Alpha-globin gene haplotypes in Polynesians: their relationships to population groups and gene rearrangements.

Five hundred two alpha-globin gene haplotypes were established in three Polynesian populations, Samoans, Maoris, and Niueans. Limited diversity of haplotypes was found in Polynesians, in whom six common haplotypes (Ia, IIa, IId, IIe, IIIa, and IVa) predominate. Haplotypes Ia and IIa enable Polynesians to be distinguished from Melanesians. Differences in haplotype profiles between the above Polynesian populations support their separate clustering on the basis of previous globin gene analyses and proposed theories of migration. The -alpha/, alpha alpha alpha/, -zeta/, and zeta zeta zeta/rearrangements are each associated exclusively with a particular haplotype, providing evidence of a single evolutionary origin for each. Therefore, a minimum of four DNA crossover events account for the separate origins of these rearrangements in the Polynesians.     

Phenylalanine hydroxylase gene haplotypes in Polynesians: evolutionary origins and absence of alleles associated with severe phenylketonuria.

A total of 630 haplotypes for the phenylalanine hydroxylase (PAH) gene locus were established in five groups of Polynesians comprising Samoans, Tongans, Cook Islanders, Maori, and Niueans. Considerable genetic continuity was demonstrated between these widely dispersed populations, since three common haplotypes (4, 1, and 7) constituted over 95% of alleles. A control group of individuals from Southeast Asia shared the same major haplotypes, 4, 1, and 7, with Polynesians. These data provide further support for the theories of genetic homogeneity and of Asian affinities of the Polynesian precursor populations. The absence of severe phenylketonuria (PKU) in both Polynesians and Southeast Asians is consistent with the lack of PAH haplotypes 2 and 3, on which the severe PKU mutants have arisen among Caucasians.     

The Le(a+b+) phenotype in Polynesians

The presence of the rare Lewis phenotype Le(a+b+) is reported in various Polynesian groups, including Maoris, Samoans, Cook Islanders, Nuieans and Tokelau Islanders. The phenotype was found in Polynesians of all blood groups and the frequency was significantly increased in group 0 persons. The phenotype was not significantly associated with H reactivity in group A donors and showed no correlation with age or sex.     

Mitochondrial DNA variation is an indicator of austronesian influence in Island Melanesia.

Past studies have shown a consistent association of a specific set of mitochondrial DNA 9 base pair (bp) deletion haplotypes with Polynesians and their Austronesian-speaking relatives, and the total lack of the deletion in a short series of New Guinea Highlanders. Utilizing plasma and DNA samples from various old laboratory collections, we have extended population screening for the 9-bp deletion into "Island Melanesia," an area notorious for its extreme population variation. While the 9-bp deletion is present in all Austronesian, and many non-Austronesian-speaking groups, it is absent in the more remote non-Austronesian populations in Bougainville and New Britain. These results are consistent with the hypothesis that this deletion was first introduced to this region about 3,500 years ago with the arrival of Austronesian-speaking peoples from the west, but has not yet diffused through all populations there. The pattern cannot be reconciled with the competing hypothesis of a primarily indigenous Melanesian origin for the ancestors of the Polynesians. Although selection clearly has operated on some other genetic systems in this region, both migration and random genetic drift primarily account for the remarkable degree of biological diversity in these small Southwest Pacific populations.     

