Association of Food Desert Residency and Preterm Birth in the United States.

Introduction: Food deserts are a major public health concern. Inadequate access to healthy food has been associated with poor nutrition and the development of dietary related chronic conditions.

Objective: To determine the association between geographic access to nutritious food and preterm birth and whether gestational hypertension mediates this relationship.

Maternity Care Deserts in Louisiana and Breastfeeding Initiation.

Background: Breastfeeding provides physical, psychological, and immunological benefits to both the mother and infant, but breastfeeding rates are suboptimal. The purpose of this study was to examine whether residing in a maternity care desert (a county with no hospital offering obstetric care and no OB/GYN or certified nurse midwife providers) was associated with lower breastfeeding rates among birthing people in Louisiana from 2019 to 2020.

Methods: Data provided by the March of Dimes were used to classify Louisiana parishes by level of access to maternity care.

Variants in ZNF365 isoform D are associated with Crohn's disease.

Objective: Genome-wide association studies have identified multiple Crohn's disease (CD) susceptibility loci, including association with non-coding intergenic single-nucleotide polymorphisms (SNPs) at 10q21.

Design: To fine-map the 10q21 locus, the authors genotyped 86 SNPs in 1632 CD cases and 961 controls and performed single-marker and conditional analyses using logistic regression.

Results: Association with CD risk spanning 11 SNPs (p<0.

Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.

Genetic variation in both innate and adaptive immune systems is associated with Crohn's disease (CD) susceptibility, but much of the heritability to CD remains unknown. We performed a genome-wide association study (GWAS) in 896 CD cases and 3204 healthy controls all of Caucasian origin as defined by multidimensional scaling. We found supportive evidence for 21 out of 40 CD loci identified in a recent CD GWAS meta-analysis, including two loci which had only nominally achieved replication (rs4807569, 19p13; rs991804, CCL2/CCL7).

Genetic epistasis of IL23/IL17 pathway genes in Crohn's disease.

Background: The IL23/IL17 pathway is pivotal in the development of chronic mucosal inflammation seen in Crohn's disease (CD). Genetic variants in the IL23R and IL12B have been associated with CD susceptibility. We investigated 10 genes within the IL23/IL17 pathway in a case-control study of 763 CD cases and 254 healthy controls.

MAGI2 genetic variation and inflammatory bowel disease.

Background: Despite recent advances the majority of inflammatory bowel disease (IBD) susceptibility 'genes' remain undiscovered. Recent data suggest that autoimmune conditions may 'share' susceptibility loci. Epidemiological evidence indicates an association between celiac disease and IBD and both conditions demonstrate increased gut permeability.

IL23R haplotypes provide a large population attributable risk for Crohn's disease.

Background: The IL-23 pathway plays a pivotal role in the development of chronic mucosal inflammation seen in the inflammatory bowel diseases. Multiple studies have now established the contribution of the interleukin 23 receptor gene (IL23R) to Crohn's disease (CD) risk in general and of the IL23R R381Q variant in particular. The aim of this work was to estimate the total contribution of this gene to CD risk test using a haplotype approach.

GDF5 is a second locus for multiple-synostosis syndrome.

Multiple-synostosis syndrome is an autosomal dominant disorder characterized by progressive symphalangism, carpal/tarsal fusions, deafness, and mild facial dysmorphism. Heterozygosity for functional null mutations in the NOGGIN gene has been shown to be responsible for the disorder. However, in a cohort of six probands with multiple-synostosis syndrome, only one was found to be heterozygous for a NOGGIN mutation (W205X).

A transcriptional profile of human fetal cartilage.

Cartilage plays a central role in the patterning and growth of the skeletal elements, and mutations in genes expressed in cartilage are responsible for at least 250 distinct clinical conditions, the osteochondrodysplasias. While recent progress has been made in characterizing the genes that define cartilage biology, there are only limited data describing the gene expression profile of human cartilage. Here we describe the sequences and identities of 6266 clones from an 18-20-week human fetal cartilage cDNA library.

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

The filamins are cytoplasmic proteins that regulate the structure and activity of the cytoskeleton by cross-linking actin into three-dimensional networks, linking the cell membrane to the cytoskeleton and serving as scaffolds on which intracellular signaling and protein trafficking pathways are organized (reviewed in refs. 1,2). We identified mutations in the gene encoding filamin B in four human skeletal disorders.

Isolation of a new member of the ADP-ribosylation like factor gene family, ARL8, from a cartilage cDNA library.

ADP-ribosylation factors (ARFs) and ARF-like proteins (ARLs) are part of the ARF family within the RAS superfamily of regulatory GTPases. Guanine nucleotide binding proteins or GTPases are involved in a diverse spectrum of cellular activities, including regulating cell growth and signal transduction, organization of the cytoskeleton and regulating membrane trafficking along the exocytic and endocytic pathways. ARL proteins share 40-60% sequence identity with the ARF proteins, but ARLs can be distinguished from ARFs based on expression patterns and biological functions.

Analysis of clones from a human cartilage cDNA library provides insight into chondrocyte gene expression and identifies novel candidate genes for the osteochondrodysplasias.

To begin to define the gene expression pattern in fetal cartilage and to identify uncharacterized candidate genes for the osteochondrodysplasias, we analyzed clones from a fetal cartilage cDNA library. Sequence analysis of 420 cDNA clones identified 210 clones derived from established genes but, for many of them, expression in cartilage had not been previously reported. Among the established genes were 14 genes known to produce skeletal abnormalities in either humans or mice when mutated.

Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.

Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest. We performed a genomewide scan in a consanguineous family from Guam and found evidence of linkage to loci on chromosome 18q12.