Distribution of the incidence of anencephaly in Japan

Abstract

Distributions of the incidence of anencephaly in Japan were obtained using nationwide data on fetal and postnatal deaths of individuals with anencephaly during 1969–71. Higher incidences of anencephaly occurred in the urbanized and industrialized areas and lower values in the comparatively sparsely populated highlands. Population size and variance of incidence show a negative association. The distribution of the incidence seems to be binomial, and expected incidences based on binomial distribution indicated good agreement with weighted mean incidences in populations with different sizes. The rate of first cousin marriages among the parents of anencephalic patients is 1.86 per cent, a value not significantly different from the value of general population, 2.13 per cent. It seems that the inheritance of anencephaly is not related to a specific number of recessive genes.     

Consanguineous marriages in Afghanistan

The present cross-sectional study was done in order to illustrate the prevalence and types of consanguineous marriages among Afghanistan populations. Data on types of marriages were collected using a simple questionnaire. The total number of couples in the study was 7140 from the following provinces: Badakhshan, Baghlan, Balkh, Bamyan, Kabul, Kunduz, Samangan and Takhar. Consanguineous marriages were classified by the degree of relationship between couples: double first cousins, first cousins, first cousins once removed, second cousins and beyond second cousins. The coefficient of inbreeding (F) was calculated for each couple and the mean coefficient of inbreeding (α) estimated for each population. The proportion of consanguineous marriages in the country was 46.2%, ranging from 38.2% in Kabul province to 51.2% in Bamyan province. The equivalent mean inbreeding coefficient (α) was 0.0277, and ranged from 0.0221 to 0.0293 in these two regions. There were significant differences between provinces for frequencies of different types of marriages (p<0.001). First cousin marriages (27.8%) were the most common type of consanguineous marriages, followed by double first cousin (6.9%), second cousin (5.8%), beyond second cousin (3.9%) and first cousin once removed (1.8%). There were significant differences between ethnic groups for the types of marriages (χ2=177.6, df=25, p<0.001). Tajiks (Soni) and Turkmens (also Pashtuns) showed the lowest (α=0.0250) and highest (α=0.0297) mean inbreeding coefficients, respectively, among the ethnic groups in Afghanistan. The study shows that Afghanistan's populations, like other Islamic populations, have a high level of consanguinity.     

Consanguineous marriages in Beirut: Time trends,spatial distribution

Abstract

Twenty‐five per cent of all marriages are consanguineous in a population‐based sample of couples from Beirut. Marriages between distant relatives decline with time, while first‐cousin marriages remain relatively stable. Among first‐cousin marriages, the proportions of father's brother's daughter marriages (37 per cent) and of patrilateral unions (48 per cent) are particularly low. A spatial representation demonstrates an uneven distribution of consanguineous marriages, and an association of high levels of endogamy with Muslim religion, low educational level, and low occupational status.     

Estimates of cousin marriage and mean inbreeding in the United Kingdom from 'birth briefs'

From 626 ascendant genealogies, known as 'birth briefs', deposited by members of the Society of Genealogists in their London library, rates of consanguineous marriage and coefficients of mean inbreeding (a) of offspring were estimated for cohorts of marriages contracted in the late nineteenth and early twentieth centuries. The rate of first cousin marriage in the generation estimated to have married during the 1920s was 0.32%, with no marriages between second cousins. The mean inbreeding coefficient for the offspring of these marriages was estimated as 0.0002. In the previous generation 1.12% of the marriages were between first cousins, and the estimate of mean inbreeding was 0.0007. Comparison with data taken from the published literature suggests that the levels of cousin marriage observed are consistent with a secular decline during the late nineteenth and twentieth centuries.     

