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Split-hand/foot malformation (SHFM) is a congenital limb deformity due to the absence or dysplasia of central rays of the autopod. Six SHFM loci have already been identified. Here we describe a Chinese family with autosomal-dominant SHFM1 that has previously been mapped to 7q21.2-21.3. The two affected family members, mother and son, showed deep median(More)
Human leucocyte antigen (HLA)-G is an important molecule for maintaining an immunotolerant foetal-maternal relationship. A 14-bp insertion (+14-bp)/deletion (-14-bp) polymorphism in exon 8 of the 3' untranslated region of the HLA-G gene has been proposed to be associated with HLA-G mRNA stability and the expression of HLA-G. This might play an(More)
PURPOSE Genetic variation in fibroblast growth factor receptor 2 (FGFR2) is a newly described risk factor for breast cancer. This study aimed to evaluate the association of four single nucleotide polymorphisms (SNPs) in FGFR2 with breast cancer in Han Chinese women. METHODS Two hundred three women with breast cancer and 200 breast cancer-free age-matched(More)
OBJECTIVES The relative length of the second-to-fourth digits (2D:4D) has been linked with prenatal androgen in humans. A recent study shows that the 2D:4D ratio in mice is controlled by the balance of androgen to estrogen signaling during a narrow window of digit development. Androgen receptor (AR) activity is higher in digit 4 than in digit 2, and(More)
MicroRNA-155 (miR-155) was previously found involved in the development of systemic lupus erythematosus (SLE) and other autoimmune diseases and the inflammatory response; however, the detailed mechanism of miR-155 in SLE is not fully understood. To explore the in vivo role of miR-155 in the pathogenesis of SLE, miR-155-deficient Fas(lpr/lpr)(More)
Interferon (IFN) activation signaling and T helper 17 (Th17)-cell/B-cell regulation play a critical role in the pathogenesis of systemic lupus erythematosus (SLE). Several studies have provided convincing evidence that polymorphisms in IRF5, STAT4, IKZF1 and ETS1 from these pathways may be involved in SLE by affecting gene expression or epistasis. We(More)
INTRODUCTION ETS1 is a negative regulator of the Th17 differentiation gene and plays a central role in the pathogenesis of autoimmune diseases. We aimed to investigate whether polymorphisms in ETS1 confer susceptibility to ankylosing spondylitis (AS) in Han Chinese. METHODS We selected seven single nucleotide polymorphisms (SNPs) within ETS1 based on(More)
OBJECTIVE A genome-wide association study and 2 replication studies identified 2 single-nucleotide polymorphisms (SNP) of caspase recruitment domain-containing protein 9 (CARD9) and small nuclear RNA-activating complex polypeptide 4 (SNAPC4) at Chr 9q34.3 associated with ankylosing spondylitis (AS) in whites. We explored a possible association of SNP in(More)
OBJECTIVE To obtain the genetic polymorphism of Y chromosomal short tandem repeat (Y-STR) loci in Ningxia Hui population. METHODS Blood samples were collected from 150 unrelated healthy male individuals of Ningxia Hui ethnic group. Twelve Y-STR loci were amplified in one tube by using the PowerPlex System STR Amplification Kit, and the genotypes were(More)
OBJECTIVE To investigate the relationship between the -308G/A, -857C/T and -1031T/C of tumor necrosis factor alpha gene (TNF- alpha), -174G/C and -572C/G of interleukin-6 gene (IL-6) polymorphisms and schizophrenia. METHODS Genomic DNA was isolated from the venous blood leukocytes of 346 unrelated patients with schizophrenia and 323 healthy unrelated(More)