PURPOSE Studies have shown a strong association of human leukocyte antigens-B51 (HLA-B51) with Behçet's disease (BD). However, little is known about the association of non-HLA genes with BD. The polymorphisms of the Fc receptor-like 3 gene (FCRL3), -169C/T, -110A/G, +358C/G, and +1381A/G, have been reported to be associated with several autoimmune diseases. This study was designed to determine ...

BACKGROUND Altered sensitivity to multiple antimalarial drugs is mediated by polymorphisms in pfmdr1, which encodes the Plasmodium falciparum multidrug resistance transporter. In Africa the N86Y and D1246Y polymorphisms have been shown to be selected by treatment, with artemether-lumefantrine (AL) and dihydroartemisinin-piperaquine (DP) selecting for wild-type and mutant alleles, respectively. ...

Structural rearrangements, including copy-number alterations and inversions, are increasingly recognized as an important contributor to human genetic variation. Copy number variants are readily measured via array-based techniques like comparative genomic hybridization, but copy-neutral variants such as inversion polymorphisms remain difficult to identify without whole genome sequencing. We intr...

Several statistical methods have been proposed to estimate haplotype frequencies, either based on unrelated individuals or based on families. These estimates may yield insights on population genetics as well as associations between candidate regions and disease of interest. One limitation of the existing methods is that all these methods make the implicit assumption that there are no genotyping...

In association mapping, haplotype-based methods are generally regarded to provide higher power and increased precision than methods based on single markers. For haplotype-based association mapping most studies use a fixed haplotype effect in the model. However, an increase in haplotype length raises the number of parameters in the model, resulting in low accuracy of the estimates especially for...

BACKGROUND Human mannose-binding lectin (MBL) is a serum lectin taking part in the innate immunity by opsonizing various microorganisms for phagocytosis. The MBL serum concentration is affected by several single-nucleotide polymorphisms (SNPs) in the promoter region of the MBL2 gene. OBJECTIVE The purpose of this study was to examine the relationship between MBL2 polymorphisms and atopic derm...

osteoporosis is a metabolic bone disease affecting mostly elderly women. as metabolizing enzymes, the roles of few cytochromes have been studied in osteoporosis development. the aim of this study was to assess for the first time the association of cyp2e1 and cyp1a1 polymorphisms and osteoporosis in postmenopausal women. 112 postmenopausal women presenting osteoporosis and 93 age and sex matched...

common variable immunodeficiency (cvid) is a heterogeneous heritable disease characterized by arrest in b cell differentiation. an association between cvid and two hla haplotypes, haplotype i (hla-a1, hla-b8, hla-dr3) and haplotype ii (hla-a29, hla-b44, hladr7)has been previously documented. in the present study, we have attempted to find an association between susceptibility to cvid and hla cl...