Association of vitamin D receptor gene polymorphism with type 1 diabetes mellitus in two Spanish populations

Medicina clínica
Gertrudis MartíAntonio Carrascosa

Abstract

In order to assess whether vitamin D receptor gene polymorphisms are involved in the genetic regulation of type 1 diabetes susceptibility, a case-control study was conducted in two Spanish populations with different genetic backgrounds. 155 patients with childhood-onset type 1 diabetes and 280 healthy controls from Barcelona, and 89 patients and 116 controls from Navarre were studied for vitamin D receptor gene polymorphisms in peripheral blood DNA. Intron 8 (BsmI) and exon 2 (FokI) segments were amplified by PCR and sequenced to determine each corresponding genotype. Differences for allele, genotype and combined haplotype and genotype distribution between patients and controls within each population and between the two populations were analyzed. BsmI genotype and allele frequencies showed a tendency towards increased bb genotype and b allele frequencies in Barcelona patients and the tendency was inverse in Navarre. FokI polymorphism distribution analysis showed a significant decrease in ff genotype (p = 0.016) in patients versus controls from Navarre. Combined genotypes showed homozygous bb/FF genotype to be increased in Barcelona patients (p = 0.04) whereas homozygous bb/ff genotype was decreased in Navarre patients (p = 0.02...Continue Reading

Citations

Nov 11, 2005·Thyroid : Official Journal of the American Thyroid Association·Elizabeth Ramos-LopezKlaus Badenhoop
Jun 15, 2011·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Shilan AslaniFarzaneh Karimi
Apr 11, 2013·International Journal of Endocrinology·Marlene Chakhtoura, Sami T Azar

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