Редактирование: SYNE2

Nesprin-2 (KASH domain-containing protein 2) (KASH2) (Nuclear envelope spectrin repeat protein 2) (Nucleus and actin connecting element protein) (Protein NUANCE) (Synaptic nuclear envelope protein 2) (Syne-2) [KIAA1011] [NUA]

==Publications==

{{medline-entry
|title=Gene discovery for high-density lipoprotein cholesterol level change over time in prospective family studies.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/32109663
|abstract=Several genes are known to contribute to the levels and metabolism of HDL-C, however, their protective effects in cardiovascular disease (CVD), healthy aging, and longevity are complex and poorly understood. It is also unclear if these genes predict longitudinal HDL-C change. We aimed to identify loci influencing HDL-C change. We performed a genome-wide association study (GWAS) with harmonized HDL-C and imputed genotype in three family-based studies recruited for exceptional survival (Long Life Family Study), from community-based (Framingham Heart Study) and enriched for CVD (Family Heart Study). In 7738 individuals with at least 2 visits, we employed a growth curve model to estimate the random linear trajectory parameter of age-sex-adjusted HDL-C for each person. GWAS was performed using a linear regression model on HDL-C change accounting for kinship correlations, population structure, and differences among studies. We identified a novel association for HDL-C with [[GRID1]] (p = 5.43 × 10 ), which encodes a glutamate receptor channel subunit involved in synaptic plasticity. Seven suggestive novel loci (p < 1.0 × 10 ; [[MBOAT2]], LINC01876-[[NR4A2]], [[NTNG2]], [[CYSLTR2]], [[SYNE2]], [[CTXND1]]-LINC01314, and CYYR1) and a known lipid gene (ABCA10) showed associations with HDL-C change. Two additional sex-specific suggestive loci were identified in women (DCLK2 and KCNJ2). Several of these genetic variants are associated with lipid-related conditions influencing cardiovascular and metabolic health, have predictive regulatory function, and are involved in lipid-related pathways. Modeling longitudinal HDL-C in prospective studies, with differences in healthy aging, longevity and CVD risk, contributed to gene discovery and provided insights into mechanisms of HDL-C regulation.

|keywords=* GWAS
* HDL-C metabolism
* Healthy aging
* Longevity
* Longitudinal HDL-C change
|full-text-url=https://sci-hub.do/10.1016/j.atherosclerosis.2020.02.005
}}