Genetic Variants in the ELOVL5 but not ELOVL2 Gene Associated with Polyunsaturated Fatty Acids in Han Chinese Breast Milk

The present study was designed to examine the contributions of the fatty acid elongase （ELOVL） gene polymorphisms to the levels of polyunsaturated fatty acids （PUFAs） in breast milk. Two hundred and nine healthy Han Chinese mothers were included in the study. Carriers of minor alleles of SNPs （rs2397142 and rs9357760） in ELOVL5 were associated with higher levels of linoleic acid （LA）, dihomo-γ-linolenic acid （DGLA）, arachidonic acid （AA）, docosatetraenoic acid （DTA）, docosahexenoic acid （DHA）, while in rs209512 of ELOVL5 the carriers of minor alleles had lower levels of DTA compared to major homozygote alleles （P ranged from 0.004-0.046）, and genetically explained variability ranged from 3.2% for eicosapentaenoic acid （EPA） to 6.0% for LA. Our findings demonstrated that common variation in ELOVL5 gene encoding rate-limiting enzymes in the metabolism of PUFAs contribute to the PUFAs in breast milk.

The Association Between Epoxide Hydrolase Genetic Variant and Effectiveness of Nicotine Replacement Therapy in a Han Chinese Population

Dear Editor, Nicotine is a psychoactive alkaloid that is thought to play a key role in addiction to commercial tobacco products [1] and cotinine is its primary metabolite [2]. Pharmacological treatment, such as nicotine replacement therapy （NRT）, is a valid solution to this problem. Tobacco smoke contains many carcinogens such as nitrosamines .

A Novel MYCN Variant Associated with Intellectual Disability Regulates Neuronal Development

The V-MYC avian myelocytomatosis viral-related onco- gene, a neuroblastoma-derived gene （MYCN, MIM： 164840） located on chromosome 2p24, was previously found to be associated with Feingold syndrome 1 （FGLDS1, MIM： 164280） [1]. FGLDS1 is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disabilities. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients [2]. Despite the involvement of intellectual disability in FGLDS1, the molecular mechanisms of the MYCN gene in regulating brain development remain largely unclear.Some truncated mutations in the N terminus of the MYCN have been identified in FGLDS1 [1, 3].

Genetic studies of schizophrenia:an update

Schizophrenia（SCZ） is a complex and heterogeneous mental disorder that affects about 1% of global population. In recent years,considerable progress has been made in genetic studies of SCZ. A number of common variants with small effects and rare variants with relatively larger effects have been identifi ed. These variants include risk loci identifi ed by genome-wide association studies,rare copy-number variants identifi ed by comparative genomic analyses,and de novo mutations identified by high-throughput DNA sequencing. Collectively,they contribute to the heterogeneity of the disease. In this review,we update recent discoveries in the fi eld of SCZ genetics,and outline the perspectives of future directions.