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Night Comes to the Chromosomes: Inbreeding and Population Genetics in Southern Appalachia
Abstract
Assimptions about the prevalence of inbreeding in Appalachia have long been used to account for certain characteristics of the mountain people and their culture. Such premises continue to be accepted as valid explanations even though little quantitative evidence has ever been presented on the subject. Inbreeding has become part of the popular stereotyped image of Appalachia, and has even been used to imply that mountain people are inherently to blame for their disadvantage! political and economic situation. This article presents a less speculative view of consanguineous marriage in Appalachia, based on the author's fieldwork, in which rates of isonymy (marriage between persons with the same surname) were used to estimate levels of inbreeding in a remote four-county area of Eastern Kentucky over a 140-year time period. The findings, along with data from previous studies of marriage patterns in mountain communities, suggest that inbreeding levels in Appalachia do not seem extreme enough to justify labeling inbreeding as unique or particularly common to the region, when compared with those reported for populations elsewhere or at earlier periods in American history.
Objective:
Pilot study to assess utility in opioid use disorder (OUD) of a panel of single nucleotide polymorphisms in genes previously related to substance use disorder (SUD) and/or phenotypes that predispose individuals to OUD/SUD.
Design:
Genetic association study.
Setting:
West Virginia University's Chestnut Ridge Center Comprehensive Opioid Abuse Treatment (COAT) clinic for individuals diagnosed with OUD.
Patients:
Sixty patients 18 years of age or older with OUD undergoing medication (buprenorphine/naloxone)-assisted treatment (MAT); all sixty patients recruited contributed samples for genetic analysis.
Outcome measures:
Minor allele frequencies for single nucleotide polymorphisms.
Results:
Four of the fourteen single nucleotide polymorphisms examined were present at frequencies that are statistically significantly different than in a demographically-matched general population.
Conclusions:
For the purposes of testing WV individuals via genetic means for predisposition to OUD, at least four single nucleotide polymorphisms in three genes are likely to have utility in predicting susceptibility. Additional studies with larger populations will need to be conducted to confirm these results before use in a clinical setting.
Stereotypes of Appalachians can persist in our collective imaginations. This article addresses such stereotypes as unfounded. The historical origin of these stereotypes is identified. Alternate images of positive values and characteristics of Appalachian people are presented. Recommendations for spiritual care are outlined consistent with the characteristics of the Appalachian population.
The kinship forms of a community in the Appalachian Mountains of the southeastern United States are examined, with a focus on a kinship unit called the set by the mountain people. This unit, which is a collection of descendants of a common ancestor living in close proximity, is analyzed in terms of its composition, constitution, and use in network formation. It is demonstrated that the set is not simply a kinship group and that its existence is not simply an adaptation to poverty. Rather, it is a codification of the distinctions of kinship, personal identity, and class understood by the mountain people. The nexus of these class relationships lies in usufructuary rights of kin to land, which has been translated into an idiom of identification with named localities. [kinship, class, Appalachia, land]
Author Institution: Department of Geology and Geography, University of Cincinnati, Cincinnati, Ohio
Admixture of White, Negro, and Indian peoples of the Southeastern United States from colonial days on has led to some unique populations isolated by social status. In time they formed distinctive gene pools. On the basis of physical traits and serological factors, it has been possible to reconstruct the approximate genetic contribution of parental populations to the hybrid ones. Some inherited diseases have also been concentrated in these isolates. Both differential fertility and changing social factors may affect the future of these populations.
Pages also numbered 347-441. Thesis (Ph. D.)--Columbia University, 1908. Vita. Includes bibliographical references (p. [96]-98).
Törbel provides an interesting test case for the study of the relationship between inbreeding measured by pedigrees and inbreeding measured by isonymy. At the start of this investigation, we were aware that isonymy could introduce biases into the calculation of the inbreeding coefficient in either direction. However, it was expected that in Switzerland, inbreeding from isonymy would be an overestimate due to patrilocal residence and polyphyletic names. One way of dealing with this problem [13] was not to be concerned with the absolute value of inbreeding but only in the difference between estimates. Any bias introduced in the estimate itself disappears in such comparisons, so that a trend of inbreeding can be ascertained correctly. However, it was considered equally important to subject several populations to both a complete pedigree analysis and an isonymic analysis to determine the relationship between estimates of inbreeding. Despite the fact that several authors (Swedlund [18], for example) warned users of isonymy to exercise caution, the careless application of isonymy still persists. In the present study, estimates of inbreeding from isonymy were brought into line with other methods based on pedigree analysis and population size. However, it was possible to do this only in Törbel where pedigree depth was extensive and relatively complete. Similar corrections are possible only when the distribution of mono- and polyphyletic names is known and when migration data are reliable. If the trouble is taken to make these corrections, the same time and effort might as well be spent in pedigree analysis (when fairly complete ascertainment is possible) to achieve the same end result.