Inbreeding in Southeastern Spain

In this paper, the structure of a southeastern Spanish population was studied for the first time with respect to its inbreeding patterns and its relationship with demographic and geographic factors. Data on consanguineous marriages (up to second cousins) from 1900 to 1969 were taken from ecclesiastic dispensations. Our results confirm that the patterns and trends of inbreeding in the study area are consistent with those previously observed in most non-Cantabrian Spanish populations. The rate of consanguineous marriages was apparently stable between 1900 and 1935 and then sharply decreased since 1940, which coincides with industrialization in Spain. A marked departure from Hardy-Weinberg expectations (0.25) in the ratio of first cousin (M22) to second cousin (M33) marriages in the study population (0.88) was observed. The high levels of endogamy (>80%) and its significant steadiness throughout the twentieth century is noteworthy. Accordingly, our results show that exogamous marriages were not only poorly represented but also that this reduced mobility (<6 km) suggests that the choice of a mate was preferentially local. We found higher mobility in M22 with respect to M33 cousin mating. The relationships between population size and consanguinity rates and inbreeding fit power-law distributions. A significant positive correlation was observed between inbreeding and elevation. Many Spanish populations have experienced a prolonged and considerable isolation across generations, which has led to high proportions of historical and local endogamy that is associated, in general, with high \( \overline{F} \) values. Thus, assessing genomic inbreeding using runs of homozygosity (ROH) in current Spanish populations could be an additional pertinent strategy for obtaining a more refined perspective regarding the population history inferred from the extent and frequency of ROH regions.     

Parallel cousin marriages in Madras,Tamil Nadu: New trends in Dravidian kinship

Abstract

The frequency distribution of various consanguineous marriages was studied in the city of Madras, Tamil Nadu, South India. Parallel first cousin marriages (PFC) were found to occur in appreciable frequencies in all caste groups of Hindus. While it has been generally believed that PFC marriages among Hindus are mere exceptions and are usually not tolerated, our data show that they can no longer be treated as exceptions. The high frequency (27 per cent) of PFC marriages in some Hindu communities necessitates in‐depth studies to elucidate the forces at work which go against the very fundamentals of Dravidian kinship.     

Geographic, demographic and inbreeding patterns in a Basque mountainous region of Guipuzcoa

The Goierri, a mountain region within the Basque Hills of Guipúzcoa, includes one of the most culturally controlled autochthonous populations within the Basque area, mainly from linguistic point of view. The effects of geography and demographic changes (1862–1995) on consanguinity variables over its 21 Municipalities have been investigated. Rates of consanguineous marriages and mean inbreeding levels recorded in some of the southern villages can be considered high but, average values for the entire region were lowered due to the early industrialization of the province. In spite of that, consanguinity in the study area has been, for a long time, a prevailing and conspicuous phenomenon when compared to the other Guipúzcoa regions. The impact of marriages between first cousins from immigrant groups on the regional inbreeding levels represents an interesting result as well. Geographic and demographic factors seem to be related both to the extent of marriages as well as to the number of potential mates within populations, which, in turn, are associated with mean inbreeding levels. Altitude seems to show weak relationship with population distribution and population consanguinity variables. Nevertheless, levels of endogamy appear positively correlated with consanguinity rates and mean inbreeding coefficient and, inversely related-but not statistically significant- to mean village sizes. First cousin marriages yield the highest levels of exogamy and exogamous M22 marriages were mostly concentrated within short (1–10 km) and long-range marital distances (>50 km). The aveaage values of Goierri have been compared with a consanguinity data set of some selected Spanish mountain populations taken from the literature. One of the main results is that geographic and demographic variables are poorly correlated with the most important inbreeding parameters. However, different clusters of populations can be observed with specific characteristics for each of them, not highly correlated with geography.     

Darwin was right: inbreeding depression on male fertility in the Darwin family

Charles Darwin, who was married to his first cousin Emma Wedgwood, was the first experimentalist to demonstrate the adverse effects of inbreeding. He documented the deleterious consequences of self‐fertilization on progeny in numerous plant species, and this research led him to suspect that the health problems of his 10 children, who were very often ill, might have been a consequence of his marriage to his first cousin. Because Darwin's concerns regarding the consequences of cousin marriage on his children even nowadays are considered controversial, we analyzed the potential effects of inbreeding on fertility in 30 marriages of the Darwin–Wedgwood dynasty, including the marriages of Darwin's children, which correspond to the offspring of four cousin marriages and three marriages between unrelated individuals. Analysis of the number of children per woman through zero‐inflated regression models showed a significantly adverse effect of the husband inbreeding coefficient on family size. Furthermore, a statistically significant adverse effect of the husband inbreeding coefficient on reproductive period duration was also detected. To our knowledge, this is the first time that inbreeding depression on male fertility has been detected in humans. Because Darwin's sons had fewer children in comparison to non‐inbred men of the dynasty, our findings give empirical support to Darwin's concerns on the consequences of consanguineous marriage in his own progeny. © 2014 The Linnean Society of London, Biological Journal of the Linnean Society, 2015, 114 , 474–483.     

