (SNPs) to hypertension. Genotyping was conducted for 804 individuals from Melanesian, Micronesian and Polynesian populations at SNPs in the genes encoding AGT (rs699, rs5049 and rs5051), GNB3 (rs5443) and CYP3A5*1/*3 (rs776746). Associations between these SNPs and hypertension were tested for 383 Melanesian Solomon Islanders. We found that the A/A genotype at rs5049 was a risk factor for hypertension (P=0.025) in the Melanesian Solomon Islanders; three SNPs for AGT were in linkage disequilibrium. The ancestral alleles of rs699, rs5051 and rs776746, and the derived allele of rs5443 were as frequent in the populations surveyed here as in other equatorial populations. Although other polymorphisms associated with hypertension and additional populations remain to be studied, these findings suggest that the Pacific Islanders' susceptibility to hypertension arose because of human migration and adaptation.


Subject(s)
Angiotensinogen/genetics , Genetic Association Studies , Genetic Predisposition to Disease , Hypertension/epidemiology , Hypertension/genetics , Adolescent , Adult , Aged , Alleles , Cytochrome P-450 CYP3A/genetics , Cytochrome P-450 CYP3A/metabolism , Female , Gene Frequency , Genetics, Population , Heterotrimeric GTP-Binding Proteins/genetics , Heterotrimeric GTP-Binding Proteins/metabolism , Human Migration , Humans , Linkage Disequilibrium , Male , Melanesia/epidemiology , Middle Aged , Pacific Islands/epidemiology , Polymorphism, Single Nucleotide , Prevalence , Risk Factors , Young Adult
3.
Trop Med Health ; 39(4): 109-17, 2011 Dec.
Article in English | MEDLINE | ID: mdl-22438700

ABSTRACT

A community-based cross-sectional survey of 262 participants in four island communities of Manus, Papua New Guinea was conducted using a structured questionnaire to examine possible factors of malaria prevalence, including education experiences, knowledge, attitudes, and preventive behaviors, in relation to antimalarial antibody titers. Bivariate and multivariate analyses revealed that micro-environmental conditions caused inter-community differences in malaria prevalence. Ninety-nine percent of the subject villagers recognized mosquito bites as a cause of malaria transmission, which explains the high possession rate of bednets. There was a significant correlation between malaria education experience at schools and knowledge (p < 0.01) and between knowledge and bednet use (p < 0.05). However, regular bednet users were only 35% of the total, due primarily to feelings of discomfort, heat, and stuffiness inside the bednet. Villagers' behavior of consulting an aid post orderly (APO) in case of high fever significantly lowered the titer level (p < 0.05), while their bednet use did not. This unexpected result was attributable to inappropriate bednet use and to daily living patterns, including both subsistence and social activities. We conclude that information regarding lifestyles and attitudes toward bednet use as well as malaria education experience at schools are particularly important for practical malaria prevention.

4.
Hum Genet ; 127(3): 287-94, 2010 Mar.
Article in English | MEDLINE | ID: mdl-20183928

ABSTRACT

Various Pacific Island populations have experienced a marked increase in the prevalence of obesity in past decades. This study examined the association of a promoter polymorphism of the leptin gene (LEP), G-2548A (rs7799039), and two non-synonymous single nucleotide polymorphisms of the leptin receptor gene (LEPR), K109R (rs1137100) and Q223R (rs1137101), with body weight, body mass index (BMI) and obesity (BMI > or = 30) in Pacific Islanders. A total of 745 Austronesian (AN)-speaking participants were analyzed after adjusting for age, gender, and population differences. The results revealed that carriers of the 223Q alleles of LEPR had significantly higher body weight (P = 0.0009) and BMI (P = 0.0022) than non-carriers (i.e., 223R homozygotes); furthermore, the 223Q carriers also had a signiWcantly higher risk of obesity in comparison to non-carriers (P = 0.0222). The other two polymorphisms, G-2548A and K109R, were associated with neither body weight, BMI, nor obesity. The 223Q allele was widely found among the AN-speaking study subjects, thus suggesting that the LEPR Q223R polymorphism is one of the factors contributing to the high prevalence of obesity in the Pacific Island populations.


