Medical genetics of Jews

Short description: Autosomal recessive conditions that affect ethnic Jews more frequently

The medical genetics of Jews have been studied to identify and prevent some rare genetic diseases that, while still rare, are more common than average among people of Jewish descent. There are several autosomal recessive genetic disorders that are more common than average in ethnically Jewish populations, particularly Ashkenazi Jews, because of relatively recent population bottlenecks and because of consanguineous marriage (marriage of second cousins or closer).[1] These two phenomena reduce genetic diversity and raise the chance that two parents will carry a mutation in the same gene and pass on both mutations to a child.

The genetics of Ashkenazi Jews have been particularly well studied because the phenomenon affects them the most. This has resulted in the discovery of many genetic disorders associated with this ethnic group.[2] The medical genetics of Sephardic Jews and Mizrahi Jews are more complicated because they are genetically more diverse, and therefore no genetic disorders are more common in these groups as a whole; instead, they tend to have the genetic diseases common in their various countries of origin.[2][3]

Several organizations, such as Dor Yeshorim,[4] offer screening for Ashkenazi genetic diseases, and these programs have done much, particularly by reducing the incidence of Tay–Sachs disease.[5]

## Contents

* 1 History and purpose
* 2 Genetics of Jewish populations
* 3 Ashkenazi diseases
* 3.1 Tay–Sachs disease
* 3.2 Lipid transport diseases
* 3.3 Familial dysautonomia
* 3.4 Other Ashkenazi diseases and disorders
* 4 Sephardi and Mizrahi diseases
* 5 Genetic testing in Jewish populations
* 6 Criticism
* 7 See also
* 8 References
* 9 Further reading
* 10 External links

## History and purpose

Different ethnic groups tend to have different rates of hereditary diseases, with some being more common, and some less common. Hereditary diseases, particularly hemophilia, were recognized early in Jewish history, even being described in the Talmud.[6] Jewish people started to see massive population reductions as they were isolated so much that in the end, Jewish people started to develop characteristics that would be passed down for centuries. This also limited genetic diversity between Jewish populations and created higher chances of certain inherited diseases[7]. However, the scientific study of hereditary disease in Jewish populations was initially hindered by scientific racism, which was based on racial supremacism.[8][9] However, modern studies on the genetics of particular ethnic groups have the tightly defined purpose of avoiding the birth of children with genetic diseases, or identifying people at particular risk of developing a disease in the future.[8] Consequently, some members of the Jewish community have been very supportive of modern genetic testing programs; this high level of cooperation has raised concerns that conclusions may lead to stigmatization of the Jewish community.[6]

## Genetics of Jewish populations

Most populations contain hundreds of alleles that could potentially cause disease, and most people are heterozygotes for one or two recessive alleles that would be lethal in a homozygote.[10] Although the overall frequency of disease-causing alleles does not vary much between populations, the practice of consanguineous marriage (marriage between second cousins or closer relatives) has been common in some Jewish communities, which produces a small increase in the number of children with congenital defects.[1]

According to Daphna Birenbaum Carmeli at the University of Haifa, Jewish populations have been studied thoroughly because:[11]

* Jewish populations, and particularly the large Ashkenazi Jewish population, are ideal for such research studies, because they exhibit a high degree of endogamy, and at the same time are a large group.
* Jewish populations are overwhelmingly urban and are concentrated near biomedical centers where such research has been carried out.

The result is a form of ascertainment bias. This has sometimes created an impression that Jews are more susceptible to genetic disease than other populations. Carmeli writes, "Jews are over-represented in human genetic literature, particularly in mutation-related contexts."[11]

This set of advantages has led to Ashkenazi Jews in particular being used in many genetic studies, not just in the study of genetic diseases. For example, a series of publications on Ashkenazi centenarians established their longevity was strongly inherited and associated with lower rates of age-related diseases.[12] This "healthy aging" phenotype may be due to higher levels of telomerase in these individuals.[13]

## Ashkenazi diseases

Because of centuries of endogamy, today's ten million Ashkenazi Jews descend from a population of 350 who lived about 600–800 years ago.[14][15] That population derived from both Europe and the Middle East. Some evidence shows that the population bottleneck may have allowed deleterious alleles to increase in the population by genetic drift.[16]