Parallel cousin marriages in Madras, Tamil Nadu: new trends in Dravidian kinship

The frequency distribution of various consanguineous marriages was studied in the city of Madras, Tamil Nadu, South India. Parallel first cousin marriages (PFC) were found to occur in appreciable frequencies in all caste groups of Hindus. While it has been generally believed that PFC marriages among Hindus are mere exceptions and are usually not tolerated, our data show that they can no longer be treated as exceptions. The high frequency (27 per cent) of PFC marriages in some Hindu communities necessitates in-depth studies to elucidate the forces at work which go against the very fundamentals of Dravidian kinship.     

Inbreeding among endogamous groups in three multicaste villages of Srikakulam district,Andhra Pradesh,India

Abstract

In the present paper 702 families have been studied belonging to different endogamous groups in three multicaste villages of Srikakulam District, Andhra Pradesh. It is observed that 33.76 per cent of families are consanguineous marriages. With regard to the types of marriages, 12.11 per cent are uncle‐niece; 14.10 per cent are matrilateral cross‐cousins; 5.84 per cent are patrilateral cross‐cousins; 0.57 per cent are first cousins once removed, and 1.14 per cent are second cousins. There are only six couples (0.86 per cent) in intercaste marriages. The coefficient of inbreeding for autosomal and sex‐linked genes, 0.045 and 0.059, respectively, for Chakalis which are higher than Kalingas (F = 0.03; F1 = 0.038), Segidis (F = 0.031; F1 = 0.041), Velamas (F = 0.026; F1 = 0.036), Vysyas (F = 0.027; F1 = 0.034), Malas (F = 0.017; F1 = 0.026), and others (F = 0.026; F1 = 0.032). The t‐tests for mean marriage distances are statistically significant among all castes, but chi‐squares for intergroup difference of consanguineous and nonconsanguineous marriages are statistically significant only among Kalingas and Chakalis, Vysyas and Chakalis, and Malas and Chakalis.     

Inbreeding patterns in La Cabrera, Spain: dispensations, multiple consanguinity analysis, and isonymy

Marital structure and inbreeding coefficients were analyzed in La Cabrera, an isolated mountain region in northwestern Spain. A total of 5,714 marriages were celebrated from 1880 to 1989 in the 37 parishes of the area. The total frequency of consanguineous marriages (up to the fourth degree) is 23.05%; multiple consanguineous marriages are remarkably common, reaching 5.43% of the total. The first cousin/second cousin ratio (referred to as kinship-type frequencies) is 0.43. The inbreeding values are the highest recorded in Spain and in Europe: alpha3 is 4.82 x 10(-3) for the whole period and alpha4 is 6.78 x 10(-3) for 1880--1919. The temporal trend of inbreeding shows high values (alpha3 > 4.5 x 10(-3)) for a particularly long period (1900--1959) and a rapid decline from 1960 onward. This historical inbreeding trend is clearly related to changes in population size. The frequencies of multiple consanguineous marriages and the analysis of isonymy show that the inbreeding structure is related to geographic and demographic factors. Comparing the results at two hierarchical levels (La Cabrera as a whole and the 37 parishes individually), we conclude that the inbreeding values are affected by internal geographic subdivision of the population (Wahlund effect). Social and cultural factors, such as avoidance of or preference for consanguineous marriages, are less important but depend on the kinship type involved.     

Consanguineous marriage in a newly developed country: the Qatari population

This study examines the frequency of consanguineous marriage and coefficient of inbreeding in the State of Qatar. The study was conducted in semi-urban areas of Doha between January and May 2004. A sample of 1515 married Qatari females aged 15 years and over participated. The degree of consanguinity between each female and her spouse, and degree of consanguinity between their parents were recorded. The rate of consanguinity in the present generation was high (54.0%) with a coefficient of inbreeding of 0.02706. The commonest type of consanguineous marriage was between first cousins (34.8%). Double first cousin marriages were common (3.1%) compared with other populations. The consanguinity rate in the State of Qatar has increased from 41.8% to 54.5% in one generation.     

