Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers.

Hb F production is under the influence of major quantitative trait loci (QTL). The present study aims: i) to replicate the association with Hb F for representative genetic variants in the three major Hb F QTLs in a Portuguese sample of β-thalassemia (β-thal) carriers; and ii) to test different genetic multi-locus models to account for the genetic component of Hb F variation. A population sample of 79 Portuguese β-thal carriers (39 males, 40 females), aged between 2 to 70 years old, were genotyped for polymorphisms in the locus control region (LCR)-5' hypersensitive site 4 (5'HS4) rs16912979, I- rs7482144, rs1427407 and HMIP rs66650371, using standard biomolecular procedures.

Association study of variants in genes FTO, SLC6A4, DRD2, BDNF and GHRL with binge eating disorder (BED) in Portuguese women.

A population based case-control study was conducted in Portuguese women with overweight/obesity to investigate the possible association of variants in genes FTO, SLC6A4, DRD2, BDNF and GHRL with binge eating disorder (BED). The distribution of seven polymorphisms was evaluated in 31 BED patients and 62 controls. No significant associations were found between polymorphisms and BED.

Distribution of the - 13910C>T polymorphism in the general population of Portugal and in subjects with gastrointestinal complaints associated with milk consumption.

Background: The - 13910C>T polymorphism has been associated with lactase persistence (LP) in European populations.

Aim: To assess - 13910C>T genotypes across Portugal and in adult individuals with unspecific gastrointestinal complaints associated with milk consumption.

Subjects And Methods: This study genotyped - 13910C>T in the general population from Northern (n = 64), Central (n = 70) and Southern (n = 65) Portugal and in 40 subjects with gastrointestinal symptoms.