Genetics Genetics Research
CHROMOSOME 4 MTHFD2L 4q13.3 GENE VIEW MTHFD2L · 4q13.3 4q12 4q14 rs16850864 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs16850864 C / G · MTHFD2L · 4q13.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G C Cytosine — reference allele G Guanine — variant allele genetics.jdge.cc

rs16850864

Gene: MTHFD2L — Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 2 Like Chr 4:74295107 4q13.3 Intron Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.954233T 0.045767CC 0.919622CT/TC 0.069222TT 0.011156pop=528,702 ↬
African C 0.65388T 0.34612CC 0.431047CT/TC 0.445675TT 0.123278pop=44,436
African American C 0.65711T 0.34289CC 0.435503CT/TC 0.443209TT 0.121287pop=42,824
African Others C 0.5682T 0.4318CC 0.312655CT/TC 0.511166TT 0.176179pop=1,612
Asian C 0.94301T 0.05699CC 0.889154CT/TC 0.107721TT 0.003125pop=10,880
East Asian C 0.9473T 0.0527CC 0.897015CT/TC 0.100478TT 0.002506pop=8,778
European C 0.987941T 0.012059CC 0.976057CT/TC 0.023767TT 0.000176pop=432,192
Latin American 1 C 0.8876T 0.1124CC 0.784611CT/TC 0.206012TT 0.009377pop=7,252
Latin American 2 C 0.93162T 0.06838CC 0.86914CT/TC 0.124961TT 0.005899pop=12,884
Other C 0.94232T 0.05768CC 0.893471CT/TC 0.097702TT 0.008827pop=13,142
Other Asian C 0.9253T 0.0747CC 0.856327CT/TC 0.137964TT 0.005709pop=2,102
South Asian C 0.9329T 0.0671CC 0.872158CT/TC 0.121526TT 0.006316pop=7,916

Studies1

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1

Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients

Study ↗ PDF ↗
PID
The role that genetics play in response to infection or disease is becoming increasingly clear as we learn more about immunogenetics and host-pathogen interactions. Here we report a genome-wide analysis of the effects of host genetic variation on cytokine responses to vaccinia virus stimulation in smallpox vaccine recipients. Our data show that vaccinia stimulation of immune individuals results in secretion of inflammatory and Th1 cytokines. We identified multiple SNPs significantly associated with variations in cytokine secretion. These SNPs are found in genes with known immune function, as well as in genes encoding for proteins involved in signal transduction, cytoskeleton, membrane channels and ion transport, as well as others with no previously identified connection to immune responses. The large number of significant SNP associations implies that cytokine secretion in response to vaccinia virus is a complex process controlled by multiple genes and gene families. Follow-up studies to replicate these findings and then pursue mechanistic studies will provide a greater understanding of how genetic variation influences vaccine responses.

2012 · Richard B. Kennedy, Inna G. Ovsyannikova, V. Shane Pankratz, Iana H Haralambieva, Robert A. Vierkant, Gregory A Poland

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