Under certain assumptions the commonality of surnames in two lists of names yields a coefficient of relationship by isonymy (Ri) of the populations from which the samples were drawn. The 6,142 principals to marriages between 1753 and 1950 in eight Otmoor Church of England parishes permitted many estimates of Ri between pairs of places of residence and between the sexes within single parishes. By calculating Ri of the same pair of communities in different ways, reliabilities of 20-70% are demonstrated. Ri for 1753-1850 and for 1976 are positively correlated with each other but not highly so. The Ri within single parishes is nearly an order of magnitude higher than that between parishes and that between pairs of the 8 parishes is higher on average than those with other places. Ri between parishes tended to increase from about 1800 to about 1900 and to decrease by 1976. Ri is positively correlated with marital migration and tends to be negatively correlated with distance between parishes.
The genetic relationships between each pair of 5 communities in Peru has been estimated by isonymy (identity of surname among individuals). The increments to these coefficients which can be accounted for by the migrations from birthplace to place of residence account for 1/5 - 1/138 with a median of 1/28 of the accumulated relationship. At the present rate it would thus have taken almost 5 to 138 with a median of 28 generations to accumulate this amount and there have been only about 16-20 generations for this to have happened. Therefore, although the values of the coefficients relative to each other are of value and the method shows the pattern of biological relationships between communities it apparently tends to overstate the degree of relationship.
To the extent that persons having the same surname can be assumed to be descended from the same progenitor through the male line (in patrilineal societies), and assuming that relationships through female lines and mixed lines are proportional to those through the male line, then the frequency of shared surnames between two communities samples the genetic lineages and measures the degree of biological kinship between the communities. Specifically the number of possible pairs of individuals with identical surnames in two samples, divided by the number of all possible pairs would be just twice the coefficient of relationship (the proportion of genes identical by descent). I use the term coefficient of relationship by isonymy (Ri) for the average coefficient of relationship estimated in this way. Ri = sigma(N(s1).N(s2))/2N1N2 where N(s1) equals the number of instances of surname s in the first sample and N(s2) the incidence of the same surname in the second sample, and N1 = sigma(s)N(s1) and N2 = sigma(s)N(s2) and are the respective sample sizes. Random samples of 178 to 632 surnames of individuals in each of 5 communities within 51 km of each other on the north coast of Peru give the 10 relationship coefficients between communities of.0010 to.0024 compared with the five relationship coefficients between the sexes within the communities of.0018 to.0200.
Genealogical, marital, birthplace and age-at-marriage data were collected on a random sample of 275 reproducing couples from the population of a rural Appalachian county in north-eastern Tennessee. Genealogies covering the three extant generations provided the data for a surname isonymy analysis to determine the amount of inbreeding prevalent, while the marital, birthplace and age at marriage data were used to ascertain the components of marital movement, i.e., marital distance, orientation of marital movement, spatial exogamy, and "diffusion". The effective breeding population and effective immigration rate were calculated for the county population and these in turn were used to compute the coefficient of breeding isolation for the currently reproduction population. Our conclusions agree with those of an earlier genetic and demographic study on one segment of the same population. The more extensive demographic analysis illustrates the value of such studies as this for providing background for interpretations of genetic variation.
The relationship between inbreeding as measured by isonymy and by pedigrees was investigated in Kippel, a village in southern Switzerland. Inbreeding estimated by isonymy was 3.5 times the estimate obtained from pedigree analysis. Our results indicate a higher prevalence of lines traced through males owing to social causes. This limited pool of potential mates has a high frequency of shared surnames which produces the overestimate of inbreeding by isonymy.
Demographic data were collected in an isolated Swiss alpine village for all (228) marriages from 1900-1969, and for all native residents (450) of the village in 1970. Genealogies four to six generations deep provide the base data for an analysis of isonymy, inbreeding, migration, relationship between isonymy and inbreeding coefficient, and prevalence of cousin marriage among isonymous pairs. This type of analysis demonstrates the usefulness of combining ethnographic and demographic data in examining the genetic structure and the potential for evolution of an isolate.
From an isonymic analysis of marriages in Northumberland parishes in the 17th and 18th centuries, inbreeding is estimated. Levels suggest a high degree of localization of mating, and a restricted gene pool. Secular trends in inbreeding and differences between parishes emerge, which appear to correlate with historical events.
Von einer isonymischen Analyse von Hochzeiten in Gemeinden in Northumberland im 17. und 18. Jahrhundert, Inzucht ist vermutet. Niveaus zeigen lokales paaren in einem hohen Grade und einen beschränkten Gene-Pool. Sekuläre Neigungen in Inzucht und Differenzen zwischen den Gemeinden tauchen auf, die mit historischen Ereignissen zu korrespondieren scheinen.
L'endogamie a été mesurée à partir d'une analyse isonymique des mariages enregistrés dans les paroisses du Northumberland aux 17ème et 18ème siècles. Les niveaux obtenus suggèrent la présence d'une importante focalisation des mariages, et une limitation du stock génétique. Des tendances séculaires de l'endogamie et des différences interparoissiales apparaîssent; elles semblent étre en corrélation avec des évènements historiques.
The high frequency of albinism among Hopi Indians is an intriguing problem in population genetics.
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