Low serum vitamin D has been discovered to be associated with higher risk of active tuberculosis.
Chromosomal translocations involving CBF are well documented and have been discovered to be associated with several types of leukemia.
And the aberrant villous trophoblast apoptosis has been discovered to be associated with the pathogenesis of PE [ 13].
However, a novel variant P268S was observed, which has also been discovered to be associated with CD in Chinese population [ 43].
Many types of genetic variation such as single-nucleotide polymorphisms (SNPs) and copy number variations (CNVs) [ 2– 7] have been discovered to be associated with lung cancer.
Following this direction, a new protein domain called PAAD has been discovered to be associated with apoptosis, cancer, and autoimmune diseases [ 19], and a novel domain called G8 has been reported to be linked to polycystic kidney disease and non-syndromic hearing loss [ 20].
Furthermore, recently, another four genes, TINF2, DKC1, RTEL1, and PARN, involved in telomere maintenance have been discovered to harbor mutations associated with IIP [ 63– 63].
One component within the network, HMMR gene, which encodes a centrosome subunit, was discovered to be associated with the breast cancer-associated gene BRCA1 and with a higher risk of breast cancer.
A genetic variant in the high-density lipoprotein (HDL) cholesterol pathway, hepatic lipase (LIPC), was discovered to be associated with advanced age-related macular degeneration (AMD) in a genome-wide association study.
Several genes (e.g., APOC1, FTO, GRIN2B, MAGI2, and TOMM40) were discovered to be associated with multiple phenotypes by multiple studies using different approaches, and these genes warrant further investigation and replication on other data sets.
