The international biological program/human adaptability studies among the Skolt Sami in Finland (1966-1970).

Background: The population is increasingly lighter pigmented moving in a northward direction in Europe until reaching the Arctic Circle, where the Samis (Lapps) are clearly more pigmented.

Methods: In 1966-1970, we investigated a total of 689 subjects in the villages of Sevettijärvi and Nellim, including persons with mixed Sami and Finnish heritage; of these, 487 (242 males, 245 females) had both parents classified as Skolt Sami. For estimation of the colour of the iris and hair, international scales were used.

Association of LOXL1 gene with Finnish exfoliation syndrome patients.

In this study, three single-nucleotide polymorphisms (SNPs) on the lysyl oxidase-like 1 (LOXL1) gene associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) were investigated in the Finnish population. A case-control study of 59 sporadic patients with XFS, 82 with XFG, 71 with primary open-angle glaucoma (POAG) and 26 individuals without these disorders from the southern Finnish population, and a family study of an extended family with 28 patients with XFS or XFG and 92 unaffected relatives from Kökar islands, Southwestern Finnish archipelago, were conducted. Anonymous blood donors (n=404) were studied as population-based controls.

Genome-wide scan of exfoliation syndrome.

Purpose: Exfoliation syndrome (XFS) is an age-related ocular condition that is characterized by the accumulation of fibrillogranular extracellular material in intra- and extraocular tissues. The purpose of the present study was to identify the genetic basis of XFS in a large Finnish family.

Methods: A genome-wide scan with 1000 microsatellite markers was performed in an extended family from an island in the southwestern Finnish archipelago where XFS demonstrates an autosomal dominant mode of inheritance with incomplete penetrance.

Exfoliation syndrome: prevalence and inheritance in a subisolate of the Finnish population.

Purpose: To estimate the prevalence of pseudoexfoliation syndrome or exfoliation syndrome (ES) in a cross-sectional study and during a long-term follow-up, and to analyse how ES has been inherited in a large pedigree on an isolated population of Kökar island in southern Finland.

Methods: In a population-based study conducted between 1960 and 1962, a comprehensive ophthalmological examination was performed on 595 subjects (85% of the population). From then until 2002, 965 subjects were examined at least once.

A novel CACNA1F gene mutation causes Aland Island eye disease.

Purpose: Aland Island eye disease (AIED), also known as Forsius-Eriksson syndrome, is an X-linked recessive retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, protan color vision defect, progressive myopia, and defective dark adaptation. Electroretinography reveals abnormalities in both photopic and scotopic functions. The gene locus for AIED has been mapped to the pericentromeric region of the X-chromosome, but the causative gene is unknown.