Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome,a renal-hepatic-pancreatic dysplasia

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Genetics of intervertebral disc disease: A review

Intervertebral disc disease (IVDD) is a common musculoskeletal disease affecting about 5% of all individuals. It is characterized by lumbar disc herniation, which causes nerve root irritation, either mechanically or via inflammatory mediators, and results in radiating pain, known as sciatica. Numerous studies have been conducted to identify the causes and risk factors for IVDD. Lifting heavy loads, torsional stress, and motor vehicle driving are among the best-identified environmental risk factors. However, it has become evident recently from family and twin studies that genetic factors may also be important in IVDD. This hypothesis was strengthened by the identification of two collagen IX alleles associated with sciatica and lumbar disc herniation. In addition, disc degeneration has been shown to be related to an aggrecan gene polymorphism, a Vitamin D receptor and matrix metalloproteinase-3 gene alleles. This review highlights the genetic role and occupational aspects of IVDD.     

The Chinese National Twin Registry: a ‘gold mine’ for scientific research

The Chinese National Twin Registry (CNTR) currently includes data from 61 566 twin pair from 11 provinces or cities in China. Of these, 31 705, 15 060 and 13 531 pairs are monozygotic, same‐sex dizygotic and opposite‐sex dizygotic pairs, respectively, determined by opposite sex or intrapair similarity. Since its establishment in 2001, the CNTR has provided an important resource for analysing genetic and environmental influences on chronic diseases especially cardiovascular diseases. Recently, the CNTR has focused on collecting biologic specimens from disease‐concordant or disease‐discordant twin pairs or from twin pairs reared apart. More than 8000 pairs of these twins have been registered, and blood samples have been collected from more than 1500 pairs. In this review, we summarize the main findings from univariate and multivariate genetic effects analyses, gene–environment interaction studies, omics studies exploring DNA methylation and metabolomic markers associated with phenotypes. There remains further scope for CNTR research and data mining. The plan for future development of the CNTR is described. The CNTR welcomes worldwide collaboration.     

Excavating the Personal Genome: The Good Biocitizen in the Age of Precision Health

The rise of genomic technologies has catalyzed shifts in the health care landscape through the commercialization of genome sequencing and testing services in the genomics marketplace. The development of consumer genomics into a growing array of information technologies aimed at collecting, curating, and broadly sharing personal data and biological materials reconstitutes the meaning of health and reframes patients into biocitizens. In this context, the good biocitizen is expected to assume personal responsibility for health through consumption of genomic information and acquiescence to public and private efforts at data surveillance and aggregation. These shifts raise fundamental questions about how competing interests of the public, the state, and corporate entities will be reconciled and what trade-offs are demanded for the promise of precision health.     

Genetic diversity of HLA system in a population from Guerrero,Mexico

We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 144 Mexicans from the state of Guerrero to obtain information regarding allelic and haplotypic frequencies. We find that the ten most frequent haplotypes in the state of Guerrero include eight Native American and two European haplotypes. Admixture estimates revealed that the main genetic components in the state of Guerrero are Native American (61.36 ± 2.69% by ML; 54.17% of Native American haplotypes) and European (35.01 ± 4.59% by ML; 32.29% of European haplotypes), and a relatively low African genetic component (3.63 ± 2.38% by ML; 5.90% of African haplotypes).