Association between EFHD2 gene polymorphisms and schizophrenia among the Han population in northern China

Abstract

Objective Schizophrenia is a severe neurodevelopmental disorder with a complex genetic and environmental etiology. The gene encoding EF-hand domain-containing protein D2 ( EFHD2) may be a genetic risk locus for schizophrenia. Methods We genotyped four EFHD2 single-nucleotide polymorphisms (281 schizophrenia cases [SCZ], 321 controls) from northern Chinese Han individuals using Sanger sequencing and polymerase chain reaction-restriction fragment length polymorphism analysis. Differences existed in genotype, allele, and haplotype frequency distributions between SCZ and control groups. Results The rs2473357 genotype and allele frequency distributions differed between SCZ and controls; however, this difference disappeared after Bonferroni correction. Differences in rs2473357 genotype and allele frequency distributions between SCZ and controls were more pronounced in men than in women. The G allele increased schizophrenia risk (odds ratio = 1.807, 95% confidence interval = 1.164–2.803). Among six haplotypes (G–, A–, G-insC, A-C, G-C, and G-T), the G– haplotype frequency distribution differed between SCZ and controls in women; the A-C and G-C haplotype frequency distributions differed between SCZ and controls in men. Conclusions EFHD2 may be involved in schizophrenia. Sex differences in EFHD2 genotype and allele frequency distributions existed among schizophrenia patients. Further research is needed to determine the role of EFHD2 in schizophrenia.

The Candidate Schizophrenia Risk Gene Tmem108 Regulates Glucose Metabolism Homeostasis

“…For SCZ, genetic factors from the family are one of the leading causes, implying at least one risk gene in this family (33,34). However, environmental factors also contribute to the onset of SCZ (35,36), and the environmental factors take effect because of the risk gene existence, such as Tmem108.…”

“…However, environmental factors also contribute to the onset of SCZ (35,36), and the environmental factors take effect because of the risk gene existence, such as Tmem108. The environmental factors may take part in the diseases through many routes, directly or indirectly interacting with the risk genes (33,34,37), and whether direct or indirect interaction between Tmem108 and SCZ is unclear.…”

Swiprosin-1 deficiency in macrophages alleviated atherogenesis

“…It has been demonstrated that swiprosin-1 has a role in apoptosis, cell motility, spreading, migration, invasion, metastasis, actin-bundling or cross-linking, immune cell activation, brain cell functions, and so on [ 6 , 13 – 18 ]. Its expression is upregulated in many acute and chronic inflammatory diseases such as sepsis [ 19 ], passive cutaneous anaphylaxis and atopic dermatitis [ 9 ], Alzheimer’s disease [ 20 , 21 ], dementia [ 22 ], schizophrenia [ 16 , 23 ], diabetic nephropathy [ 24 , 25 ], and cancer [ 15 , 26 , 27 ], suggesting that swiprosin-1 played a role in inflammation processes of many diseases.…”