The Effect of Inbreeding on Mortality and Morbidity among Telugu-speaking Populations of Kharagpur, West Bengal, India

Increased mortality and morbidity including congenital malformations among the offspring of consanguineous marriages have been widely reported in human populations from different parts of the world. However, there are few studies on the effect of the intensity of inbreeding and different degrees of inbreeding on mortality and morbidity. The present study is an attempt to examine the effects of inbreeding on mortality and morbidity including congenital disorders in different levels of inbreeding among Telugu-speaking populations of Kharagpur, West Bengal, India, based on data collected through extensive pedigrees. The study reveals that the frequency of spontaneous abortions and stillbirths is higher in the offspring of consanguineous marriages than in that of non-consanguineous marriages. A similar effect is also observed in the infant mortality rate, which is known to have a genetic component, but is not seen in the mortality rate of children and juveniles. The rate of morbidity is consistently higher in the offspring of consanguineous marriages with a sex bias in favour of inbred females. The increased morbidity rates in inbred individuals tend to be inversely correlated with the increase in average autosomal inbreeding coefficient. This appears to strengthen Sanghvi’s hypothesis of a decline in the frequency of deleterious genes with intensification of inbreeding through generations. The present study also confirms an increase in genetic disorders with an increase in inbreeding in almost all populations.     

Migration as a determinant of marriage pattern: preliminary report on consanguinity among Afghans

Two sample populations, one refugee and one resident, were studied. The frequencies of consanguineous marriages came out to be 49.8%and 55.4%, respectively, for the refugees and the residents. Caste endogamy was dominant both in the residents and the refugees. The mean coefficient of inbreeding was calculated to be 0.0303 for the refugee population and 0.0332 for the resident population samples. First cousin marriage was the dominant type of marriage in both samples; father's brother's daughter (FBD) marriage was more frequent among the refugees while mother's brother's daughter(MBD) marriage was more frequent among the residents. Education has no decreasing effect on the incidence of consanguineous marriages. A significant difference in the pattern of marriages in the refugees is observed after the Saur Revolution of 1979.     

Prevalence and sociodemographic correlates of consanguineous marriages in Turkey

The aim of this study was to determine the prevalence and sociodemographic correlates of consanguineous marriages in Turkey using data derived from the 2003 Turkey Demographic and Health Survey (TDHS-2003). Demographic surveys conducted in the last 40 years consistently show that Turkey is a country with a high level of consanguinity. In the latest demographic survey (TDHS-2003), a nationally representative sample of 8075 ever-married women, consanguineous marriages accounted for 22% of the total, which is equivalent to a mean coefficient of inbreeding (alpha) of 0.011. There are changing secular profiles in the rates of consanguinity in general and of the specific sub-types of cousin marriages in particular in Turkey. The prevalence of first cousin marriages among all consanguineous marriages presents a steady decline from one marriage cohort to the next. The changes observed over time may be attributable to several factors such as the increase in educational level of women, the nuclearization of the family system, the mobility from rural to urban settings, a better socioeconomic status of families, an increase in women's labour force participation in formal sectors, lower fertility rates resulting in a smaller number of cousins available for marriage, and an increased awareness of the effects of consanguineous unions on child health in cases where there is an inherited recessive disease in the family. Any attempts to discourage consanguinity at the population level appear to be inappropriate and undesirable, especially when the consanguineous union remains an integral part of the cultural and social life of Turkey. Nevertheless the WHO-recommended approach to minimizing the negative effects of consanguinity on child health should be followed, i.e. the identification of families with a high risk of a genetic disease and the provision of prospective genetic counselling.     

