DNA Traits · Reproductive biology

SHBG association

The blood level of SHBG, a protein that carries sex hormones.

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Evidence · Replicated

What the research found

In the cited research, the T allele at rs727428 was associated with lower concentrations of sex hormone-binding globulin (SHBG) in the studied cohorts.

CC: Higher average
CT: Middle
TT: Lower average

Modest effect

What the study found

In the study, each copy went with SHBG in blood about 12% lower on average.

Postmenopausal women of European ancestry not using hormone therapy (Nurses' Health Study and Sisters in Breast Cancer Screening) · 1,598 people · Discussion paragraph on rs727428 (e to the beta = 0.88, a 12% reduction per T allele); Table 2 (beta, P); Methods, statistical analysis (N 1598 for the SHBG analysis)

Evidence: Genome-wide association in women and independent association in male cohorts
Who was studied: Primarily European-ancestry postmenopausal women; independent validation in Japanese men

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	CCHigher average	CTMiddle	TTLower average
All regions2,504 people	28%	47%	25%
Africa661 people	24%	49%	27%
The Americas347 people	43%	45%	12%
East Asia504 people	32%	47%	21%
Europe503 people	35%	45%	20%
South Asia489 people	13%	47%	40%

Among the 2,504 people of the 1000 Genomes Project, in five world regions. These percentages describe groups of people, never anyone’s chance of having a trait.

Ancient genomes

Through time

How often the studied letter was read in ancient people, era by era, in the region chosen.

Region

Through time: Europe
Before farmingbefore 6500 BC	44%27 of 62 copies read
First farmers6500 to 3000 BC	38%368 of 959 copies read
Bronze Age3000 to 1200 BC	43%387 of 898 copies read
Iron Age and Antiquity1200 BC to AD 600	41%445 of 1,093 copies read
Middle AgesAD 600 to 1500	39%223 of 566 copies read
Today1000 Genomes	43%430 of 1,006 copies

Neanderthal and Denisovan genomes

Altai Neanderthal: 2 copies
Vindija Neanderthal: 2 copies
Chagyrskaya Neanderthal: 2 copies
Denisovan: 2 copies

Neanderthals and Denisovans carried this letter too: it is the older of the two.

For most ancient people only one of their two copies can be read, so these counts are copies read, not people. Close relatives, repeated samples and samples the archive marks as unreliable are left out. Damage in old DNA can fake this letter, so it is counted only from samples treated to remove that damage and from high-quality genomes. Ancient genomes from the Allen Ancient DNA Resource (AADR v66): 15,136 people.

rs727428

The marker

Gene or region: SHBG region
Marker: rs727428
Location: Chromosome 17 · GRCh37 7,537,792 · GRCh38 7,634,474
Letters studied: C and T, with T as the studied allele

A DNA Traits report reads this marker in your raw DNA file and shows which of the three genotypes is yours, with how common it is. It counts the copies of the studied allele; it does not measure the trait itself.

Marker: SHBG region · rs727428
Location: Chromosome 17 · GRCh37 7,537,792 · GRCh38 7,634,474
Studied allele: T
Published statistic: beta -0.126 per T allele on log SHBG, joint P 2.09e-16, heterogeneity P 0.59, N 1,598 (Table 2); Japanese men: beta STD +0.21 per reverse-strand G (= forward C) allele (SE 0.033), P 3.4e-10, N 1,687 (PMC6276698, Table II) (Discussion paragraph on rs727428 (e to the beta = 0.88, a 12% reduction per T allele); Table 2 (beta, P); Methods, statistical analysis (N 1598 for the SHBG analysis))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 702 / 1179 / 623 · Africa 156 / 327 / 178 · The Americas 149 / 156 / 42 · East Asia 159 / 237 / 108 · Europe 174 / 228 / 101 · South Asia 64 / 231 / 194

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Limits

What it cannot tell you

SHBG is a protein that binds sex hormones. The female source studied postmenopausal women, and associations were weaker in hormone-therapy users; an independent Japanese male study also supported the SHBG association. This marker does not estimate your current SHBG, total or free testosterone, or DHT levels, and it does not predict fertility or guide treatment. Only the studied C/T allele pair is interpreted. The same marker was also studied for DHT in older men; these are two studied outcomes of one marker, not independent genetic findings.

Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women (Prescott et al., 2012)

The same topic

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