Plasma lipoprotein(a) distribution and its correlates among Samoans

Plasma lipoprotein(a) [Lp(a)]-consisting of a disulfide-linked complex of apolipoprotein B and apolipoprotein (a)--levels are considered to be an independent risk factor for coronary heart disease. There are considerable ethnic group differences in the distribution of plasma Lp(a) levels that raise public health concerns. Although plasma Lp(a) distribution has been determined in various ethnic groups, no such information is available in Pacific Islanders. In this study we have determined the distribution and correlates of plasma Lp(a) in population-based samples of 361 American Samoans (145 men, 216 women) and 560 Western Samoans (265 men, 295 women), aged 20-70 years. Plasma Lp(a) levels were measured using a commercial enzyme-linked immunosorbent assay. The distribution of plasma Lp(a) levels in both groups was highly skewed with 73% and 65% of values in the 0-5 mg/dl range in American Samoans and Western Samoans, respectively. The mean (6.4 mg/dl) and median (2.2 mg/dl) Lp(a) levels in pooled Samoans were significantly lower when compared with other ethnic groups using the same measurement kit. Plasma Lp(a) correlated significantly with total and LDL cholesterol in both genders after correcting for the contribution of Lp(a) cholesterol, and with apolipoprotein B in women after the correction for Lp(a)-apoB, but not with age, smoking, alcohol intake, or body mass index. Our data show that Samoans, Polynesians of Pacific Islands, have strikingly lower Lp(a) levels than all other reported population groups. These data are consistent with the hypothesis that genetic factors account for interethnic group variation in plasma Lp(a) levels.     

Lactose malabsorption in Polynesian and white children in the south west Pacific studied by breath hydrogen technique.

Lactose malabsorption was studied by a breath hydrogen technique in 139 Samoan and 68 white schoolchildren. The Samoans were studied in four locations, two in Western Samoa and two in New Zealand, and the white children in both the Cook Islands and New Zealand. The prevalence of malabsorption varied with location: for Samoans it ranged from 41% to 60% in Western Samoa and 0% to 35% in New Zealand; white children had rates of 27% in the Cook Islands and 5% in New Zealand. Environmental factors rather than genetic factors are likely to play the main part in initiating if not perpetuating lactose malabsorption. In both races lactose malabsorption had no effect on the acceptance of, consumption of, and number of gastrointestinal symptoms caused by milk and milk biscuits. Children who had symptoms after consuming a particular dairy product were more likely to say they disliked it than those who reported no symptoms.     

The Rh phenotype r'r' in Polynesians

Since 1970, 19 persons with the r'r' phenotype have been detected at the Auckland Blood Transfusion Centre. All have been Maoris or Pacific Islanders. This study reports the detailed serological investigations on 11 r'r' samples. No evidence was found for the presence of the Du antigen, and there was no evidence that the Polynesian r' was related to the Negroid r'. It is postulated that the r' (Cde) of Polynesians arose from a mutation of CDe. No morphological abnormalities of r'r' red cells were found. Blood samples were also tested for various high- and low-frequency antigens, and one specimen was found to be r'r' Jk(a-b-).     

Brief communication: mitochondrial DNA variation suggests extensive gene flow from Polynesian ancestors to indigenous Melanesians in the northwestern Bismarck Archipelago

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.     

Brachylaima apoplania n. sp. (Digenea: Brachylaimidae) from the Polynesian rat, Rattus exulans (Rodentia: Muridae), in New Zealand: origins and zoogeography

Brachylaima apoplania n. sp. is described from the small intestine of the Polynesian rat (Rattus exulans) on Tiritiri Matangi Island, New Zealand. The new species is most similar to Brachylaima ratti Baugh, 1962, from Rattus rattus. The two species differ only in morphometric characters, B. apoplania possessing significantly smaller suckers, pharynx, testes, ovary, and cirrus sac. The close resemblance between B. apoplania and B. ratti, the close relationship between their hosts, and archaeological evidence on the origin and early dispersal of R. exulans are used to hypothesize a common Southeast Asian origin for the 2 Brachylaima species. Brachylaima apoplania is believed to have dispersed subsequently throughout the South Pacific islands, along with its rodent host, in the canoes of the ancestors of the modern Polynesians and Maoris.     

