Calpain-10 (CAPN10) protein may play a role in glucose metabolisms, pancreatic beta-cell insulin secretion and thermogenesis. Emerging evidence has implicated a role of CAPN10 genetic variants in the risk of type 2 diabetes mellitus (T2DM). Previous association studies, however, have focussed only on several variants initially reported and provided inconsistent results. We conducted a large nes...

Different human leukocyte antigen (HLA) haplotypes (i.e., the specific combinations of HLA-A, -B, -DR alleles inherited together from one parent) are observed in different frequencies in human populations. Some haplotypes, like HLA-A1-B8, are very frequent, reaching up to 10% in the Caucasian population, while others are very rare. Numerous studies have identified associations between HLA haplo...

CONTEXT Tryptophan hydroxylase 2 (TPH2) encodes the rate-limiting enzyme for brain serotonin biosynthesis. It was recently reported that the TPH2 haplotype was linked to depression in humans. OBJECTIVE To determine the association of TPH2 with suicide attempt, major depression, and a neurochemical intermediate phenotype, cerebrospinal fluid 5-hydroxyindoleacetic acid. DESIGN We resequenced ...

The killer cell immunoglobulin-like receptors (KIR) mediate human natural killer (NK) cell cytotoxicity via activating or inhibiting signals. Although informative and functional haplotype patterns have been reported, most genotyping has been performed at resolutions that are structurally ambiguous. In order to leverage structural information given low-resolution genotypes, we performed experime...

The aim of our study was to analyze the reproduction dynamics and fertility rates Ayrshire cattle population in Russia assess level influence AH1 haplotype on incidence stillbirth. For an overall estimate, we used 390,769 records 67 dairy herds from 2003 2018. Against background stable growth, average stillbirth rate 3.33% abortion 0.075%. A high percentage (5.13%) heifers first fertilization e...

mannose-binding lectin (mbl) is a ca⁺² -dependent collagenous lectin, that is produced by liver and mediates innate immune responses by opsonization of pathogens. the serum level of mbl varies widely among healthy individuals, ranging from 0.05 µg/ml (or lower) to over 5 µg/ml, mainly depending on genetic variation. this study has examined promoter and exon 1 of mbl2 genotype among 117 iranian ...

We split each autosome in to non-overlapping segments of 80 SNPs and a new version of PHASE (v2.1) that deals with father-mother-child trios was applied to each segment in turn. We used the default settings of PHASE and took the most likely haplotype reconstruction returned by the program as the infered haplotypes. To link the haplotypes from each segment back together we used the information a...

Several tests of neutral evolution employ the observed number of segregating sites and properties of the haplotype frequency distribution as summary statistics and use simulations to obtain rejection probabilities. Here we develop a "haplotype configuration test" of neutrality (HCT) based on the full haplotype frequency distribution. To enable exact computation of rejection probabilities for sm...