STAT2*C related genotypes and allele but not TLR4 and CD40 gene polymorphisms are associated with higher susceptibility for asthma

[[abstract]]Objective: Asthma is caused by a complex interaction between multiple genes and environmental factors. Herein we aimed to investigate whether signal transducer and activator of transcription (STAT2), toll-like receptors 4 (TLRs4) and CD40-related polymorphisms are associated with asthma susceptibility. Design: Children were divided: (1) asthma (n=117); (2) normal controls (n=60). The polymorphisms of STAT2, TLR4 and CD40 polymorphism were analyzed by PCR-RFLP genotyping. Genotypes, allelic frequencies and association of haplotypes in both groups were compared. Results: STAT2*C related genotypes, but not TLR4 and CD40 polymorphism, are associated with higher susceptibility for asthma. Distributions of STAT2*CC/CG/GG and C/G allele in both groups are: (1) 0/11.1/88.9% and 5.6/94.4%; (2) 0/1.7/98.3% and 0.8/99.2% (p<0.05). Proportions of TLR4*rs10983755 AA/AG/GG and rs1927914 CC/CT/TT homozygote are: (1) 35.1/8.5/56.4% and 9.4/56.4/34.2%; (2) 35/8.3/56.7% and 16.7/48.3/35% (non-difference). Proportions of CD40*rs1883832 CC/CT/TT, rs3765459 AA/AG/GG, and rs4810485 TT/GT/GG are: (1) 29.9/53/17.1%, 6.8/47.9/45.3 and 18.8/62.4/18.8%; (2) 36.7/41.7/21.6%, 1.6/46.7/51.7 and 15/51.7/33.3% (non-difference). Haplotype analyses for TLR4 and CD40 genes revealed their non-association and non-additional effect upon asthma susceptibilities. Conclusion: STAT2*C related genotypes and alleles are associated with asthma susceptibilities and pathogenesis. There were non-association and non-additional effects of TLR4/CD40 gene polymorphisms and haplotypes upon asthma risk

X-ray repair cross-complementing group 4 (XRCC4) promoter-1394*T-related genotype, but not XRCC4 codon 247/intron 3 or xeroderma pigmentosum group D codon 312, 751/promoter-114, polymorphisms are correlated with higher susceptibility to myoma

[[abstract]]Objective: To investigate whether the DNA repair genes, X-ray repair cross-complementing group 4 (XRCC4) and xeroderma pigmentosum group D (XPD), could be useful markers for predicting leiomyoma susceptibility. Design: Prospective study. Setting: Departments of gynecology and genetics in medical center. Patient(s): Women were divided into leiomyoma (n = 120) and nonleiomyoma groups (n = 112). Intervention(s): XRCC4 (codon 247, promoter-1394, intron 3) and XPD (codon 312, codon 75 1, promoter - 114) polymorphisms were genotyped by polymerase chain reaction with restriction enzyme digestions. Main Outcome Measure(s): Genotypes and allelic frequencies in both groups were compared. Result(s): XRCC4 promoter - 1394*T-related genotype/alleles were associated with higher susceptibility of leiomyoma. Proportions of XRCC4 promoter -1394*T homozygote/heterozygote/G homozygote and T/G alleles were [1] 91.7%/6.7%/1.7% and 95%/5% and [2] 79.4%/17.9%/2.7% and 88.4%/11.6%, respectively. Five other single nucleotide polymorphisms were not correlated with leiomyoma susceptibilities. Proportions of XRCC4 codon 247*CC/CA/AA and XRCC4 intron 3*Pi/ID/DD were [1] 95%/50%/0% and 72.5%/23.3%/4.2% and [2] 97.3%/2.7%/0 and 70.5%/24.1%/5.4%. Proportions of XPD codon 312*GG/GA/AA, XPD codon 75 1 *TT/TG/ GG, and XPD promoter -114*GG/GC/CC were [1] 65%/22.5%/12.5%, 92.5%/6.7%/0.8%, and 22.5%/46.7%/ 30.8%; and [2] 64.3%/22.3%/13.4%,92%/7.1%/0.9%, and 23.2%/46.4%/30.4%. Conclusion(s): XRCC4 promoter -1394*T-related genotype/alleles are associated with higher susceptibility of leiomyoma, whereas XRCC4 codon 247, XRCC4 intron 3, XPD codon 312, XPD codon 75 1, and XPD promoter - 114 polymorphisms are not correlated with its development

Magnetic Interaction between Surface Engineered Rare-earth Atomic Spins

We report the ab initio study of rare-earth adatoms (Gd) on an insulating surface. This surface is of interest because of previous studies by scanning tunneling microscopy showing spin excitations of transition metal adatoms. The present work is the first study of rare-earth spin-coupled adatoms, as well as the geometry effect of spin coupling, and the underlying mechanism of ferromagnetic coupling. The exchange coupling between Gd atoms on the surface is calculated to be antiferromagnetic in a linear geometry and ferromagnetic in a diagonal geometry, by considering their collinear spins and using the PBE+U exchange correlation. We also find the Gd dimers in these two geometries are similar to the nearest-neighbor (NN) and the next-NN Gd atoms in GdN bulk. We analyze how much direct exchange, superexchange, and RKKY interactions contribute to the exchange coupling for both geometries by additional first-principles calculations of related model systems