Isolation and marriage patterns in four South Tyrolean villages (Italy) during the nineteenth century

No information is currently available on the marriage patterns of German-speaking communities of the South Tyrol area. The aim of this study is to investigate the reproductive isolation of four South Tyrolean mountain villages during the 19th century. Data about 3953 marriages were drawn from existing pedigrees and completed with data from the parish registers of the studied villages to calculate the following indicators: age at marriage, endogamy, inbreeding from dispensations and from isonymy and repeated pairs of surnames among couples. The results show high levels of endogamy (78-87%) and an elevated age at marriage in all the studied villages. The percentages of consanguineous marriages (10-33%) vary considerably but result overall in relatively low inbreeding values (alpha 0.0015-0.0036; Ft 0.0098-0.0138). Levels of endogamy are consistent with the geographic characteristics of the area, while inbreeding values are lower than those observed in previous studies on Alpine communities. This is due to a low frequency of marriages between close relatives, probably related to the peculiar demographic and cultural characteristics of the studied populations that differentiate them from neighbouring Italian-speaking villages.     

The prevalence of consanguineous marriages in an underserved area in Lebanon and its association with congenital anomalies

Background: Consanguinity is a recognized common practice among marriages in the Middle East. Many studies have suggested a strong association between first cousin marriages and the incidence of autosomal recessive diseases and congenital anomalies. The objectives of this study were to study the prevalence of consanguinity among the marriages of Bekaa (a region in Lebanon) with its sociodemographic correlates, and to assess the prevalence of congenital anomalies associated with these marriages. Methods: This study was a cross-sectional study done in three of the major areas of the Bekaa region. The sample size consisted of 552 households chosen based on proportionate random sampling according to population size in each area. The survey was conducted based on face-to-face interview with a member of the couples of each household. Results: The overall prevalence of consanguineous marriages was reported to be 42% with first cousin marriage constituting around 31% of the total marriages. No association was found between different socioeconomic status (SES) correlates and first cousin marriages. Results showed a significant association between first cousin marriage and mental retardation, physical retardation, bilateral cleft lip +/- cleft palate, cystic fibrosis, and congenital blindness. Conclusion: In a population with a high degree of inbreeding, the formulation of a public health program with multiapproach strategy, including education about the anticipated genetic consequences, prenatal diagnosis, neonatal screening, and genetic counseling, is a necessity.     

Trends of consanguineous marriages in a Sunni Muslim population of West Bengal, India

The Muslim population of the Chaltaberia village in the district of South 24 Parganas in West Bengal is divided into several wards (paras) inhabited by people of specific surnames. The frequency of endogamous marriages within surnames is greater than randomly expected ones. An incomplete reproductive isolation is observed among the five dominant surnames. Consanguineous marriages occur more often outside the village than inside. Leaving out marriages between long distances, a small median distance of 6.36 km is recorded. The neighborhood area works up to be 552.2 km2, which is rather small. There is an underlying process of breeding isolation by distance. A generation length of 21 years has been used for examining the temporal change in consanguineous marriages and inbreeding, which generally appears to increase. There is a general trend of decline in consanguineous marriages towards the southern part of West Bengal and eastern part of Assam among the Bengalee Muslims. The frequency of consanguineous marriages is 7.3% out of all marriages (N=1153) that have taken place in six generations in the population. The first cousin marriage is nearly 50% of all marriages. Patrilineal marriages are common in marriages between second and third cousins. An increase of consanguineous marriages in the younger generation was observed, but the total frequency agrees with a general trend of a decline in the frequency of consanguineous marriages among the Muslims in this part of India.     

The changing profile of consanguinity rates in Bahrain, 1990-2009

Consanguineous marriage is traditional and respected in most communities of North Africa, the Middle East and West Asia, including Bahrain, with intra-familial unions accounting for 20-50+% of all marriages. Significant secular changes in consanguinity rates have been reported in recent decades in different populations. Among parents of 14,237 newborns in Bahrain in 2008-2009, the total consanguinity and first cousin marriage rates over a period of four months in 2008 were 10.9% and 6.9% respectively, while during all of 2009 the rates were 11.4% and 6.8% respectively. The study confirms that over a ten-year period first cousin marriage rates in Bahrain have declined from 24% to nearly 7%. Although advice against cousin marriages was not attempted at any stage in the comprehensive community genetics programmes in Bahrain, increasing the literacy of the public and of the health care providers on prevention strategies for genetic diseases could have contributed to this decline in consanguinity rate in Bahrain.