This group has therefore been particularly intensively studied, and many mutations are common in Ashkenazim.[17] Of these diseases, many also occur in other Jewish groups and non-Jewish populations, although the specific mutation that causes the disease may vary among populations. For example, two mutations in the glucocerebrosidase gene each cause Gaucher's disease in Ashkenazim, which is that group's most common genetic disease, but only one of these mutations is found in non-Jewish groups.[5] A few diseases are unique to this group; familial dysautonomia, for example, is almost unknown in other peoples.[5]

Genetic disorders common in Ashkenazi Jews[2] Disease  | Subspecialty  | Mode of inheritance  | Gene  | Carrier frequency

|
|
|
|

Favism | Medical genetics  | X-linked  | G6PD |
Bloom syndrome | Medical genetics  | Autosomal recessive  | BLM | 1/100
Breast cancer and ovarian cancer | Oncology  | Autosomal dominant  | BRCA1 or BRCA2 | 1/100 and 1/75, respectively
Canavan disease | Endocrinology, neurology  | Autosomal recessive  | ASPA | 1/60
Congenital deafness  | Neurology, otorhinolaryngology, audiology  | Autosomal recessive  | GJB2 or GJB6 | 1/25
Cystic fibrosis | Pulmonology, hepatology  | Autosomal recessive  | CFTR | 1/25
Haemophilia C  | Hematology  | Autosomal recessive  | F11 | 1/12
Familial dysautonomia | Neurology  | Autosomal recessive  | IKBKAP | 1/30
Familial hypercholesterolemia  | Endocrinology, chemical pathology  | Autosomal dominant  | LDLR | 1/69
Familial hyperinsulinism  | Gastroenterology, endocrinology, pediatrics  | Autosomal recessive  | ABCC8 | 1/125–1/160
Fanconi anemia C | Hematology  | Autosomal recessive  | FACC | 1/100
Gaucher disease  | Endocrinology, neurology  | Autosomal recessive  | GBA | 1/7–1/18
Glycogen Storage Disease type 1a | Endocrinology, hematology, immunology  | Autosomal recessive  | G6PC | 1/71
Mucolipidosis IV  | Endocrinology  | Autosomal recessive  | MCOLN1 | 1/110
Niemann–Pick (type A) | Medical genetics  | Autosomal recessive  | SMPD1 | 1/90
Nonclassical 21 OHase deficiency | Endocrinology  | Autosomal recessive  | CPY21 | 1/6
Parkinson's disease | Neurology  | Autosomal dominant  | LRRK2 | 1/42[18]
Tay–Sachs  | Medical genetics  | Autosomal recessive  | HEXA | 1/25–1/30
Torsion dystonia | Neurology  | Autosomal dominant  | DYT1 | 1/4000
Usher syndrome | Ophthalmology  | Autosomal recessive  | PCDH15 | 1/72
Warsaw breakage syndrome | Medical genetics, pediatrics  | Autosomal recessive  | DDX11 | 1/50[19]

### Tay–Sachs disease

Tay–Sachs disease, which can present as a fatal illness of children that causes mental deterioration prior to death, was historically extremely common among Ashkenazi Jews,[20] with lower levels of the disease in some Pennsylvania Dutch, Italian, Irish Catholic, and French Canadian descent, especially those living in the Cajun community of Louisiana and the southeastern Quebec.[21] Since the 1970s, however, proactive genetic testing has been quite effective in eliminating Tay–Sachs from the Ashkenazi Jewish population.[22] The first mass Tay-Sachs screening program for Ashkenazi Jews occurred in May of 1971 at Congregation Beth El, a Conservative Shul in Bethesda, Maryland.[23]

### Lipid transport diseases

Micrograph of Gaucher disease, with cells that have the characteristic crumpled tissue paper-like cytoplasm. H&E stain.

Gaucher's disease, in which lipids accumulate in inappropriate locations, occurs most frequently among Ashkenazi Jews;[24] the mutation is carried by roughly one in every 15 Ashkenazi Jews, compared to one in 100 of the general American population.[25] Gaucher's disease can cause brain damage and seizures, but these effects are not usually present in the form manifested among Ashkenazi Jews; while those affected still bruise easily, and it can still potentially rupture the spleen, it generally has only a minor impact on life expectancy.

