The genetic heterogeneity can lead to heterogeneous drug responses among individuals, such as less efficacy or unwanted side effects of drug therapy. Moreover, the ethnic/genetic diversity also affects the effective prescription. Here, we investigated the genetic diversity of 282 ADME genes in five northwestern Chinese minority populations which are all admixed people with ancestry contributions […]
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A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia
Spinocerebellar ataxias (SCAs) are a group of genetically diverse neurodegenerative disorders causing cerebellar degeneration and progressive ataxia. We identified an autosomal dominant SCA family (SCA40) which displays typical cerebellar ataxia signs and pontocerebellar atrophy. By performing whole-exome sequencing on multiple members of this family, we found a novel missense mutation in the gene CCDC88C in […]
Human transgenerational responses to early-life experience: potential impact on development, health and biomedical research
This Position Paper draws together the emerging evidence that the early life experience of parents and/or ancestors can influence development and common disease risk in the current generation, with the aim of promoting human transgenerational research . The few human observational studies reported to date of the effects of ancestral exposures (such as nutrition or […]
Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance
Prevalence of osteoarthritis (OA), a disabling disease of the joints, increases with age which is expected to become a major problem in health care given the growing elderly population and the poor treatment options. Research to apply potential biomarkers such as serum COMP or urinary CTX-II to monitor OA is promising. However, adequate discrimination between […]
Long-term prospective clinical follow-up after BRCA1/2 presymptomatic testing: BRCA2 risks higher than in adjusted retrospective studies
The risks of breast cancer associated with gene faults in BRCA1 and BRCA2 have been reported to vary from as little as 30% (especially BRCA2) to as high as 90% by age 70 years. However, most studies that assessed risk look backwards at what has happened in families rather than forwards. These studies make adjustments […]
High Risk of Tobacco-Related Cancers in CDKN2A Mutation-Positive Melanoma Families
In this study we have investigated cancer risks in members of Swedish melanoma-prone families with an inherited mutation in the tumor suppressor gene CDKN2A. We find significantly increased risks among carriers not only for melanoma but also for non-melanoma cancers, in particular pancreatic, lung, head and neck and gastro-esophageal cancers. We show a positive association […]
A genome-wide association study of serum levels of prostate-specific antigen in the Japanese population
Prostate specific antigen (PSA) is a useful marker for screening of prostate cancer (PCa), one of the leading causes of death in the world. Here, we showed that two genetic variants in SLC45A3 and KLK3 genes are significantly associated with PSA levels in the Japanese population. The association of SLC45A3 was not known in Japanese. […]
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6
The most common spinocerebellar ataxias (SCA), SCA1, SCA2, SCA3 and SCA6, are caused by a (CAG)n repeat expansion with a correlation between the number of repeats of the coding (CAG)n expansions and age at onset. We combined data from two major European cohorts of SCA1-3 and SCA6 carriers: affected individuals from the EUROSCA registry and […]
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly
Mutations in GLI2 have been associated with holoprosencephaly (HPE), a neuroanatomic anomaly resulting from incomplete cleavage of the developing forebrain, and an HPE-like phenotype involving pituitary anomalies and polydactyly. We collected the largest sample to date of individuals with variants affecting GLI2 and characterized their phenotype. This included previously published cases as well as new […]
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma
Retinitis pigmentosa is a group of genetically inherited eye diseases which represents the most frequent cause of inherited blindness worldwide. Persons with retinitis pigmentosa experience night blindness, which is followed by tunnel vision due to the progressive degeneration of the light sensing cells called rods and cones. Approximately 60 different genes can be defective in […]