Subject(s)
Obesity/genetics , Polymorphism, Single Nucleotide , Receptors, Leptin/genetics , Adolescent , Adult , Aged , Amino Acid Substitution/genetics , Arginine/genetics , Female , Gene Frequency , Genetic Association Studies , Genetic Linkage , Genetics, Population , Glutamic Acid/genetics , Humans , Male , Middle Aged , Obesity/epidemiology , Pacific Islands/epidemiology , Polymorphism, Single Nucleotide/physiology , Prevalence , Young Adult
5.
J Hum Genet ; 52(12): 1031-1035, 2007.
Article in English | MEDLINE | ID: mdl-17928949

ABSTRACT

It has been suggested that Neel's "thrifty genotype" model may account for high body weights in some Oceanic populations, which presumably arose in modern times. In European populations, common variants (rs1421085-C, rs17817449-G, and rs9939609-A) in the fat mass and obesity (FTO associated) were recently found to be associated with body mass index (BMI) or obesity. In this study, we investigated the population frequencies of these variants in six Oceanic populations (Melanesians, Micronesians, and Polynesians) and tested for an association with BMI. Unlike European populations, the Oceanic populations displayed no significant association between the FTO polymorphisms and BMI. These variants were in strong linkage disequilibrium. The population frequencies ranged between 4.2 and 30.3% in the six Oceanic populations, and were similar to those in southeast and east Asian populations. Our study of the FTO polymorphisms has generated no evidence to support the thrifty genotype hypothesis for Oceanic populations.


Subject(s)
Adipose Tissue , Genetics, Population , Obesity/genetics , Polymorphism, Genetic , Proteins/genetics , Alpha-Ketoglutarate-Dependent Dioxygenase FTO , Black People/genetics , Body Mass Index , Humans , Linkage Disequilibrium , Models, Genetic , Pacific Islands , White People/genetics
6.
Am J Phys Anthropol ; 130(4): 551-6, 2006 Aug.
Article in English | MEDLINE | ID: mdl-16425188

ABSTRACT

Archaeological, linguistic, and genetic studies show that Austronesian (AN)-speaking Polynesian ancestors came from Asia/Taiwan to the Bismarck Archipelago in Near Oceania more than 3,600 years ago, and then expanded into Remote Oceania. However, it remains unclear whether they extensively mixed with indigenous Melanesians who had populated the Bismarck Archipelago before their arrival. To examine the extent of admixture between Polynesian ancestors and indigenous Melanesians, mitochondrial DNA (mtDNA) variations in the D-loop region and the cytochrome oxidase and lysine transfer RNA (COII/tRNA(Lys)) intergenic 9-bp deletion were analyzed in the following three Oceanian populations: 1) Balopa Islanders as AN-speaking Melanesians living in the northwestern end of the Bismarck Archipelago, 2) Tongans as AN-speaking Polynesians, and 3) Gidra as non-Austronesian-speaking Melanesians in the southwestern lowlands of Papua New Guinea. Phylogenetic analysis of mtDNA sequences revealed that more than 60% of mtDNA sequences in the Balopa Islanders were very similar to those in Tongans, suggesting an extensive gene flow from Polynesian ancestors to indigenous Melanesians. Furthermore, analysis of pairwise difference distributions for the D-loop sequences with the 9-bp deletion and the Polynesian motif (i.e., T16217C, A16247G, and C16261T) suggested that the expansion of Polynesian ancestors possessing these variations occurred approximately 7,000 years ago.