Ashkenazi Jews are also highly affected by other lysosomal storage diseases, particularly in the form of lipid storage disorders. Compared to other ethnic groups, they more frequently act as carriers of mucolipidosis[26] and Niemann–Pick disease,[27] the latter of which can prove fatal.

The occurrence of several lysosomal storage disorders in the same population suggests the alleles responsible might have conferred some selective advantage in the past.[28] This would be similar to the hemoglobin allele which is responsible for sickle-cell disease, but solely in people with two copies; those with just one copy of the allele have a sickle cell trait and gain partial immunity to malaria as a result. This effect is called heterozygote advantage.[29]

### Familial dysautonomia

Familial dysautonomia (Riley–Day syndrome), which causes vomiting, speech problems, an inability to cry, and false sensory perception, is almost exclusive to Ashkenazi Jews;[30] Ashkenazi Jews are almost 100 times more likely to carry the disease than anyone else.[31]

### Other Ashkenazi diseases and disorders

Diseases inherited in an autosomal recessive pattern often occur in endogamous populations. Among Ashkenazi Jews, a higher incidence of specific genetic disorders and hereditary diseases has been verified, including:

* Alport syndrome[32]
* Colorectal cancer due to hereditary nonpolyposis colorectal cancer[33]
* Congenital adrenal hyperplasia (nonclassical form)[34]
* Congenital insensitivity to pain with anhidrosis[35]
* Crohn's disease (the NOD2/CARD15 locus appears to be implicated)[36][37]
* Joubert syndrome type 2 is disproportionately frequent among people of Jewish descent; this has been attributed to the resistance to intermarriage of this population.[38]
* Kaposi's sarcoma[39]
* Maple syrup urine disease[40]
* Mucolipidosis IV[41]
* Myeloproliferative neoplasms including polycythemia vera and essential thrombocythemia[42]
* Nonsyndromic hearing loss and deafness, DFNB1 (connexin 26) [43]
* Parkinson's disease (G2019S/LRRK2 mutation;[44] The LRRK2 mutation on the main haplotype, shared by Ashkenazi Jews, North Africans, and Europeans, initially arose in the Near East at least 4000 years ago. Because of a founder effect, the ancestors of present-day Ashkenazi Jews may have kept the low-frequency G2019S mutation through the different diasporas, whereas Near Eastern daughter populations lost the mutation. The mutation might then have been "reintroduced by recurrent gene flow from Ashkenazi populations to other Jewish, European, and North African populations. The present-day frequency of the mutation in control populations (0.05% in Europeans, 0.5% in North-African Arabs and 1% in Ashkenazi Jews) may support this scenario".)[45][46]
* Pemphigus vulgaris[47]
* Schizophrenia (NDST3 gene variation)[48]
* Von Gierke disease[49]
* Zellweger syndrome[50]

## Sephardi and Mizrahi diseases

In contrast to the Ashkenazi population, Sephardic and Mizrahi Jews are much more divergent groups, with ancestors from Spain, Portugal, Morocco, Tunisia, Algeria, Italy, Libya, the Balkans, Iran, Kurdistan, Turkey, India, and Yemen, with specific genetic disorders found in each regional group, or even in specific subpopulations in these regions.[2]

Genetic disorders common in Sephardic Jews[2] Disease  | Subspecialty  | Mode of inheritance  | Gene or enzyme  | Carrier frequency  | Populations

|
|
|
|
|

Oculocutaneous albinism | Ophthalmology, dermatology  | Autosomal recessive  | TYR | 1/30  | Morocco
Ataxia–telangiectasia | Neurology, medical genetics  | Autosomal recessive  | ATM | 1/80  | Morocco, Tunisia
Creutzfeldt–Jakob disease | Neurology  | Autosomal dominant  | PRNP | 1/24,000  | Libya
Cerebrotendinous xanthomatosis | Medical genetics, endocrinology  | Autosomal recessive  | CYP27A1 | 1/70  | Morocco
Cystinuria | Endocrinology  | Autosomal recessive  | SLC7A9 | 1/25  | Libya
Familial Mediterranean fever | Rheumatology, immunology  | Autosomal recessive  | MEFV | 1/5–7  | All MENA (Middle Eastern and North African countries).
Glycogen storage disease III  | Endocrinology  | Autosomal recessive  | AGL | 1/35  | Morocco, North Africa
Limb girdle muscular dystrophy  | Neurology  | Autosomal recessive  | DYSF | 1/10  | Libya
Tay–Sachs disease | Neurology  | Autosomal recessive  | HEXA | 1/110  | Morocco
11-β-hydroxylase deficiency  | Endocrinology  | Autosomal recessive  | CYP11B1 | 1/30–1/128  | Morocco
Genetic disorders common in Mizrahi (Oriental) Jews[2] Disease  | Subspecialty  | Mode of inheritance  | Gene or enzyme  | Carrier frequency  | Populations