Genome-wide analysis indicates more Asian than Melanesian ancestry of Polynesians

Analyses of mitochondrial DNA (mtDNA) and nonrecombining Y chromosome (NRY) variation in the same populations are sometimes concordant but sometimes discordant. Perhaps the most dramatic example known of the latter concerns Polynesians, in which about 94% of Polynesian mtDNAs are of East Asian origin, while about 66% of Polynesian Y chromosomes are of Melanesian origin. Here we analyze on a genome-wide scale, to our knowledge for the first time, the origins of the autosomal gene pool of Polynesians by screening 377 autosomal short tandem repeat (STR) loci in 47 Pacific Islanders and compare the results with those obtained from 44 Chinese and 24 individuals from Papua New Guinea. Our data indicate that on average about 79% of the Polynesian autosomal gene pool is of East Asian origin and 21% is of Melanesian origin. The genetic data thus suggest a dual origin of Polynesians with a high East Asian but also considerable Melanesian component, reflecting sex-biased admixture in Polynesian history in agreement with the Slow Boat model. More generally, these results also demonstrate that conclusions based solely on uniparental markers, which are frequently used in population history studies, may not accurately reflect the history of the autosomal gene pool of a population.     

Polynesian dentition

The chance discovery of a paper by Rottstock et al. (1983) comparing the individual diameters of 4,497 teeth from 711 skulls from anthropologically-different populations (Europeans, Negroids, Mongoloids, Melanesians) provided the impetus to add our measurements of 449 teeth from 89 Polynesians (mainland Maoris, Chatham Island, Wairau Bar) to the series. We confirm that dental measurements provide clear differences among the different population groups. We confirm that dental indices are useful by disclosing specific dental relationships among the different population groups.     

The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time

We estimate an effective mutation rate at an average Y chromosome short-tandem repeat locus as 6.9x10-4 per 25 years, with a standard deviation across loci of 5.7x10-4, using data on microsatellite variation within Y chromosome haplogroups defined by unique-event polymorphisms in populations with documented short-term histories, as well as comparative data on worldwide populations at both the Y chromosome and various autosomal loci. This value is used to estimate the times of the African Bantu expansion, the divergence of Polynesian populations (the Maoris, Cook Islanders, and Samoans), and the origin of Gypsy populations from Bulgaria.     

The origins of the Polynesians: an interpretation from mitochondrial lineage analysis.

Using mitochondrial lineage analysis of 1,178 individuals from Polynesia, the western Pacific, and Taiwan, we show that the major prehistoric settlement of Polynesia was from the west and involved two or possibly three genetically distinct populations. The predominant lineage group, accounting for 94% of Polynesian mtDNA, shares a 9-bp COII/tRNA(Lys) intergenic deletion and characteristic control region transition variants, compared to the Cambridge reference sequence. In Polynesia, the diversity of this group is extremely restricted, while related lineages in Indonesia, the Philippines, and Taiwan are increasingly diverse. This suggests a relatively recent major eastward expansion into Polynesia, perhaps originating from Taiwan, in agreement with archeological and linguistic evidence, but which experienced one or more severe population bottlenecks. The second mitochondrial lineage group, accounting for 3.5% of Polynesian mtDNA haplotypes, does not have the 9-bp deletion and its characterized by an A-C transversional variant at nt position 16265. Specific oligonucleotides for this variant were used to select individuals from the population sample who, with other sequences, show that the Polynesian lineages were part of a diverse group in Vanuatu and Papua New Guinea. The very low overall diversity of both lineage groups in Polynesia suggests there was severe population restriction during the colonization of remote Oceania. A third group, represented by only four individuals (0.6%) in Polynesia but also present in the Philippines, shares variants at nt positions 16172 and 16304. Two Polynesians had unrelated haplotypes matching published sequences from native South Americans, which may be the first genetic evidence of prehistoric human contact between Polynesia and South America.     