Subject(s)
Black People/genetics , DNA, Mitochondrial/chemistry , Gene Flow , Genetics, Population , Sequence Deletion/genetics , White People/genetics , Base Pairing/genetics , Base Sequence/genetics , Cluster Analysis , DNA, Mitochondrial/genetics , Electron Transport Complex IV/genetics , Female , Humans , Lysine/genetics , Male , Melanesia , Molecular Sequence Data , Phylogeny , Polymerase Chain Reaction , Polymorphism, Genetic/genetics , Polynesia , RNA, Transfer/genetics
7.
Indoor Air ; 14 Suppl 8: 51-64, 2004.
Article in English | MEDLINE | ID: mdl-15663460

ABSTRACT

UNLABELLED: In this paper, a method is developed to assess the performance of adsorptive building materials that are used for reducing indoor pollutant concentrations. Mass transfer has a great influence on the materials' performance. To control the mass transfer rate precisely in the performance test, the authors have developed the Boundary-Layer-Type Small Test Chamber in which airflow along the test materials can be controlled precisely. A new index of adsorption performance, the equivalent ventilation rate (Q(ads)), is defined that corresponds to the mass transfer coefficient when the surface pollutant concentration is zero. Modeling and experimental verification of adsorption were done, demonstrating the pollutant concentration decrease caused by adsorptive building materials. The pollutant reduction phenomena were modeled, including pollutant degradation by chemical reaction and adsorption in building materials. Adsorption tests of gypsum board containing a substance that decomposes HCHO within the board are reported. The adsorption rate of the gypsum board predicted by numerical analysis (CFD, Computational Fluid Dynamics) corresponds well with experimental results. PRACTICAL IMPLICATIONS: Development and verification of a method to measure the decrease in indoor pollutant concentration caused by an adsorptive building material are reported. Mass transfer has a great influence on the material's performance. The equivalent ventilation rate (Q(ads)) of the adsorption performance is defined as a new index that corresponds to the mass transfer coefficient. The equivalent ventilation rate (Q(ads)) can be used directly to compare the effect of pollutant concentration decrease via adsorption with the effect of ventilation.


Subject(s)
Air Pollution, Indoor/prevention & control , Construction Materials , Fixatives/isolation & purification , Formaldehyde/isolation & purification , Models, Theoretical , Adsorption , Fixatives/chemistry , Formaldehyde/chemistry , Materials Testing , Ventilation
8.
J Hum Genet ; 48(12): 642-645, 2003.
Article in English | MEDLINE | ID: mdl-14618418

ABSTRACT

Distribution of a 27-bp deletion in the band 3 gene (B3Delta27) that causes Southeast Asian/Melanesian ovalocytosis has scarcely been studied in remote insular Southeast Asia and New Guinea. Here the presence of the B3Delta27 was surveyed among a total of 756 subjects from the indigenous populations inhabiting New Guinean islands and remote insular Southeast Asia by using a polymerase chain reaction method. In remote insular Southeast Asia where Austronesian-speaking peoples inhabit, the B3Delta27 frequency ranged between 0.04 and 0.15. In New Guinea Island, hinterland or Papuan groups showed the absence of the B3Delta27 or a very low gene frequency (0.01 in the Gidra) of the B3Delta27. However, groups of the coastal regions (Asmat, Sorong, and others) and of the nearby islands (Biak and Manus) where Austronesian infiltration had occurred showed substantial frequencies of the deletion (0.02-0.09). It is likely that the B3Delta27 was introduced into this region about 3,500 years ago with the arrival of Austronesian-speaking peoples. Once being introduced, the B3Delta27 may have been selected because of its resistance against malaria, while founder effect and genetic drift might have occurred in the New Guinean tribes with small population size, which helped to generate a variety of the B3Delta27 frequencies.


Subject(s)
Anion Exchange Protein 1, Erythrocyte/genetics , Gene Deletion , Elliptocytosis, Hereditary/genetics , Founder Effect , Gene Frequency , Genetic Drift , Genetics, Population , Humans , New Guinea , Polymerase Chain Reaction , Population Groups
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