|
|
|
|
|

Beta-thalassemia  | Hematology  | Autosomal recessive  | HBB | 1/6  | Iran, Kurdistan, Syria
Factor VII deficiency | Hematology, medical genetics  | Autosomal recessive  | F7 | 1/40  | Iran
Familial Mediterranean fever | Rheumatology, immunology  | Autosomal recessive, but heterozygous carriers also can show clinical manifestations.  | MEFV | 1/5–1/7  | Iran, Kurdistan, Armenia, Azerbaijan, North African Jews, Ashkenazi[51]
Glucose-6-phosphate dehydrogenase deficiency | Medical genetics  | X-linked  | G6PD  | 1/4  | Iran, esp. Kurdistan, Syria, and all MENA countries. Female heterozygotes can also show clinical symptoms due to lyonization (X-inactivation), especially during pregnancy.[52]
Inclusion body myopathy  | Neurology  | Autosomal recessive  | GNE | 1/12  | Iran
Metachromatic leukodystrophy | Endocrinology, neurology  | Autosomal recessive  | ARSA | 1/50  | Yemen
Oculopharyngeal muscular dystrophy | Neurology  | Autosomal, recessive or dominant  | PABPN1 | 1/7  | Bukhara
Phenylketonuria | Medical genetics, pediatrics, dietetics  | Autosomal recessive  | PAH | 1/35  | Yemen

## Genetic testing in Jewish populations

One of the first genetic testing programs to identify heterozygote carriers of a genetic disorder was a program aimed at eliminating Tay–Sachs disease. This program began in 1970, and more than a million people have now been screened for the mutation.[53] Identifying carriers and counseling couples on reproductive options have had a large impact on the incidence of the disease, with a decrease from 40 to 50 per year worldwide to only four or five per year.[5] Screening programs now test for several genetic disorders in Jews, although these focus on the Ashkenazi Jews, since other Jewish groups cannot be given a single set of tests for a common set of disorders.[3] In the US, these screening programs have been widely accepted by the Ashkenazi community, and have greatly reduced the frequency of the disorders.[54]

Prenatal testing for several genetic diseases is offered as commercial panels for Ashkenazi couples by both CIGNA and Quest Diagnostics. The CIGNA panel is available for testing for parental/preconception screening or following chorionic villus sampling or amniocentesis and tests for Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia, Gaucher disease, mucolipidosis IV, Neimann-Pick disease type A, Tay-Sachs disease, and torsion dystonia. The Quest panel is for parental/preconception testing and tests for Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, Neimann-Pick disease types A and B, and Tay-Sachs disease.

The official recommendation of the American College of Obstetricians and Gynecologists is that Ashkenazi individuals be offered screening for Tay-Sachs disease, Canavan disease, cystic fibrosis, and familial dysautonomia as part of routine obstetrical care.[55]

In the orthodox community, an organization called Dor Yeshorim carries out anonymous genetic screening of couples before marriage to reduce the risk of children with genetic diseases being born.[56] The program educates young people on medical genetics and screens school-aged children for any disease genes. These results are then entered into an anonymous database, identified only by a unique ID number given to the person who was tested. If two people are considering getting married, they call the organization and tell them their ID numbers. The organization then tells them if they are genetically compatible. It is not divulged if one member is a carrier, so as to protect the carrier and his or her family from stigmatization.[56] However, this program has been criticized for exerting social pressure on people to be tested, and for screening for a broad range of recessive genes, including disorders such as Gaucher disease.[4]

## Criticism

Hebrew University Professor Raphael Falk published a criticism of studies identifying genetic disorders as being the result of hereditary endogamy.[57]