Melanesian and Asian origins of Polynesians: mtDNA and Y chromosome gradients across the Pacific

The human settlement of the Pacific Islands represents one of the most recent major migration events of mankind. Polynesians originated in Asia according to linguistic evidence or in Melanesia according to archaeological evidence. To shed light on the genetic origins of Polynesians, we investigated over 400 Polynesians from 8 island groups, in comparison with over 900 individuals from potential parental populations of Melanesia, Southeast and East Asia, and Australia, by means of Y chromosome (NRY) and mitochondrial DNA (mtDNA) markers. Overall, we classified 94.1% of Polynesian Y chromosomes and 99.8% of Polynesian mtDNAs as of either Melanesian (NRY-DNA: 65.8%, mtDNA: 6%) or Asian (NRY-DNA: 28.3%, mtDNA: 93.8%) origin, suggesting a dual genetic origin of Polynesians in agreement with the "Slow Boat" hypothesis. Our data suggest a pronounced admixture bias in Polynesians toward more Melanesian men than women, perhaps as a result of matrilocal residence in the ancestral Polynesian society. Although dating methods are consistent with somewhat similar entries of NRY/mtDNA haplogroups into Polynesia, haplotype sharing suggests an earlier appearance of Melanesian haplogroups than those from Asia. Surprisingly, we identified gradients in the frequency distribution of some NRY/mtDNA haplogroups across Polynesia and a gradual west-to-east decrease of overall NRY/mtDNA diversity, not only providing evidence for a west-to-east direction of Polynesian settlements but also suggesting that Pacific voyaging was regular rather than haphazard. We also demonstrate that Fiji played a pivotal role in the history of Polynesia: humans probably first migrated to Fiji, and subsequent settlement of Polynesia probably came from Fiji.     

Freezer anthropology: new uses for old blood

Archived blood fractions (plasma, settled red cells, white cells) have proved to be a rich and valuable source of DNA for human genetic studies. Large numbers of such samples were collected between 1960 and the present for protein and blood group studies, many of which are languishing in freezers or have already been discarded. More are discarded each year because the usefulness of these samples is not widely understood. Data from DNA derived from 10-35-year-old blood samples have been used to address the peopling of the New World and of the Pacific. Mitochondrial DNA haplotypes from studies using this source DNA support a single wave of migration into the New World (or a single source population for the New World), and that Mongolia was the likely source of the founding population. Data from Melanesia have shown that Polynesians are recent immigrants into the Pacific and did not arise from Melanesia.     

Beta-globin gene haplotypes in Polynesians are predominantly southern Chinese in type

beta-Globin gene haplotypes obtained in Polynesian Samoans were similar to those described in Southern Chinese. An atypical HindIII restriction fragment length polymorphism detected with pRK29, a 3' beta-globin gene probe, was present at a gene frequency of 7% in Samoans. Haplotype patterns suggest that this polymorphism may have arisen by 1 or 2 mutational events. DNA haplotypes derived from the beta-globin gene cluster confirm nuclear and mitochondrial DNA data that Polynesian precursor populations were East Asian in origin.     

Mitochondrial DNA variability of West New Guinea populations.

This paper reports human mitochondrial DNA variability in West New Guinea (the least known, western side of the island of New Guinea), not yet described from a molecular perspective. The study was carried out on 202 subjects from 12 ethnic groups, belonging to six different Papuan language families, representative of both mountain and coastal plain areas. Mitochondrial DNA hypervariable region 1 (HVS 1) and the presence of the 9-bp deletion (intergenic region COII-tRNA(Lys)) were investigated. HVS 1 sequencing identified 73 polymorphic sites defining 89 haplotypes; the 9-bp deletion, which is considered a marker of Austronesian migration in the Pacific, was found to be absent in the whole West New Guinea study sample. Statistical analysis applied to the resulting haplotypes reveal high heterogeneity and an intersecting distribution of genetic variability in these populations, despite their cultural and geographic diversity. The results of subsequent phylogenetic approaches subdivide mtDNA diversity in West New Guinea into three main clusters (groups I-III), defined by sets of polymorphisms which are also shared by some individuals from Papua New Guinea. Comparisons with worldwide HVS 1 sequences stored in the MitBASE database show the absence of these patterns outside Oceania and a few Indonesian subjects, who also lack the 9-bp deletion. This finding, which is consistent with the effects of genetic drift and prolonged isolation of West New Guinea populations, lead us to regard these patterns as New Guinea population markers, which may harbor the genetic memory of the earliest human migrations to the island.     

