An abnormal concentration of cases of Rendu-Osler disease in the Valserine valley of the French Jura: a genealogical and demographic study

Abstract

An important concentration of patients with Rendu-Osler disease occurs in the Valserine valley of the French Jura. A study of marriages shows that, in spite of its somewhat remote location, the valley cannot be considered an isolate, but that, on the contrary, exogamy is widely practised. Only 17.8% of the genes of inhabitants during the present century can be traced to the original population, but persons affected with the disease belong to a subgroup of the population which has lived in the villages for more than 10 generations. All the patients in 85 sibships are related. The smallest number of originator couples who lived at the beginning of the eighteenth century amounts to 16, the unique originator may therefore have lived approximately four generations earlier. However, as other patients who lived at the periphery of the Valserine valley do not appear to be related to any patients living in the valley, and because there has been considerable immigration into the valley, a number of hypotheses to explain the distribution of the disease in the region remain possible.

New method for surname studies of ancient patrilineal population structures, and possible application to improvement of Y‐chromosome sampling

“…We suggest that regional studies of the genetic variability of Y-chromosome markers are weakened by a considerable bias, since the present population of a given area is not representative of the surname-founding population, and as a consequence, is even less representative of the population of previous times. This discovery confirms, on a wider scale, a previous case study on a small, geographically isolated population (Valserine, France), where only 17.8% of the genes of the present population can be traced to the 16th century population (Bideau et al, 1992;Heyer, 1993). Similar values were obtained by Biraben (2002, personal communication), since only a low percentage of the present French population was demonstrated to descend from the population living in the same department in the 18th century.…”

Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

“…Careful epidemiological studies reveal that it affects approximately 1 in 5,000 individuals, 4,5 with regional differences, 6 and isolated communities displaying higher prevalences due to founder effects. 7 8 HHT was first described as a familial disease characterised by severe recurrent nasal and gastrointestinal bleeding with associated anaemia, and visible dilated blood vessels (telangiectasia) on the lips and finger tips.…”

Evidence of sex–linked effects on the inheritance of human longevity: a population–based study in the Valserine valley (French Jura), 18–20th centuries

“…Individuals on this database can be linked to each other through kinship networks. This database was implemented on the initiative of Bideau and Plauchu (Bideau et al 1992) and was aimed at studying the transmission of Rendu^Osler disease, a rare benign autosomal-dominant vascular disorder.…”