Dr. Sherry Brandt-Rauf of the University of Illinois and Sheila Rothman of Columbia University co-authored a critique of the methodologies as well as condemning those who worked on the eugenic studies which attributed genetic disorders to religious demographics in paper which explored the ramifications of such concepts entering the workplace stating, "such linkages 'exaggerate genetic differences among ethnic groups' and may result in 'health disparities' in groups not targeted for screening.[58] There has been a tendency to consider Tay-Sachs an exclusively "Jewish" genetic disorder and, as a result of this bias, non-Jewish children with Tay-Sachs may not initially have their disease properly diagnosed and non-Jewish heterozygous carriers may not be aware that they still could carry one of its genetic variants. In a peer-reviewed medical study, a team of researchers from 23andMe, one of whom (Noura Abul-Husn) is an Associate Professor of Medicine and Genetics at the Icahn School of Medicine at Mount Sinai, criticized guidelines and policies that restrict Tay-Sachs genetic screening to Jews, French Canadians, and Cajuns.[59] This team found that 59.4 percent of their data pool of 22,681 participants who carry one Tay-Sachs-causing variant on one side of their pair of relevant chromosomes "did not self-report [a] qualifying ethnicity" (one of the three aforementioned populations).[59] They also found that 51.3 percent of participants who carry one Ashkenazi-associated pathogenic variant for 15 different diseases had less than 20 percent Ashkenazi autosomal admixture as calculated by 23andMe. They concluded that restrictive testing "leads to the under-detection of heterozygotes and associated reproductive risk" of having a child with a serious disease.[59]

## See also

* Ethnicity and health
* Genetic studies on Jews
* Jewish genealogy
* Jewish medical ethics
* Finnish heritage disease