Melanesian origin of Polynesian Y chromosomes

BACKGROUND: Two competing hypotheses for the origins of Polynesians are the 'express-train' model, which supposes a recent and rapid expansion of Polynesian ancestors from Asia/Taiwan via coastal and island Melanesia, and the 'entangled-bank' model, which supposes a long history of cultural and genetic interactions among Southeast Asians, Melanesians and Polynesians. Most genetic data, especially analyses of mitochondrial DNA (mtDNA) variation, support the express-train model, as does linguistic and archaeological evidence. Here, we used Y-chromosome polymorphisms to investigate the origins of Polynesians. RESULTS: We analysed eight single nucleotide polymorphisms (SNPs) and seven short tandem repeat (STR) loci on the Y chromosome in 28 Cook Islanders from Polynesia and 583 males from 17 Melanesian, Asian and Australian populations. We found that all Polynesians belong to just three Y-chromosome haplotypes, as defined by unique event polymorphisms. The major Y haplotype in Polynesians (82% frequency) was restricted to Melanesia and eastern Indonesia and most probably arose in Melanesia. Coalescence analysis of associated Y-STR haplotypes showed evidence of a population expansion in Polynesians, beginning about 2,200 years ago. The other two Polynesian Y haplotypes were widespread in Asia but were also found in Melanesia. CONCLUSIONS: All Polynesian Y chromosomes can be traced back to Melanesia, although some of these Y-chromosome types originated in Asia. Together with other genetic and cultural evidence, we propose a new model of Polynesian origins that we call the 'slow-boat' model: Polynesian ancestors did originate from Asia/Taiwan but did not move rapidly through Melanesia; rather, they interacted with and mixed extensively with Melanesians, leaving behind their genes and incorporating many Melanesian genes before colonising the Pacific.     

Obesity and Self‐reported General Health,Hawaii BRFSS: Are Polynesians at Higher Risk?

Objective: This study compared the relationship between fair/poor general health status among overweight and obese Polynesians with that among other overweight and obese persons in Hawaii. Methods and Procedures: Data were pooled from the 1998–2003 Hawaii Behavioral Risk Factor Surveillance System (BRFSS) and logistic regression used to examine the predictors of fair/poor health status. Results: Polynesians were significantly more likely to be obese than non‐Polynesians; overweight Polynesians were more likely than other overweight individuals to report fair/poor health status. After adjusting for confounders, among Polynesians, being obese was no longer associated with fair/poor health. Non‐Polynesians who were obese (odds ratio 1.9; 95% confidence interval: 1.4–2.6), older, less educated, smokers, diabetic, hypertensive, and physically inactive were more likely to report fair/poor health. Discussion: Although Polynesians were significantly more obese than the rest of the Hawaii population, their weight was not independently associated with their odds for fair/poor health as it was with non‐Polynesians. The difference may be that, for Polynesians, hypertension and diabetes overrode the effect of obesity on general health status or this group maintains different cultural perceptions of body size. Regardless, these findings show a major health risk among Polynesians and suggest the need for culturally specific health interventions.     

Globin genes in Polynesians have many rearrangements including a recently described gamma gamma gamma gamma/.

Rearrangements involving genes of the alpha- and beta-globin loci were frequently detected in DNA from Polynesians. A founder effect and genetic drift occurring 2,000-3,000 years ago as Polynesians migrated eastward across the Pacific is proposed as the likely mechanism for these genetic changes that include deletions or additions of alpha-, gamma-, and zeta-globin genes and an unusual restriction fragment length polymorphism (RFLP) associated with the zeta gene. Preliminary data show different frequencies for gene rearrangements between island groups. Further study of these differences should provide additional information on the prehistory of Polynesians.