## References

1. ↑ 1.0 1.1 Keller, Evelyn Fox, ed (December 2008). ""It's ok, we're not cousins by blood": the cousin marriage controversy in historical perspective". PLOS Biology 6 (12): 2627–30. doi:10.1371/journal.pbio.0060320. PMID 19108607.
2. ↑ 2.0 2.1 2.2 2.3 2.4 2.5 "Genetic testing in Israel: an overview". Annual Review of Genomics and Human Genetics 10: 175–92. 2009. doi:10.1146/annurev.genom.030308.111406. PMID 19453249.
3. ↑ 3.0 3.1 Bloch, Talia (August 21, 2009). "Sephardi Jews lack screening programs for their genetic diseases". Haaretz. https://www.haaretz.com/hasen/spages/1109222.html.
4. ↑ 4.0 4.1 Kolata, Gina (December 7, 1993). "Nightmare or the Dream Of a New Era in Genetics?". New York Times. https://www.nytimes.com/1993/12/07/health/nightmare-or-the-dream-of-a-new-era-in-genetics.html.
5. ↑ 5.0 5.1 5.2 5.3 "A genetic profile of contemporary Jewish populations". Nature Reviews. Genetics 2 (11): 891–8. November 2001. doi:10.1038/35098506. PMID 11715044.
6. ↑ 6.0 6.1 "Screening Jews and genes: a consideration of the ethics of genetic screening within the Jewish community: challenges and responses". Genetic Testing 3 (2): 207–13. 1999. doi:10.1089/gte.1999.3.207. PMID 10464669.
7. ↑ "Understanding Ashkenazi Jewish Ancestry & Genetics for Your Health" (in en). https://blog.pub.us-west-2.prd.23andme.us/articles/ashkenazi-ancestry-and-health.
8. ↑ 8.0 8.1 Abel 2001, p. 7
9. ↑ "In the name of public health--Nazi racial hygiene". The New England Journal of Medicine 351 (5): 417–20. July 2004. doi:10.1056/NEJMp048136. PMID 15282346.
10. ↑ "Science and society: genetic counselling and customary consanguineous marriage". Nature Reviews. Genetics 3 (3): 225–9. March 2002. doi:10.1038/nrg754. PMID 11972160.
11. ↑ 11.0 11.1 "Prevalence of Jews as subjects in genetic research: figures, explanation, and potential implications". American Journal of Medical Genetics. Part A 130A (1): 76–83. September 2004. doi:10.1002/ajmg.a.20291. PMID 15368499.
12. ↑ "Clinical phenotype of families with longevity". Journal of the American Geriatrics Society 52 (2): 274–7. February 2004. doi:10.1111/j.1532-5415.2004.52068.x. PMID 14728640.
13. ↑ "Evolution in health and medicine Sackler colloquium: Genetic variation in human telomerase is associated with telomere length in Ashkenazi centenarians". Proceedings of the National Academy of Sciences of the United States of America 107 Suppl 1 (suppl_1): 1710–7. January 2010. doi:10.1073/pnas.0906191106. PMID 19915151. Bibcode: 2010PNAS..107.1710A.
14. ↑ Carmi, Shai; Hui, Ken Y.; Kochav, Ethan; Liu, Xinmin; Xue, James; Grady, Fillan et al. (9 September 2014). "Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins". Nature Communications 5 (1): 4835. doi:10.1038/ncomms5835. PMID 25203624. Bibcode: 2014NatCo...5.4835C.
15. ↑ Schuster, Ruth (September 9, 2014). "Ashkenazi Jews Descend From 350 People, Scientists Say". https://forward.com/news/205371/ashkenazi-jews-descend-from-350-people-scientists/.
16. ↑ "MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population". European Journal of Human Genetics 12 (5): 355–64. May 2004. doi:10.1038/sj.ejhg.5201156. PMID 14722586.
17. ↑ Wade, Nicholas (March 4, 2003). "Diseases Common in Ashkenazim May Be Random". New York Times. https://www.nytimes.com/2003/03/04/health/genetics/04GENE.html.
18. ↑ "The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect?". Neurology 69 (16): 1595–602. October 2007. doi:10.1212/01.wnl.0000277637.33328.d8. PMID 17938369.
19. ↑ "Warsaw Breakage Syndrome" (in en). https://www.gov.il/en/departments/general/disease-genetic-warsaw-breakage-syndrome.
20. ↑ "Tay–Sachs Disease Information Page". National Institute of Neurological Disorders and Stroke. February 14, 2007. http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm.
21. ↑ "Tay-Sachs disease screening and counseling families at risk for metabolic disease". Obstetrics and Gynecology Clinics of North America 29 (2): 287–96. June 2002. doi:10.1016/S0889-8545(01)00002-X. PMID 12108829.
22. ↑ Buckles, Julie (August 20, 2001). "The Success Story of Gene Tests". Genome News Network, J. Craig Venter Institute. http://www.genomenewsnetwork.org/articles/08_01/Tay_Sachs_gene_tests.shtml.
23. ↑ Stoll, Ira (2017-08-23). "How Jewish activism has virtually wiped out Tay-Sachs" (in en-US). The Times of Israel. ISSN 0040-7909. http://www.timesofisrael.com/how-jewish-activism-has-wiped-out-tay-sachs/.
24. ↑ "Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations". American Journal of Human Genetics 66 (6): 1821–32. June 2000. doi:10.1086/302946. PMID 10777718. '
25. ↑ "National Gaucher Foundation". http://www.gaucherdisease.org/prevalence.php.
26. ↑ "Diseases: Mucolipidosis". Mount Sinai – Center for Jewish Genetic Diseases – Department of Human Genetics. http://www.mssm.edu/jewish_genetics/diseases/mucolipidosis.shtml.
27. ↑ "Ashkenazi Disorders: Mendelian – Niemann–Pick disease". The Chicago Center for Jewish Genetic Disorders. http://www.jewishgeneticscenter.org/what/ashkenazi/niemann.asp.
28. ↑ "Linkage to Gaucher mutations in the Ashkenazi population: effect of drift on decay of linkage disequilibrium and evidence for heterozygote selection". Blood Cells, Molecules & Diseases 26 (4): 348–59. August 2000. doi:10.1006/bcmd.2000.0314. PMID 11042036.
29. ↑ "Genetic diversity and genetic burden in humans". Infection, Genetics and Evolution 6 (2): 154–62. March 2006. doi:10.1016/j.meegid.2005.04.002. PMID 16246638. Bibcode: 2006InfGE...6..154H.
30. ↑ "Ashkenazi Disorders: Mendelian – Familial dysautonomia". The Chicago Center for Jewish Genetic Disorders. http://www.jewishgeneticscenter.org/what/ashkenazi/familial.asp.
31. ↑ about one in 30 Ashkenazi Jews carry the disease, compared to 1 in 3000 of the general population
32. ↑ Webb, B. D.; Brandt, T.; Liu, L.; Jalas, C.; Liao, J.; Fedick, A.; Linderman, M. D.; Diaz, G. A. et al. (2014). "A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population". Clinical Genetics 86 (2): 155–160. doi:10.1111/cge.12247. PMID 23927549.
33. ↑ "Ashkenazi Jews and Colorectal Cancer". The Chicago Center for Jewish Genetic Disorders. http://www.jewishgeneticscenter.org/cancer/colorectal.asp.
34. ↑ "Ashkenazi Disorders: Mendelian – Non-Classical Adrenal Hyperplasia". Jewish Genetic Disorders Organization. http://www.jewishgeneticscenter.org/what/ashkenazi/adrenal.asp.
35. ↑ "Congenital insensitivity to pain with anhydrosis in a Malaysian family: a genetic analysis". Journal of Orthopaedic Surgery 15 (3): 357–60. December 2007. doi:10.1177/230949900701500323. PMID 18162686. http://www.josonline.org/pdf/v15i3p357.pdf. "Type III is familial dysautonomia or Riley–Day syndrome. It is multisystemic and affects mainly Ashkenazi Jews.".
36. ↑ "An SNP linkage scan identifies significant Crohn's disease loci on chromosomes 13q13.3 and, in Jewish families, on 1p35.2 and 3q29". Genes and Immunity 9 (2): 161–7. March 2008. doi:10.1038/sj.gene.6364460. PMID 18246054.
37. ↑ "Large multicenter study suggests new genetic markers for Crohn's disease". https://www.eurekalert.org/news-releases/813211.
38. ↑ Gutkind, Lee; Kennedy, Pagan (10 October 2013). An Immense New Power to Heal: The Promise of Personalized Medicine. Underland Press. pp. 36–. ISBN 978-1-937163-07-5. https://books.google.com/books?id=MOs7LjBQW40C&pg=PT36.
39. ↑ "Epidemiological study of classic Kaposi's sarcoma: a retrospective review of 125 cases from Northern Israel". Journal of the European Academy of Dermatology and Venereology 14 (2): 91–5. March 2000. doi:10.1046/j.1468-3083.2000.00022.x. PMID 10972092.
40. ↑ "Ashkenazi Jewish Diseases". Tufts Medical Center. http://www.tuftsmedicalcenter.org/OurServices/SpecialServicesandCenters/JewishGeneticDiseasesScreening/AshkenaziJewishDiseases.
41. ↑ "Ashkenazi Disorders: Mendelian – Mucolipidosis IV". The Chicago Center for Jewish Genetic Disorders. http://www.jewishgeneticscenter.org/what/ashkenazi/mucoli.asp.
42. ↑ "Myeloproliferative Neoplasms". Cancer Network. https://www.cancernetwork.com/cancer-management/myeloproliferative-neoplasms.
43. ↑ "Ashkenazi Disorders: Mendelian – Nonsyndromic Hearing Loss and Deafness, DFNB1 (Connexin 26)". The Chicago Center for Jewish Genetic Disorders. http://www.jewishgeneticscenter.org/what/ashkenazi/hearingloss.asp.
44. ↑ "Parkinson's disease: the LRRK2-G2019S mutation: opening a novel era in Parkinson's disease genetics". European Journal of Human Genetics 14 (10): 1061–2. October 2006. doi:10.1038/sj.ejhg.5201695. PMID 16835587.
45. ↑ "Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans". Human Molecular Genetics 19 (10): 1998–2004. May 2010. doi:10.1093/hmg/ddq081. PMID 20197411.
46. ↑ "Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology". Neuron 44 (4): 601–7. November 2004. doi:10.1016/j.neuron.2004.11.005. PMID 15541309. "We have previously linked families with autosomal-dominant, late-onset parkinsonism to chromosome 12p11.2-q13.1 (PARK8)...".
47. ↑ "The HLA system. Second of two parts". The New England Journal of Medicine 343 (11): 782–6. September 2000. doi:10.1056/NEJM200009143431106. PMID 10984567.
48. ↑ Efrati, Ido (26 November 2013). "Scientists Discover Gene That Predisposes Ashkenazi Jews to Schizophrenia". Haaretz Newspaper. https://www.haaretz.com/israel-news/.premium-1.560128.
49. ↑ "Glycogen Storage Disease Type Ia Mutation Analysis (Ashkenazi Jewish)". http://www.questdiagnostics.com/hcp/testmenu/jsp/showTestMenu.jsp?fn=16069X.html&labCode=QDV.
50. ↑ "A new autosomal recessive syndrome with Zellweger-like manifestations". American Journal of Medical Genetics. Part A 119A (3): 352–5. June 2003. doi:10.1002/ajmg.a.20124. PMID 12784304. "A son and daughter of consanguineous Ashkenazi Jewish parents presented with phenotypic features that are typically seen in Zellweger syndrome...".
51. ↑ "Clinical disease among patients heterozygous for familial Mediterranean fever". Arthritis and Rheumatism 60 (6): 1862–6. June 2009. doi:10.1002/art.24570. PMID 19479871.
52. ↑ "Women with G6PD Deficiency". g6pd-deficiency.org. http://g6pddeficiency.org/wp/g6pd-deficiency-home/women-with-g6pd-deficiency/.
53. ↑ "Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model". European Journal of Pediatrics 159 (Suppl 3): S192-5. December 2000. doi:10.1007/PL00014401. PMID 11216898.
54. ↑ "Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY". Archives of Internal Medicine 158 (7): 777–81. April 1998. doi:10.1001/archinte.158.7.777. PMID 9554684.
55. ↑ ACOG committee on genetics (October 2009). "ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent". Obstetrics and Gynecology 114 (4): 950–3. doi:10.1097/AOG.0b013e3181bd12f4. PMID 19888064.
56. ↑ 56.0 56.1 "23. The Dor Yeshorim story: Community-based carrier screening for Tay-Sachs disease". Tay-Sachs Disease. Advances in Genetics. 44. 2001. pp. 297–310. doi:10.1016/S0065-2660(01)44087-9. ISBN 978-0-12-017644-1.
57. ↑ Falk, Raphael (23 May 2014). "Genetic markers cannot determine Jewish descent". Frontiers in Genetics 5: 462. doi:10.3389/fgene.2014.00462. PMID 25653666.
58. ↑ Brandt-Rauf, Paul W.; Brandt-Rauf, Sherry I. (23 May 2004). "Genetic testing in the workplace: ethical, legal, and social implications". Annual Review of Public Health 25: 139–153. doi:10.1146/annurev.publhealth.25.101802.123012. PMID 15015916.
59. ↑ 59.0 59.1 59.2 Llorin, Hannah; Tennen, Ruth; Laskey, Sarah; Zhan, Jianan; Detweiler, Stacey; Abul-Husn, Noura S. (16 July 2024). "Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry". Genetics in Medicine Open 2. doi:10.1016/j.gimo.2024.101869. PMID 39669632.

## Further reading

* Abel, Ernest L. (2001). Jewish genetic disorders: a layman's guide. Jefferson, N.C: McFarland. ISBN 0-7864-0941-X. https://archive.org/details/jewishgeneticdis00erne.
* Goodman, Richard M. (1979). Genetic disorders among the Jewish people. Baltimore: Johns Hopkins University Press. ISBN 0-8018-2120-7. https://archive.org/details/geneticdisorders0000good.
* Goldstein, David I. (2009). Jacob's Legacy: A Genetic View of Jewish History. New Haven, Conn: Yale University Press. ISBN 978-0-300-15128-2.
* "Implications for health and disease in the genetic signature of the Ashkenazi Jewish population". Genome Biology 13 (1). January 2012. doi:10.1186/gb-2012-13-1-r2. PMID 22277159.

## External links

* Chicago Center for Jewish Genetic Disorders
* Ashkenazi Jews – The Hebrew University of Jerusalem
* Jewish Diseases Genetic Testing – The Center for Medical Genetics
* Ashkenazi Jewish Genetic Diseases – Victor Center for Jewish Genetic Diseases
* Ashkenazi Jewish Diseases – Tufts Medical Center
* Jewish Genetic Disease Consortium
* Center for Jewish Genetic Diseases – Mount Sinai Medical Center
* Mendelian disorders among Jews – Israeli National Genetic Database
* Studies Show Jews’ Genetic Similarity by The New York Times

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